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TABLE OF CONTENTS Volume 2, Number 1, Jan-Mar 1998 Previous
Issue / Next Issue
Genes PICALM (phosphatidylinositol binding clathrin assembly
protein) (11q14-21) . Jean-Loup Huret. Atlas Genet Cytogenet Oncol
Haematol 1998; 2 (1): 1-5. [Full Text] [PDF] URL :
http://AtlasGeneticsOncology.org/Genes/CALM.html
NUP214 (nucleoporin 214kDa) (9q34.3). Jean-Loup Huret. Atlas
Genet Cytogenet Oncol Haematol 1998; 2 (1): 6-10. [Full Text] [PDF]
URL : http://AtlasGeneticsOncology.org/Genes/CAN.html
DDX10 (11q22). Jean-Loup Huret. Atlas Genet Cytogenet Oncol
Haematol 1998; 2 (1):11-14. [Full Text] [PDF] URL :
http://AtlasGeneticsOncology.org/Genes/DDX10.html
DEK (6p23). Jean-Loup Huret. Atlas Genet Cytogenet Oncol
Haematol 1998; 2 (1): 15-19. [Full Text] [PDF] URL :
http://AtlasGeneticsOncology.org/Genes/DEK_23.html
HOXA9 (7p15). Jean-loup Huret. Atlas Genet Cytogenet Oncol
Haematol 1998; 2 (1): 20-24. [Full Text] [PDF] URL :
http://AtlasGeneticsOncology.org/Genes/HOXA9.html
NUP98 (nucleoporin 98 kDa) (11p15). Jean-Loup Huret. Atlas Genet
Cytogenet Oncol Haematol 1998; 2 (1): 25-33. [Full Text] [PDF]
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) I
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URL : http://AtlasGeneticsOncology.org/Genes/NUP98.html
TCTA (T-cell leukemia translocation-associated gene) (3p21).
Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1):
34-37. [Full Text] [PDF] URL :
http://AtlasGeneticsOncology.org/Genes/TCTA.html
BLM (Bloom) (15q26.1). Jean-Loup Huret. Atlas Genet Cytogenet
Oncol Haematol 1998; 2 (1): 38-48. [Full Text] [PDF] URL :
http://AtlasGeneticsOncology.org/Genes/BLM109.html
TRIP11 (thyroid hormone receptor interactor 11) (14q32).
Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1):
49-52. [Full Text] [PDF] URL :
http://AtlasGeneticsOncology.org/Genes/CEV14.html
FACC (Fanconi anaemia complementation group C) (9q22.3).
Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1):
53-58. [Full Text] [PDF] URL :
http://AtlasGeneticsOncology.org/Genes/FACC101.html
FGFR3 (Fibroblast Growth Factor Receptor 3) (4p16.3). Jacky
Bonaventure. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1):
59-64. [Full Text] [PDF] URL :
http://AtlasGeneticsOncology.org/Genes/FGFR99.html
JAK2 (janus kinase 2) (9p24). Jean-Loup Huret. Atlas Genet
Cytogenet Oncol Haematol 1998; 2 (1): 65-76. [Full Text] [PDF] URL
: http://AtlasGeneticsOncology.org/Genes/JAK98.html
RHOH (Ras homolog gene family, member H) (4p13). Sylvie
Galiègue-Zouitina. Atlas Genet Cytogenet Oncol Haematol 1998; 2
(1): 77-81. [Full Text] [PDF] URL :
http://AtlasGeneticsOncology.org/Genes/RHOH93.html
Leukaemias Agnogenic myeloid metaplasia; Idiopathic
myelofibrosis - updated. Jean-Loup Huret. Atlas Genet Cytogenet
Oncol Haematol 1998; 2 (1): 82-84. [Full Text] [PDF] URL :
http://AtlasGeneticsOncology.org/Anomalies/MM.html
Multiple myeloma. Jean-Loup Huret. Atlas Genet Cytogenet Oncol
Haematol 1998; 2 (1): 85-89. [Full Text] [PDF]
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) II
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URL :
http://AtlasGeneticsOncology.org/Anomalies/MMULID2038.html
1p32 rearrangements; t(1;14)(p32;q11); t(1;7)(p32;q34).
Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1):
90-92. [Full Text] [PDF] URL :
http://AtlasGeneticsOncology.org/Anomalies/t0114.html
t(1;22)(p13;q13) - updated. Jean-Loup Huret. Atlas Genet
Cytogenet Oncol Haematol 1998; 2 (1): 93-96. [Full Text] [PDF] URL
: http://AtlasGeneticsOncology.org/Anomalies/t0122.html
t(3;13)(q27;q14). Jean-Loup Huret, Jean-Luc Laï. Atlas Genet
Cytogenet Oncol Haematol 1998; 2 (1): 97-98. [Full Text] [PDF] URL
: http://AtlasGeneticsOncology.org/Anomalies/t0313.html
t(3;21)(q26;q22) - updated. Jean-Loup Huret, François Desangles.
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1): 99-101. [Full
Text] [PDF] URL :
http://AtlasGeneticsOncology.org/Anomalies/t0321.html
t(4;12)(q11-q21;p13) . Jean-Loup Huret, Marina
Lafage-Pochitaloff. Atlas Genet Cytogenet Oncol Haematol 1998; 2
(1): 102-104. [Full Text] [PDF] URL :
http://AtlasGeneticsOncology.org/Anomalies/t0412.html
t(5;12)(q33;p13). Jean-Loup Huret. Atlas Genet Cytogenet Oncol
Haematol 1998; 2 (1): 105-107. [Full Text] [PDF] URL :
http://AtlasGeneticsOncology.org/Anomalies/t0512.html
t(6;9)(p23;q34). Jean-Loup Huret. Atlas Genet Cytogenet Oncol
Haematol 1998; 2 (1): 108-111. [Full Text] [PDF] URL :
http://AtlasGeneticsOncology.org/Anomalies/t0609.html
t(10;11)(p13;q21) . Jean-Loup Huret. Atlas Genet Cytogenet Oncol
Haematol 1998; 2 (1): 112-114. [Full Text] [PDF] URL :
http://AtlasGeneticsOncology.org/Anomalies/t1011bis.html
t(11;14)(q13;q32) in multiple myeloma. Jean-Loup Huret and
Jean-Luc Laï. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1):
115-116. [Full Text] [PDF] URL :
http://AtlasGeneticsOncology.org/Anomalies/t1114MM.html
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) III
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Solid TumoursCancer Prone DiseasesDeep InsightsCase
ReportsEducational Items © Atlas of Genetics and Cytogenetics in
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Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) IV
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Atlas of Genetics and Cytogenetics in Oncology and
Haematology
PICALM (phosphatidylinositol binding clathrin assembly
protein)
IdentityHugo PICALM Location 11q14-21
CALM (11q14-21) - Courtesy Mariano Rocchi, Resources for
Molecular Cytogenetics.
Laboratories willing to validate the probes are welcome :
contact [email protected]
DNA/RNATranscription major mRNA: 4 kb; other: 3 and 9 kb
Protein
Description 652 amino acids Expression wide Function role in the
integration of signals from different pathways (clathrin,
phosphoinositols, receptor-mediated endocytosis) Homology with
ap-3, a clathrin assembly protein (mouse)
Implicated inEntity t(10;11)(p13;q14-21) -->CALM-AF10 and/or
AF10-CALM Disease yet to be well delineated; T-cell ALL Prognosis
uncertain (median survival 2 yrs?) Cytogenetics may well be
confused with the t(10;11)(p12;q23), where MLL on 11q23 is
involved, instead of CALM Hybrid/Mutated Gene 5' CALM - 3' AF10
and 5' AF10 - 3' CALM
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 1 -
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Abnormal Protein both CALM-AF10 and the reciprocal AF10-CALM are
expressed
Breakpoints
External links Nomenclature
Hugo PICALM GDB PICALM Entrez_Gene PICALM 8301
phosphatidylinositol binding clathrin assembly protein
Cards Atlas CALM GeneCards PICALM Ensembl PICALM CancerGene CALM
Genatlas PICALM GeneLynx PICALM eGenome PICALM euGene 8301
Genomic and cartography GoldenPath PICALM -
chr11:85346134-85457756 - 11q14.2 (hg17-May_2004) Ensembl PICALM -
11q14.2 [CytoView] NCBI Genes Cyto Gene Seq [Map View - NCBI] OMIM
Disease map [OMIM] HomoloGene PICALM
Gene and transcription
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 2 -
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Genbank AF060939 [ SRS ] AF060939 [ ENTREZ ] Genbank AF060940 [
SRS ] AF060940 [ ENTREZ ] Genbank AK128786 [ SRS ] AK128786 [
ENTREZ ] Genbank AY326466 [ SRS ] AY326466 [ ENTREZ ] Genbank
BC048259 [ SRS ] BC048259 [ ENTREZ ] RefSeq NM_001008660 [ SRS ]
NM_001008660 [ ENTREZ ] RefSeq NM_007166 [ SRS ] NM_007166 [ ENTREZ
] RefSeq NT_086784 [ SRS ] NT_086784 [ ENTREZ ] AceView PICALM
AceView - NCBI TRASER PICALM Traser - Stanford Unigene Hs.163893 [
SRS ] Hs.163893 [ NCBI ] HS163893 [ spliceNest ]
Protein : pattern, domain, 3D structure SwissProt Q13492 [ SRS]
Q13492 [ EXPASY ] Q13492 [ INTERPRO ] Prosite PS50942 ENTH [ SRS ]
PS50942 ENTH [ Expasy ] Interpro IPR008943 PI_bind_N [ SRS ]
IPR008943 PI_bind_N [ EBI ] CluSTr Q13492 Pfam PF01417 ENTH [ SRS ]
PF01417 ENTH [ Sanger ] pfam01417 [ NCBI-CDD ] Blocks Q13492
Polymorphism : SNP, mutations, diseases OMIM 603025 [ map ]
GENECLINICS 603025 SNP PICALM [dbSNP-NCBI] SNP NM_001008660
[SNP-NCI] SNP NM_007166 [SNP-NCI] SNP PICALM [GeneSNPs - Utah]
PICALM [SNP - CSHL] PICALM] [HGBASE - SRS]
General knowledge Family Browser PICALM [UCSC Family Browser]
SOURCE NM_001008660 SOURCE NM_007166 SMD Hs.163893 SAGE Hs.163893
Amigo component|Golgi apparatus Amigo function|clathrin binding
Amigo component|coated pit Amigo function|phosphatidylinositol
binding
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 3 -
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Amigo function|phospholipid binding Amigo process|protein
complex assembly Amigo process|receptor mediated endocytosis
BIOCARTA Endocytotic role of NDK, Phosphins and Dynamin PubGene
PICALM
Other databases Probes
Probe Cancer Cytogenetics (Bari) Probe PICALM Related clones
(RZPD - Berlin)
PubMed PubMed 6 Pubmed reference(s) in LocusLink
BibliographyThe t(10;11)(p13;q14) in the U937 cell line results
in the fusion of the AF10 gene and CALM, encoding a new member of
the AP-3 clathrin assembly protein family.Dreyling MH,
Martinez-Climent JA, Zheng M, Mao J, Rowley JD, Bohlander SK Proc
Natl Acad Sci U S A 1996 May 14;93(10):4804-9 Medline 96209813
Hematologic malignancies with the t(10;11) (p13;q21) have the same
molecular event and a variety of morphologic or immunologic
phenotypes.Kobayashi H, Hosoda F, Maseki N, Sakurai M, Imashuku S,
Ohki M, Kaneko Y Genes Chromosomes Cancer 1997 Nov;20(3):253-9
Medline 98032536 REVIEW articles automatic search in PubMed Last
year publications automatic search in PubMed
BiblioGene - INIST
Contributor(s)Written 01-1998 Jean-Loup Huret
CitationThis paper should be referenced as such : Huret JL .
PICALM (phosphatidylinositol binding clathrin assembly protein).
Atlas Genet Cytogenet Oncol Haematol. January 1998 . URL :
http://www.infobiogen.fr/services/chromcancer/Genes/CALM.html
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 4 -
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© Atlas of Genetics and Cytogenetics in Oncology and
Haematology
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 5 -
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Atlas of Genetics and Cytogenetics in Oncology and
Haematology
CAN
NUP214 (nucleoporin 214kDa)
IdentityOther names CAIN NUP214 (nuclear pore complex protein
241 kDa) Nucleoporin Hugo NUP214 Location 9q34.3 more telomeric
than ABL1; less than TAN1.
CAN (9q34.3) - Courtesy Mariano Rocchi, Resources for Molecular
Cytogenetics. Laboratories
willing to validate the probes are welcome : contact
[email protected]
DNA/RNADescription spans on a 130 kb and more genomic segment
Transcription 7.5 kb mRNA
Protein
Description 2090 amino acids; 214 kDa; dimerization domains (2
leucine zippers) and a repeated motif; forms homodimers
Expression thymus, bone marrow, spleen, kidney, testis, brain;
apparently not in other tissues Localisation nuclear membrane
localisation
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 6 -
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Function nucleoporin: associated with the nuclear pore complex;
role in nucleocytoplasmic transport processes and cell cycle
progression
Homology C-term part of CAN has homologies with proteins of the
nucleoporin family
Implicated inEntity t(6;9)(p23;q34)/ANLL or MDS -->DEK - CAN
Disease M2, M4 ANLL or MDS Prognosis remission difficult to obtain
Cytogenetics this chromosome anomaly may be over loocked
Hybrid/Mutated Gene 5' DEK - 3' CAN; chromosome 6 breakpoint
clusters in a single intron
Abnormal Protein
head to tail DEK/CAN fusion protein (the alternative SET/CAN is
exceptional); almost the entire DEK protein fused to the C-terminal
two-thirds of the CAN protein; nuclear localization
Entity t(6;9)(p23;q34)/AUL --> SET-CAN (exceptional)
Breakpoints
External links Nomenclature
Hugo NUP214 GDB NUP214 Entrez_Gene NUP214 8021 nucleoporin
214kDa
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 7 -
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Cards Atlas CAN GeneCards NUP214 Ensembl NUP214 CancerGene
NUP214 Genatlas NUP214 GeneLynx NUP214 eGenome NUP214 euGene
8021
Genomic and cartography
GoldenPath NUP214 - 9q34.3 chr9:131030535-131138644 + 9q34.13
(hg17-May_2004) Ensembl NUP214 - 9q34.13 [CytoView] NCBI Genes Cyto
Gene Seq [Map View - NCBI] OMIM Disease map [OMIM] HomoloGene
NUP214
Gene and transcription Genbank AB159230 [ SRS ] AB159230 [
ENTREZ ] Genbank AJ420413 [ SRS ] AJ420413 [ ENTREZ ] Genbank
AL832609 [ SRS ] AL832609 [ ENTREZ ] Genbank BC012500 [ SRS ]
BC012500 [ ENTREZ ] Genbank BC045620 [ SRS ] BC045620 [ ENTREZ ]
RefSeq NM_005085 [ SRS ] NM_005085 [ ENTREZ ] RefSeq NT_086756 [
SRS ] NT_086756 [ ENTREZ ] AceView NUP214 AceView - NCBI TRASER
NUP214 Traser - Stanford Unigene Hs.461860 [ SRS ] Hs.461860 [ NCBI
] HS461860 [ spliceNest ]
Protein : pattern, domain, 3D structure SwissProt P35658 [ SRS]
P35658 [ EXPASY ] P35658 [ INTERPRO ] Interpro IPR001680 WD40 [ SRS
] IPR001680 WD40 [ EBI ] Interpro IPR011046 WD40_like [ SRS ]
IPR011046 WD40_like [ EBI ] CluSTr P35658
Pfam PF03093 Nucleoporin_FG [ SRS ] PF03093 Nucleoporin_FG [
Sanger ] pfam03093 [ NCBI-CDD ]
Smart SM00320 WD40 [EMBL] Blocks P35658
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 8 -
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Polymorphism : SNP, mutations, diseases OMIM 114350 [ map ]
GENECLINICS 114350 SNP NUP214 [dbSNP-NCBI] SNP NM_005085 [SNP-NCI]
SNP NUP214 [GeneSNPs - Utah] NUP214 [SNP - CSHL] NUP214] [HGBASE -
SRS]
General knowledge Family Browser NUP214 [UCSC Family Browser]
SOURCE NM_005085 SMD Hs.461860 SAGE Hs.461860 Amigo
component|integral to membrane Amigo component|nuclear pore Amigo
component|nuclear pore Amigo component|nucleus Amigo
component|outer membrane Amigo function|porin activity Amigo
process|protein-nucleus import, docking Amigo process|transport
Amigo function|transporter activity PubGene NUP214
Other databases Probes
Probe Cancer Cytogenetics (Bari) Probe NUP214 Related clones
(RZPD - Berlin)
PubMed PubMed 16 Pubmed reference(s) in LocusLink
BibliographyThe translocation (6;9), associated with a specific
subtype of acute myeloid leukemia, results in the fusion of two
genes, dek and can, and the expression of a chimeric,
leukemia-specific dek-can mRNA.von Lindern M, Fornerod M, van Baal
S, Jaegle M, de Wit T, Buijs A, Grosveld G Mol Cell Biol 1992
Apr;12(4):1687-97 Medline 92195315
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 9 -
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Relocation of the carboxyterminal part of CAN from the nuclear
envelope to the nucleus as a result of leukemia-specific chromosome
rearrangements.Fornerod M, Boer J, van Baal S, Jaegle M, von
Lindern M, Murti KG, Davis D, Bonten J, Buijs A, Grosveld G
Oncogene 1995 May 4;10(9):1739-48 Medline 95273090 Interaction of
cellular proteins with the leukemia specific fusion proteins
DEK-CAN and SET-CAN and their normal counterpart, the nucleoporin
CAN.Fornerod M, Boer J, van Baal S, Morreau H, Grosveld G Oncogene
1996 Oct 17;13(8):1801-8 Medline 97050788 REVIEW articles automatic
search in PubMed Last year publications automatic search in
PubMed
BiblioGene - INIST
Contributor(s)Written 01-1998 Jean-Loup Huret
CitationThis paper should be referenced as such : Huret JL .
CAN; NUP214 (nucleoporin 214kDa). Atlas Genet Cytogenet Oncol
Haematol. January 1998 . URL :
http://www.infobiogen.fr/services/chromcancer/Genes/CAN.html ©
Atlas of Genetics and Cytogenetics in Oncology and Haematology
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 10 -
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Atlas of Genetics and Cytogenetics in Oncology and
Haematology
DDX10
IdentityOther names HRH-J8 Hugo DDX10 Location 11q22 telomeric
to ATM.
DDX10 (11q22) - Courtesy Mariano Rocchi, Resources for Molecular
Cytogenetics. Laboratories
willing to validate the probes are welcome : contact
[email protected]
DNA/RNADescription at least 12 exons; spans more than a 200-kb
region Transcription alternative splicing; 3.2 and 5.0 kb mRNA
Protein
Description contains 2 nuclear localization signals (NLS), a
DEAD box (DEAD for: ASP-GLU_ALA-ASP)
Expression wide Localisation nucleolus (probable) Function
putative ATP-dependent DEAD box RNA helicase; possible role in
ribosome
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 11 -
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assembly through rRNA processing Homology SPB4 and DRS1
(yeast)
Implicated inEntity inv (11)(p15q22)/MDS or ANLL -->
NUP98-DDX10 Disease therapy related MDS and ANLL; de novo ANLL
Hybrid/Mutated Gene 5' NUP98 - 3' DDX10
Abnormal Protein
fuses the GLFG repeat domains of NUP98 to the charged amino
acids domain of DDX11
External links Nomenclature
Hugo DDX10 GDB DDX10 Entrez_Gene DDX10 1662 DEAD
(Asp-Glu-Ala-Asp) box polypeptide 10
Cards Atlas DDX10 GeneCards DDX10 Ensembl DDX10 CancerGene DDX10
Genatlas DDX10 GeneLynx DDX10 eGenome DDX10 euGene 1662
Genomic and cartography
GoldenPath DDX10 - 11q22 chr11:108041026-108316856 + 11q22.3
(hg17-May_2004) Ensembl DDX10 - 11q22.3 [CytoView] NCBI Genes Cyto
Gene Seq [Map View - NCBI] OMIM Disease map [OMIM] HomoloGene
DDX10
Gene and transcription Genbank AB040537 [ SRS ] AB040537 [
ENTREZ ] Genbank BC049217 [ SRS ] BC049217 [ ENTREZ ]
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 12 -
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Genbank BC064921 [ SRS ] BC064921 [ ENTREZ ] Genbank U28042 [
SRS ] U28042 [ ENTREZ ] RefSeq NM_004398 [ SRS ] NM_004398 [ ENTREZ
] RefSeq NT_086787 [ SRS ] NT_086787 [ ENTREZ ] AceView DDX10
AceView - NCBI TRASER DDX10 Traser - Stanford Unigene Hs.525115 [
SRS ] Hs.525115 [ NCBI ] HS525115 [ spliceNest ]
Protein : pattern, domain, 3D structure SwissProt Q13206 [ SRS]
Q13206 [ EXPASY ] Q13206 [ INTERPRO ]
Prosite PS00039 DEAD_ATP_HELICASE [ SRS ] PS00039
DEAD_ATP_HELICASE [ Expasy ]
Interpro IPR001410 DEAD [ SRS ] IPR001410 DEAD [ EBI ] Interpro
IPR000629 DEAD_box [ SRS ] IPR000629 DEAD_box [ EBI ] Interpro
IPR001650 Helicase_C [ SRS ] IPR001650 Helicase_C [ EBI ] CluSTr
Q13206 Pfam PF00270 DEAD [ SRS ] PF00270 DEAD [ Sanger ] pfam00270
[ NCBI-CDD ]
Pfam PF00271 Helicase_C [ SRS ] PF00271 Helicase_C [ Sanger ]
pfam00271 [ NCBI-CDD ]
Smart SM00487 DEXDc [EMBL] Smart SM00490 HELICc [EMBL] Blocks
Q13206
Polymorphism : SNP, mutations, diseases OMIM 601235 [ map ]
GENECLINICS 601235 SNP DDX10 [dbSNP-NCBI] SNP NM_004398 [SNP-NCI]
SNP DDX10 [GeneSNPs - Utah] DDX10 [SNP - CSHL] DDX10] [HGBASE -
SRS]
General knowledge Family Browser DDX10 [UCSC Family Browser]
SOURCE NM_004398 SMD Hs.525115 SAGE Hs.525115 Amigo function|ATP
binding Amigo function|ATP-dependent helicase activity Amigo
function|RNA binding Amigo function|RNA helicase activity
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 13 -
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PubGene DDX10 Other databases Probes
Probe Cancer Cytogenetics (Bari) Probe DDX10 Related clones
(RZPD - Berlin)
PubMed PubMed 5 Pubmed reference(s) in LocusLink
BibliographyA human gene (DDX10) encoding a putative DEAD-box
RNA helicase at 11q22-q23.Savitsky K, Ziv Y, Bar-Shira A, Gilad S,
Tagle DA, Smith S, Uziel T, Sfez S, Nahmias J, Sartiel A, Eddy RL,
Shows TB, Collins FS, Shiloh Y, Rotman G Genomics 1996 Apr
15;33(2):199-206 Medline 96301396 The inv(11)(p15q22) chromosome
translocation of de novo and therapy-related myeloid malignancies
results in fusion of the nucleoporin gene, NUP98, with the putative
RNA helicase gene, DDX10.Arai Y, Hosoda F, Kobayashi H, Arai K,
Hayashi Y, Kamada N, Kaneko Y, Ohki M Blood 1997 Jun
1;89(11):3936-44 Medline 97309415 REVIEW articles automatic search
in PubMed Last year publications automatic search in PubMed
BiblioGene - INIST
Contributor(s)Written 01-1998 Jean-Loup Huret
CitationThis paper should be referenced as such : Huret JL .
DDX10. Atlas Genet Cytogenet Oncol Haematol. January 1998 . URL :
http://www.infobiogen.fr/services/chromcancer/Genes/DDX10.html
© Atlas of Genetics and Cytogenetics in Oncology and
Haematology
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 14 -
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Atlas of Genetics and Cytogenetics in Oncology and
Haematology
DEK
IdentityHugo DEK Location 6p23
DEK (6p23) - Courtesy Mariano Rocchi, Resources for Molecular
Cytogenetics. Laboratories
willing to validate the probes are welcome : contact
[email protected]
DNA/RNADescription spans on a 40 kb genomic segment
Transcription 2.7 kb mRNA; coding sequence: 1.1 kb
Protein
Description 375 amino acids; 43 kDa; contains numerous acidic
domains (Asp/Glu rich) and a nuclear localisation signal
Expression wide Localisation potentially nuclear Function site
specific DNA binding protein involved in transcriptional regulation
and signal
transduction
Implicated inEntity t(6;9)(p23;q34)/ANLL or MDS -->DEK-CAN
Disease M2, M4 ANLL or MDS Prognosis remission difficult to obtain
Cytogenetics this chromosome anomaly may be over loocked
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 15 -
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Hybrid/Mutated Gene 5' DEK - 3' CAN; chromosome 6 breakpoint
clusters in a single intron
Abnormal Protein
head to tail DEK/CAN fusion protein (the alternative SET/CAN is
exceptional); almost the entire DEK protein fused to the C-terminal
two-thirds of the CAN protein; nuclear localization
External links Nomenclature
Hugo DEK GDB DEK Entrez_Gene DEK 7913 DEK oncogene (DNA
binding)
Cards Atlas DEK_23 GeneCards DEK Ensembl DEK CancerGene DEK
Genatlas DEK GeneLynx DEK eGenome DEK euGene 7913
Genomic and cartography GoldenPath DEK - 6p23
chr6:18332392-18372750 - 6p22.3 (hg17-May_2004) Ensembl DEK -
6p22.3 [CytoView] NCBI Genes Cyto Gene Seq [Map View - NCBI] OMIM
Disease map [OMIM] HomoloGene DEK
Gene and transcription Genbank AL031774 [ SRS ] AL031774 [
ENTREZ ] Genbank BC012442 [ SRS ] BC012442 [ ENTREZ ] Genbank
BC035259 [ SRS ] BC035259 [ ENTREZ ] Genbank BX641063 [ SRS ]
BX641063 [ ENTREZ ] Genbank X64229 [ SRS ] X64229 [ ENTREZ ] RefSeq
NM_003472 [ SRS ] NM_003472 [ ENTREZ ] RefSeq NT_086686 [ SRS ]
NT_086686 [ ENTREZ ] AceView DEK AceView - NCBI TRASER DEK Traser -
Stanford
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 16 -
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Unigene Hs.484813 [ SRS ] Hs.484813 [ NCBI ] HS484813 [
spliceNest ] Protein : pattern, domain, 3D structure
SwissProt P35659 [ SRS] P35659 [ EXPASY ] P35659 [ INTERPRO ]
Interpro IPR003034 SAP [ SRS ] IPR003034 SAP [ EBI ] Interpro
IPR000897 SRP54 [ SRS ] IPR000897 SRP54 [ EBI ] CluSTr P35659 Pfam
PF02037 SAP [ SRS ] PF02037 SAP [ Sanger ] pfam02037 [ NCBI-CDD ]
Blocks P35659
Polymorphism : SNP, mutations, diseases OMIM 125264 [ map ]
GENECLINICS 125264 SNP DEK [dbSNP-NCBI] SNP NM_003472 [SNP-NCI] SNP
DEK [GeneSNPs - Utah] DEK [SNP - CSHL] DEK] [HGBASE - SRS]
General knowledge Family Browser DEK [UCSC Family Browser]
SOURCE NM_003472 SMD Hs.484813 SAGE Hs.484813 Amigo function|DNA
binding Amigo function|GTP binding Amigo function|RNA binding Amigo
process|SRP-dependent cotranslational protein-membrane targeting
Amigo function|histone binding Amigo component|nucleus Amigo
process|regulation of transcription from Pol II promoter Amigo
component|signal recognition particle (sensu Eukaryota) Amigo
process|signal transduction Amigo function|specific RNA polymerase
II transcription factor activity Amigo process|viral genome
replication PubGene DEK
Other databases Probes
Probe Cancer Cytogenetics (Bari) Probe DEK Related clones (RZPD
- Berlin)
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 17 -
-
PubMed PubMed 12 Pubmed reference(s) in LocusLink
BibliographyThe translocation (6;9), associated with a specific
subtype of acute myeloid leukemia, results in the fusion of two
genes, dek and can, and the expression of a chimeric,
leukemia-specific dek-can mRNA.von Lindern M, Fornerod M, van Baal
S, Jaegle M, de Wit T, Buijs A, Grosveld G Mol Cell Biol 1992
Apr;12(4):1687-97 Medline 92195315 Relocation of the
carboxyterminal part of CAN from the nuclear envelope to the
nucleus as a result of leukemia-specific chromosome
rearrangements.Fornerod M, Boer J, van Baal S, Jaegle M, von
Lindern M, Murti KG, Davis D, Bonten J, Buijs A, Grosveld G
Oncogene 1995 May 4;10(9):1739-48 Medline 95273090 Interaction of
cellular proteins with the leukemia specific fusion proteins
DEK-CAN and SET-CAN and their normal counterpart, the nucleoporin
CAN.Fornerod M, Boer J, van Baal S, Morreau H, Grosveld G Oncogene
1996 Oct 17;13(8):1801-8 Medline 97050788 DEK, an autoantigen
involved in a chromosomal translocation in acute myelogenous
leukemia, binds to the HIV-2 enhancer.Fu GK, Grosveld G, Markovitz
DM Proc Natl Acad Sci U S A 1997 Mar 4;94(5):1811-5 Medline
97203143 REVIEW articles automatic search in PubMed Last year
publications automatic search in PubMed
BiblioGene - INIST
Contributor(s)Written 01-1998 Jean-Loup Huret
CitationThis paper should be referenced as such : Huret JL .
DEK. Atlas Genet Cytogenet Oncol Haematol. January 1998 . URL :
http://www.infobiogen.fr/services/chromcancer/Genes/DEK_23.html
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 18 -
-
© Atlas of Genetics and Cytogenetics in Oncology and
Haematology
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 19 -
-
Atlas of Genetics and Cytogenetics in Oncology and
Haematology
HOXA9
IdentityOther names HOX1G (homeobox-1G); Hugo HOXA9 Location
7p15
Protein
Description 129 amino acids; DNA binding domain (homeobox) in
C-term Localisation nuclear Function sequence specific
transcription factor; role during embryonic development
(patterning); HOX genes are also expressed in adult tissues,
including blood cells; probable role in blood cell
differenciation
Homology with class 1 homeodomain proteins
Implicated inEntity t(7;11)(p15;p15)/ANLL --> NUP98-HOXA9
Disease M2-M4 ANLL mostly; occasionally: CML-like cases Prognosis
mean survival: 15 mths Cytogenetics sole anomaly most often
Hybrid/Mutated Gene 5' NUP98 - 3' HOXA9
Abnormal Protein fuses the GLFG repeat domains of NUP98 to the
HOXA9 homeobox
Breakpoints
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 20 -
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External links Nomenclature
Hugo HOXA9 GDB HOXA9 Entrez_Gene HOXA9 3205 homeo box A9
Cards Atlas HOXA9 GeneCards HOXA9 Ensembl HOXA9 CancerGene HOXA9
Genatlas HOXA9 GeneLynx HOXA9 eGenome HOXA9 euGene 3205
Genomic and cartography GoldenPath HOXA9 - 7p15
chr7:26975298-26978389 - 7p15.2 (hg17-May_2004) Ensembl HOXA9 -
7p15.2 [CytoView] NCBI Genes Cyto Gene Seq [Map View - NCBI] OMIM
Disease map [OMIM] HomoloGene HOXA9
Gene and transcription Genbank AF010258 [ SRS ] AF010258 [
ENTREZ ] Genbank U81511 [ SRS ] U81511 [ ENTREZ ] Genbank BC006537
[ SRS ] BC006537 [ ENTREZ ] Genbank BC010023 [ SRS ] BC010023 [
ENTREZ ]
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 21 -
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Genbank BG258601 [ SRS ] BG258601 [ ENTREZ ] RefSeq NM_002142 [
SRS ] NM_002142 [ ENTREZ ] RefSeq NM_152739 [ SRS ] NM_152739 [
ENTREZ ] RefSeq NT_086703 [ SRS ] NT_086703 [ ENTREZ ] AceView
HOXA9 AceView - NCBI TRASER HOXA9 Traser - Stanford Unigene
Hs.127428 [ SRS ] Hs.127428 [ NCBI ] HS127428 [ spliceNest ]
Protein : pattern, domain, 3D structure SwissProt P31269 [ SRS]
P31269 [ EXPASY ] P31269 [ INTERPRO ] Prosite PS00027 HOMEOBOX_1 [
SRS ] PS00027 HOMEOBOX_1 [ Expasy ] Prosite PS50071 HOMEOBOX_2 [
SRS ] PS50071 HOMEOBOX_2 [ Expasy ] Interpro IPR001356 Homeobox [
SRS ] IPR001356 Homeobox [ EBI ] Interpro IPR009057
Homeodomain_like [ SRS ] IPR009057 Homeodomain_like [ EBI ]
Interpro IPR006711 Hox9_act [ SRS ] IPR006711 Hox9_act [ EBI ]
Interpro IPR000047 HTH_lambrepressr [ SRS ] IPR000047
HTH_lambrepressr [ EBI ] CluSTr P31269 Pfam PF00046 Homeobox [ SRS
] PF00046 Homeobox [ Sanger ] pfam00046 [ NCBI-CDD ]Pfam PF04617
Hox9_act [ SRS ] PF04617 Hox9_act [ Sanger ] pfam04617 [ NCBI-CDD ]
Smart SM00389 HOX [EMBL] Prodom PD000010
Homeobox[INRA-Toulouse]
Prodom P31269 HXA9_HUMAN [ Domain structure ] P31269 HXA9_HUMAN
[ sequences sharing at least 1 domain ]
Blocks P31269 Polymorphism : SNP, mutations, diseases
OMIM 142956 [ map ] GENECLINICS 142956 SNP HOXA9 [dbSNP-NCBI]
SNP NM_002142 [SNP-NCI] SNP NM_152739 [SNP-NCI] SNP HOXA9 [GeneSNPs
- Utah] HOXA9 [SNP - CSHL] HOXA9] [HGBASE - SRS]
General knowledge Family Browser HOXA9 [UCSC Family Browser]
SOURCE NM_002142 SOURCE NM_152739 SMD Hs.127428 SAGE Hs.127428
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 22 -
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Amigo process|development Amigo component|nucleus Amigo
component|nucleus Amigo process|regulation of transcription,
DNA-dependent Amigo process|transcription Amigo
function|transcription factor activity Amigo
function|transcriptional activator activity PubGene HOXA9
Other databases Probes
Probe HOXA9 Related clones (RZPD - Berlin) PubMed
PubMed 21 Pubmed reference(s) in LocusLink
BibliographyFusion of the nucleoporin gene NUP98 to HOXA9 by the
chromosome translocation t(7;11)(p15;p15) in human myeloid
leukaemia.Nakamura T, Largaespada DA, Lee MP, Johnson LA, Ohyashiki
K, Toyama K, Chen SJ, Willman CL, Chen IM, Feinberg AP, Jenkins NA,
Copeland NG, Shaughnessy JD Jr Nat Genet 1996 Feb;12(2):154-8
Medline 96154187 The t(7;11)(p15;p15) translocation in acute
myeloid leukaemia fuses the genes for nucleoporin NUP98 and class I
homeoprotein HOXA9.Borrow J, Shearman AM, Stanton VP Jr, Becher R,
Collins T, Williams AJ, Dube I, Katz F, Kwong YL, Morris C,
Ohyashiki K, Toyama K, Rowley J, Housman DE Nat Genet 1996
Feb;12(2):159-67 Medline 96154188 Mice bearing a targeted
interruption of the homeobox gene HOXA9 have defects in myeloid,
erythroid, and lymphoid hematopoiesis.Lawrence HJ, Helgason CD,
Sauvageau G, Fong S, Izon DJ, Humphries RK, Largman C Blood 1997
Mar 15;89(6):1922-30 Medline 97211745 REVIEW articles automatic
search in PubMed Last year publications automatic search in
PubMed
BiblioGene - INIST
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 23 -
-
Contributor(s)Written 01-1998 Jean-loup Huret
CitationThis paper should be referenced as such : Huret JL .
HOXA9. Atlas Genet Cytogenet Oncol Haematol. January 1998 . URL :
http://www.infobiogen.fr/services/chromcancer/Genes/HOXA9.html ©
Atlas of Genetics and Cytogenetics in Oncology and Haematology
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 24 -
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Atlas of Genetics and Cytogenetics in Oncology and
Haematology
NUP98 (nucleoporin 98 kDa) (updated: old version not
available)
IdentityHugo NUP98 Location 11p15
DNA/RNATranscription 3.6, 6.5 , 7.0 kb mRNA
Protein
NUP98 protein - Lyndal Kearney
Description 920 amino acids; 97 kDa; contains repeated motifs
(GLFG and FG) in N-term and a RNA binding motif in C-term
Expression wide Localisation nuclear membrane localisation
Function nucleoporin: associated with the nuclear pore complex;
role in nucleocytoplasmic
transport processes Homology member of the GLFG nucleoporins
Implicated inEntity inv (11)(p15q22)/ myelodysplasic syndrome
(MDS) or acute non lymphocytic
leukemia (ANLL) --> NUP98-DDX10 Disease therapy related MDS
(t-MDS) and ANLL; de novo ANLL Hybrid/Mutated Gene 5' NUP98 - 3'
DDX10
Abnormal Protein fuses the GLFG repeat domains of NUP98 to the
acidic domain of DDX10
Entity t(1;11)(q23;p15.5) / t-MDS orANLL --> NUP98-PMX1
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 25 -
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Disease One case of t-ANLL Hybrid/Mutated Gene 5' NUP98 - 3'
PMX1
Abnormal Protein fuses the GLFG repeat domains of NUP98 to the
homeodomain of PMX1
Entity t(2;11)(q31;p15)/treatment related leukaemia -->
NUP98-HOXD13 Disease so far, only 1 case of treatment related
myelodysplasia evolving towards M6
acute non lymphocytic leukaemia Hybrid/Mutated Gene 5' NUP98 -
3' HOXD13
Abnormal Protein fuses the GLFG repeat domains of NUP98 to the
HOXD13 homeodomain
Entity t(4;11)(q21;p15.5)/ T- acute lymphoblastic leukemia (ALL)
--> NUP98-
RAP1GDS1 Disease 3 cases of adult T-ALL Hybrid/Mutated Gene 5'
NUP98 - 3' RAP1GDS1
Abnormal Protein
fuses the GLFG repeat domains of NUP98 to the entire coding
region of RAP1GDS1. The product, rap1gds, has guanine nucleotide
exchange factor activity.
Entity t(5;11)(q35;p15.5)/ ANLL--> NUP98-NSD1 Disease ANLL. 5
cases reported to date. All were children or young adults (age
range 3-
18 years). Note that the t(5;11)(q35;p15.5) is not detectable by
G-banding. Three cases were reported as cryptic t(5;11) associated
with del(5q); a further two cases were identified in apparently
normal karyotypes.
Hybrid/Mutated Gene 5' NUP98 - 3' NSD1
Abnormal Protein
fuses the GLFG repeat domains of NUP98 to the conserved SET, SAC
and PHD finger domains of the NSD1 gene.
Entity t(7;11)(p15;p15) /ANLL --> NUP98-HOXA9 Disease M2-M4
ANLL mostly; occasionally: CML-like cases Prognosis mean survival:
15 mths Cytogenetics sole anomaly most often Hybrid/Mutated Gene 5'
NUP98 - 3' HOXA9
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 26 -
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Abnormal Protein fuses the GLFG repeat domains of NUP98 to the
HOXA9 homeobox
Entity t(9;11)(p22;p15.5)/ANLL--> NUP98-LEDGF Disease One
case of de novo ANLL Hybrid/Mutated Gene 5' NUP98 - 3' LEDGF
Abnormal Protein
fuses the GLFG repeat domains of NUP98 to the COOH terminal of
the LEDGF gene (encoding transcriptional activators p52 and
p75)
Entity t(11;12)(p15;q13)/treatment related leukemia (t-ANLL/MDS)
Disease 1patient with t-MDS/ANLL Hybrid/Mutated Gene 5'; NUP98 -
3'; unknown
Entity t(11;17)(p15.5;q21) t-MDS/ANLL Disease 1 patient with
t-MDS/ANLL Hybrid/Mutated Gene 5' NUP98 - 3' unknown
Entity t(11;20)(p15.5;q11)/ANLL, t-MDS/ANLL--> NUP98-TOP1
Disease ANLL, t-MDS/ANLL Hybrid/Mutated Gene 5' NUP98 - 3' TOP1
Abnormal Protein fuses the GLFG repeat domains of NUP98 to the
catalytic domain of TOP1
Breakpoints
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 27 -
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External links Nomenclature
Hugo NUP98 GDB NUP98 Entrez_Gene NUP98 4928 nucleoporin
98kDa
Cards Atlas NUP98 GeneCards NUP98 Ensembl NUP98 CancerGene NUP98
Genatlas NUP98 GeneLynx NUP98 eGenome NUP98 euGene 4928
Genomic and cartography GoldenPath NUP98 - 11p15
chr11:3689635-3775468 - 11p15.4 (hg17-May_2004) Ensembl NUP98 -
11p15.4 [CytoView] NCBI Genes Cyto Gene Seq [Map View - NCBI] OMIM
Disease map [OMIM] HomoloGene NUP98
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 28 -
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Gene and transcription Genbank AB038344 [ SRS ] AB038344 [
ENTREZ ] Genbank AB040538 [ SRS ] AB040538 [ ENTREZ ] Genbank
AF071076 [ SRS ] AF071076 [ ENTREZ ] Genbank AF071077 [ SRS ]
AF071077 [ ENTREZ ] Genbank AF116074 [ SRS ] AF116074 [ ENTREZ ]
RefSeq NM_005387 [ SRS ] NM_005387 [ ENTREZ ] RefSeq NM_016320 [
SRS ] NM_016320 [ ENTREZ ] RefSeq NM_139131 [ SRS ] NM_139131 [
ENTREZ ] RefSeq NM_139132 [ SRS ] NM_139132 [ ENTREZ ] RefSeq
NT_086779 [ SRS ] NT_086779 [ ENTREZ ] AceView NUP98 AceView - NCBI
TRASER NUP98 Traser - Stanford Unigene Hs.524750 [ SRS ] Hs.524750
[ NCBI ] HS524750 [ spliceNest ]
Protein : pattern, domain, 3D structure SwissProt P52948 [ SRS]
P52948 [ EXPASY ] P52948 [ INTERPRO ] CluSTr P52948 Blocks
P52948
Polymorphism : SNP, mutations, diseases OMIM 601021 [ map ]
GENECLINICS 601021 SNP NUP98 [dbSNP-NCBI] SNP NM_005387 [SNP-NCI]
SNP NM_016320 [SNP-NCI] SNP NM_139131 [SNP-NCI] SNP NM_139132
[SNP-NCI] SNP NUP98 [GeneSNPs - Utah] NUP98 [SNP - CSHL] NUP98]
[HGBASE - SRS]
General knowledge Family Browser NUP98 [UCSC Family Browser]
SOURCE NM_005387 SOURCE NM_016320 SOURCE NM_139131 SOURCE NM_139132
SMD Hs.524750 SAGE Hs.524750
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 29 -
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Amigo process|DNA replication Amigo component|nuclear pore Amigo
process|nuclear pore organization and biogenesis Amigo
process|nucleocytoplasmic transport Amigo component|nucleoplasm
Amigo function|protein binding Amigo process|protein transport
Amigo process|protein-nucleus import, docking Amigo
function|structural constituent of nuclear pore Amigo
function|transporter activity PubGene NUP98
Other databases Probes
Probe NUP98 Related clones (RZPD - Berlin) PubMed
PubMed 29 Pubmed reference(s) in LocusLink
BibliographyFusion of the nucleoporin gene NUP98 to HOXA9 by the
chromosome translocation t(7;11)(p15;p15) in human myeloid
leukaemia.Nakamura T, Largaespada DA, Lee MP, Johnson LA, Ohyashiki
K, Toyama K, Chen SJ, Willman CL, Chen IM, Feinberg AP, Jenkins NA,
Copeland NG, Shaughnessy JD Jr. Nat Genet 1996 Feb;12(2):154-158
Medline 96154187 The inv(11)(p15q22) chromosome translocation of de
novo and therapy-related myeloid malignancies results in fusion of
the nucleoporin gene, NUP98, with the putative RNA helicase gene,
DDX10.Arai Y, Hosoda F, Kobayashi H, Arai K, Hayashi Y, Kamada N,
Kaneko Y, Ohki M. Blood 1997 Jun 1;89(11):3936-44 Medline 97309415
The vertebrate GLFG nucleoporin, Nup98, is an essential component
of multiple RNA export pathways.Powers MA, Forbes DJ, Dahlberg JE,
Lund E J Cell Biol 1997 Jan 27;136(2):241-50 Medline 97167679
NUP98-HOXD13 gene fusion in therapy-related acute myelogenous
leukemiaRaza-Egilmez SZ, Jani-Sait SN, Grossi M, Higgins MJ, Shows
TB, Aplan PD
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 30 -
-
Cancer Res 1998; 58(19): 4269-4273 Medline 98438040 The
t(11;20)(p15;q11) chromosomal translocation associated with
therapy-related myelodysplastic syndrome results in an NUP98-TOP1
fusion.Ahuja HG, Felix CA, Aplan PD Blood 1999; 94(9): 3258-3261
Medline 10556215 The (4;11)(q21;p15) translocation fuses the NUP98
and RAP1GDS1 genes and is recurrent in T-cell acute lymphocytic
leukemia.Hussey DJ, Nicola M, Moore S, Peters GB, Dobrovic A. Blood
1999; 94(6): 2072-2079. Medline 10477737 A new recurrent
translocation, t(5;11)(q35;p15.5), associated with del(5q) in
childhood acute myeloid leukemia.Jaju RJ, Haas OA, Neat M, Harbott
J, Saha V, Boultwood J, Brown JM, Pirc-Danoewinata H, Krings BW,
Muller U, Morris, SW, Wainscoat JS, Kearney L. Blood 1999; 94(2):
773-780. Medline 10397745 NUP98 gene rearrangements in leukemia
detected by fluorescence in situ hybridization (FISH).Kobzev YN,
Rowley JD. Blood 1999; 94 Suppl 1: Abst 2221. NUP98 is fused to
PMX1 homeobox gene in human acute myelogenous leukemia with
chromosome translocation t(1;11)(q23;p15).Nakamura T, Yamazaki Y,
Hatano Y, Miura I. Blood 1999 ;94(2): 741-747 Medline 10397741
Potential role for DNA topoisomerase II poisons in the generation
of t(11;20)(p15;q11) translocations.Ahuja HG, Felix CA, Aplan PD
Genes Chromosomes Cancer 2000; 29(2): 96-105 Medline 10959088
t(9;11)(p22;p15) in acute myeloid leukemia results in a fusion
between NUP98 and the gene encoding transcriptional coactivators
p52 and p75-lens epithelium-derived growth factor (LEDGF).Ahuja HG,
Hong J, Aplan PD, Tcheurekdjian L, Forman SJ, Slovak ML.
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 31 -
-
Cancer Res 2000; 60(22): 6227-6229 Medline 11103774 A novel
gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo
childhood acute myeloid leukemia.Jaju RJ, Fidler C, Haas OA,
Strickson AJ, Watkins F, Clark K, Cross NC, Cheng JF, Aplan PD,
Kearney L, Boultwood J, Wainscoat JS. Blood 2001; 98(4): 1264-1247
Medline UI NUP98 gene fusions in hematologic malignancies.Lam DH,
Aplan PD. Leukemia 2001; 15(11): 1689-1695 (REVIEW) Medline
11681408 A cryptic t(5;11)(q35;p15.5) in two AML children with
apparently normal karyotypes, identified by a multiplex FISH
telomere assayBrown M, Jawad M, Eils R, Twigg SFR, Saracoglu K,
Sauerbrey A, Thomas AE, Harbott J, Kearney L. Blood (2002) (in
press) REVIEW articles automatic search in PubMed Last year
publications automatic search in PubMed
BiblioGene - INIST
Contributor(s)Written 01-1998 Jean-Loup Huret Updated 11-1998
Jean-Loup Huret Updated 02-2000 Jean-Loup Huret Updated 03-2002
Lyndal Kearney
CitationThis paper should be referenced as such : Huret JL .
NUP98 (nucleoporin 98 kDa). Atlas Genet Cytogenet Oncol Haematol.
January 1998 . URL :
http://www.infobiogen.fr/services/chromcancer/Genes/NUP98.html
Huret JL . NUP98 (nucleoporin 98 kDa). Atlas Genet Cytogenet Oncol
Haematol. November 1998 . URL :
http://www.infobiogen.fr/services/chromcancer/Genes/NUP98.html
Huret JL . NUP98 (nucleoporin 98 kDa). Atlas Genet Cytogenet Oncol
Haematol. February 2000 .
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 32 -
-
URL :
http://www.infobiogen.fr/services/chromcancer/Genes/NUP98.html
Kearney L . NUP98 (nucleoporin 98 kDa). Atlas Genet Cytogenet Oncol
Haematol. March 2002 . URL :
http://www.infobiogen.fr/services/chromcancer/Genes/NUP98.html
© Atlas of Genetics and Cytogenetics in Oncology and
Haematology
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 33 -
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Atlas of Genetics and Cytogenetics in Oncology and
Haematology
TCTA (T-cell leukemia translocation-associated gene) (updated:
old version not available)
IdentityHugo TCTA Location 3p21
DNA/RNA
DNA diagram Transcription 2.1 kb mRNA
Protein
Description 103 amino acids; 11 kDa; rich in hydrophobic amino
acids (residues 41-61) Expression wide, especially in kidneys
Localisation may be a membrane associated protein, as there is a
hydrophobic domain Function unknown Homology none is known
Implicated inEntity t(1;3)(p32;p21)/T-cell ALL --> TAL1 -
TCTA Disease T-cell ALL Hybrid/Mutated Gene head to head
orientation of TAL1 and TCTA
Abnormal Protein no fusion protein, but possibly promoter
exchange and gene disregulation
To be noted
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 34 -
-
on day 04 Feb 1998, nothing new has appeared since the above
coted paper
External links Nomenclature
Hugo TCTA GDB TCTA Entrez_Gene TCTA 6988 T-cell leukemia
translocation altered gene
Cards Atlas TCTA GeneCards TCTA Ensembl TCTA CancerGene TCTA
Genatlas TCTA GeneLynx TCTA eGenome TCTA euGene 6988
Genomic and cartography GoldenPath TCTA - 3p21
chr3:49424643-49428912 + 3p21.31 (hg17-May_2004) Ensembl TCTA -
3p21.31 [CytoView] NCBI Genes Cyto Gene Seq [Map View - NCBI] OMIM
Disease map [OMIM] HomoloGene TCTA
Gene and transcription Genbank AK000824 [ SRS ] AK000824 [
ENTREZ ] Genbank BC005157 [ SRS ] BC005157 [ ENTREZ ] Genbank
CR457411 [ SRS ] CR457411 [ ENTREZ ] Genbank L41143 [ SRS ] L41143
[ ENTREZ ] RefSeq NM_022171 [ SRS ] NM_022171 [ ENTREZ ] RefSeq
NT_086638 [ SRS ] NT_086638 [ ENTREZ ] AceView TCTA AceView - NCBI
TRASER TCTA Traser - Stanford Unigene Hs.517962 [ SRS ] Hs.517962 [
NCBI ] HS517962 [ spliceNest ]
Protein : pattern, domain, 3D structure SwissProt P57738 [ SRS]
P57738 [ EXPASY ] P57738 [ INTERPRO ] CluSTr P57738 Blocks
P57738
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 35 -
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Polymorphism : SNP, mutations, diseases OMIM 600690 [ map ]
GENECLINICS 600690 SNP TCTA [dbSNP-NCBI] SNP NM_022171 [SNP-NCI]
SNP TCTA [GeneSNPs - Utah] TCTA [SNP - CSHL] TCTA] [HGBASE -
SRS]
General knowledge Family Browser TCTA [UCSC Family Browser]
SOURCE NM_022171 SMD Hs.517962 SAGE Hs.517962 PubGene TCTA
Other databases Probes
Probe TCTA Related clones (RZPD - Berlin) PubMed
PubMed 2 Pubmed reference(s) in LocusLink
BibliographyCloning and characterization of TCTA, a gene located
at the site of a t(1;3) translocation.Aplan PD, Johnson BE, Russell
E, Chervinsky DS, Kirsch IR Cancer Res 1995 May 1;55(9):1917-21
Medline 95246031 REVIEW articles automatic search in PubMed Last
year publications automatic search in PubMed
BiblioGene - INIST
Contributor(s)Written 01-1998 Jean-Loup Huret Updated 03-1998
Jean-Loup Huret
CitationThis paper should be referenced as such : Huret JL .
TCTA (T-cell leukemia translocation-associated gene). Atlas Genet
Cytogenet Oncol Haematol. January 1998 . URL :
http://www.infobiogen.fr/services/chromcancer/Genes/TCTA.html Huret
JL . TCTA (T-cell leukemia translocation-associated gene). Atlas
Genet Cytogenet Oncol
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 36 -
-
Haematol. March 1998 . URL :
http://www.infobiogen.fr/services/chromcancer/Genes/TCTA.html
© Atlas of Genetics and Cytogenetics in Oncology and
Haematology
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 37 -
-
Atlas of Genetics and Cytogenetics in Oncology and
Haematology
BLM (Bloom) (updated: old version not available)
IdentityHugo BLM Location 15q26.1
DNA/RNATranscription 4.4kb mRNA
Protein
Description 1417 amino acids; ATP binding in amino acid 689-696;
DEAH box in 795-798; two putative nuclear localization signals in
the C-term in 1334-1349
Expression accumulates to high levels in S phase of the cell
cycle, persists in G2/M and sharply declines in G1.
Hyperphoshorylated in mitosis
Localisation nuclear (PML nuclear bodies and nucleolus) Function
• 3'-5'DNA helicase; probable role in DNA replication and
double-strand break
repair • Preferred substrates : G-quadruplex DNA, D-loops
structures and X-junctions. • Recombinant protein promotes
ATP-dependent branch migration of Hollyday junctions, effects, with
topoisomerase III?, the resolution of a recombination intermediate
containing a double Holliday junction with no flanking sequence
exchanges, and possess a strand pairing activity. • Recombinant BLM
possess a strand pairing activity. • Participates in a supercomplex
of BRCA1 -associated proteins named BASC (BRCA1-Associated genome
Surveillance Complex) containing ATM (defective in ataxia
telangiectasia), NBS1 (defective in Nijmegen syndrome) and MRE11
(defective in ataxia-telangiectasia-like disorder), MLH1, MSH2 and
MSH6, which are involved in human non-polyposis colorectal cancer,
RAD50 and DNA replication factor C. • Participates in a complex
named BRAFT (BLM, RPA, FA, Topoisomerase III) containing five of
the Fanconia Anemia (FA) complementation group proteins (FANCA,
FANCG, FANCC, FANCE and FANCF). • Interacts physically and/or
functionally with p53, 53BP1, WRN, MLH1, RAD51, TRF2, ATR, the
largest subunit of CAF-1, ligase IV, FEN1, Mus81, the
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 38 -
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monoubiquitinated FANCD2 isoform • Is Associated with telomeres
and ribosomal DNA repeats. • Is phosphorylated in mitotic cells
through the cdc2 pathway, and in response to DNA damaging agents or
stalled replication forks.
Homology homologous to RecQ helicases, a subfamily of DExH
box-containing helicases; in particular, similarity with the four
known human members in the RecQ subfamily, human RecQL, human Wrn,
the product of the Werner syndrome gene, and the human RecQL4,
involved in the Rothmund-Thomson syndrome, and RecQL5 proteins
MutationsGerminal five BLM mutations introducing amino acid
substitutions and four BLM
mutations introducing premature nonsense codons into the coding
sequence have been described to date; one BLM mutation consisting
in a 6 bp deletion accompanied by a 7 bp insertion at nucleic acid
position 2281 is common in patients from Ashkenazi Jewish ancestry,
leading to a truncated protein of 739 amino acids in length; two
BLM mutations, 631delCAA and 1610insA were detected in japanese
patients.
Implicated inEntity Bloom syndrome Disease Bloom syndrome is a
chromosome instability syndrome/cancer prone disease (at
risk of numerous, early occurring cancers of various types)
Prognosis 1/3 of patients are dead at mean age 24 yrs, and the mean
age of the 2/3 remaining
alive patients is 22 yrs Cytogenetics chromatid/chromosome
breaks; triradial and quadriradial figures, highly elevated
spontaneous sister chromatid exchange rate
External links Nomenclature
Hugo BLM GDB BLM Entrez_Gene BLM 641 Bloom syndrome
Cards Atlas BLM109 GeneCards BLM Ensembl BLM CancerGene BLM
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 39 -
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Genatlas BLM GeneLynx BLM eGenome BLM euGene 641
Genomic and cartography GoldenPath BLM - 15q26.1
chr15:89061606-89159601 + 15q26.1 (hg17-May_2004) Ensembl BLM -
15q26.1 [CytoView] NCBI Genes Cyto Gene Seq [Map View - NCBI] OMIM
Disease map [OMIM] HomoloGene BLM
Gene and transcription Genbank BC034480 [ SRS ] BC034480 [
ENTREZ ] Genbank U39817 [ SRS ] U39817 [ ENTREZ ] RefSeq NM_000057
[ SRS ] NM_000057 [ ENTREZ ] RefSeq NT_086832 [ SRS ] NT_086832 [
ENTREZ ] AceView BLM AceView - NCBI TRASER BLM Traser - Stanford
Unigene Hs.169348 [ SRS ] Hs.169348 [ NCBI ] HS169348 [ spliceNest
]
Protein : pattern, domain, 3D structure SwissProt P54132 [ SRS]
P54132 [ EXPASY ] P54132 [ INTERPRO ]
Prosite PS00690 DEAH_ATP_HELICASE [ SRS ] PS00690
DEAH_ATP_HELICASE [ Expasy ]
Prosite PS50967 HRDC [ SRS ] PS50967 HRDC [ Expasy ] Interpro
IPR001410 DEAD [ SRS ] IPR001410 DEAD [ EBI ] Interpro IPR002464
DEAH_box [ SRS ] IPR002464 DEAH_box [ EBI ] Interpro IPR001650
Helicase_C [ SRS ] IPR001650 Helicase_C [ EBI ] Interpro IPR002121
HRDC [ SRS ] IPR002121 HRDC [ EBI ] Interpro IPR004589 RecQ [ SRS ]
IPR004589 RecQ [ EBI ] CluSTr P54132 Pfam PF00270 DEAD [ SRS ]
PF00270 DEAD [ Sanger ] pfam00270 [ NCBI-CDD ]
Pfam PF00271 Helicase_C [ SRS ] PF00271 Helicase_C [ Sanger ]
pfam00271 [ NCBI-CDD ]
Pfam PF00570 HRDC [ SRS ] PF00570 HRDC [ Sanger ] pfam00570 [
NCBI-CDD ] Blocks P54132
Polymorphism : SNP, mutations, diseases OMIM 604610 [ map ]
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 40 -
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GENECLINICS 604610 SNP BLM [dbSNP-NCBI] SNP NM_000057 [SNP-NCI]
SNP BLM [GeneSNPs - Utah] BLM [SNP - CSHL] BLM] [HGBASE - SRS]
General knowledge Family Browser BLM [UCSC Family Browser]
SOURCE NM_000057 SMD Hs.169348 SAGE Hs.169348 Enzyme 3.6.1.- [
Enzyme-SRS ] 3.6.1.- [ Brenda-SRS ] 3.6.1.- [ KEGG ] 3.6.1.- [ WIT
] Amigo function|ATP binding Amigo function|ATP-dependent DNA
helicase activity Amigo function|DNA binding Amigo process|DNA
recombination Amigo process|DNA repair Amigo process|DNA
replication Amigo process|antimicrobial humoral response (sensu
Vertebrata) Amigo function|hydrolase activity Amigo
component|nucleus PubGene BLM
Other databases Probes
Probe BLM Related clones (RZPD - Berlin) PubMed
PubMed 32 Pubmed reference(s) in LocusLink
BibliographyCloning and characterization of RECQL, a potential
human homologue of the Escherichia coli DNA helicase RecQPuranam
KL, and Blackshear PJ. J Biol Chem 1994; 269: 29838-29845. Medline
95050841 Molecular cloning of cDNA encoding human DNA helicase Q1
which has homology to Escherichia coli RecQ helicase and
localization of the gene at chromosome 12p12.Seki M, Miyazawa H,
Tada S, Yanagisawa J, Yamaoka T, Hoshino SI, Ozawa K, Eki T, Nogami
M, Okumura K, Taguchi H, Hanaoka F, Enomoto T.
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 41 -
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Nucl Acids Res 1994; 22: 4566-4573. Medline 95075633 The Bloom's
syndrome gene product is homologous to RecQ helicases.Ellis NA,
Groden J, Ye TZ, Straughen J, Lennon DJ, Ciocci S, Proytcheva M,
German J. Cell 1995; 83: 655-666 Medline 96069866 Positional
cloning of the Werner's syndrome gene.Yu CE, Oshima J, Fu YH,
Wijsman EM, Hisama F, Alish R, Matthews S, Nakura J, Miki T, Ouais
S, Martin GM, Mulligan J, Schellenberg GD. Science 1996; 272,
258-262. Medline 96181115 Molecular genetics of Bloom's
syndrome.Ellis NA, German J Hum Mol Genet 1996; 5 Spec
No:1457-1463. Medline 97029240 Characterization of a new BLM
mutation associated with a topoisomerase II alpha defect in a
patient with Bloom's syndromeFoucault F, Vaury C, Barakat A,
Thibout D, Planchon P, Jaulin C, Praz F, Amor-Gueret M. Hum Mol
Genet 1997 ; 6: 1427-1434. Medline 97449163 BLM (the causative gene
of Bloom syndrome) protein translocation into the nucleus by a
nuclear localization signal.Kaneko H, Orii KO, Matsui E, Shimozawa
N, Fukao T, Matsumoto T, Shimamoto A, Furuichi Y, Hayakawa S,
Kasahara K, Kondo N. Biochem Biophys Res Commun 1997; 240: 348-353.
Medline 98049834 The Bloom's syndrome gene product is a 3'-5' DNA
helicase.Karow JK, Chakraverty RK, Hickson ID. J Biol Chem 1997;
272 : 30611-30614. Medline 98049515 Cloning of two new human
helicase genes of the RecQ family: Biological significance of
multiple species in higher eukaryotes.Kitao S, Ohsugi I, Ichikawa
K, Goto M, Furuichi Y, Shimamoto A. Genomics 1998 ; 54 : 443-452.
Medline 99097344
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 42 -
-
The Bloom's syndrome helicase unwinds G4 DNA.Sun H, Karow JK,
Hickson ID, Maizels N. J Biol Chem 1998; 273: 27587-27592. Medline
9765292 PML is critical for ND10 formation and recruits the
PML-interacting protein daxx to this nuclear structure when
modified by SUMO-1.Ishov AM, Sotnikov AG, Negorev D, Vladimirova
OV, Neff N, Kamitani T, Yeh ET, Strauss JF 3rd, Maul GG. J Cell
Biol 1999; 147 : 221-234. Medline 10525530 Nuclear structure in
normal and Bloom syndrome cells.Yankiwski V, Marciniak RA, Guarente
L, Neff NF. Proc Natl Acad Sci U S A. 2000; 97: 5214-5219. Medline
10779560 Rothmund-Thomson syndrome due to RECQ4 helicase mutations:
report and clinical and molecular comparisons with Bloom syndrome
and Werner syndrome.Lindor NM, Furuichi Y, Kitao S, Shimamoto A,
Arndt C, Jalal S. Am J Med Genet; 2000; 90: 223-228. Medline
20142127 Cell cycle regulation of the endogenous wild type Bloom's
syndrome DNA helicase.Dutertre S, Ababou M, Onclercq R, Delic J,
Chatton B, Jaulin C, Amor-Gueret M. Oncogene 2000; 19: 2731-2738.
Medline 20309931 Identification of a novel BLM missense mutation
(2706T>C) in a moroccan patient with Bloom's syndrome.Barakat A,
Ababou M, Onclercq R, Dutertre S, Chadli E, Hda N, Benslimane A,
Amor-Gueret M. Hum Mutat 2000; 6: 584-585. Medline 20321320 Binding
and melting of D-loops by the Bloom syndrome helicase.van Brabant
AJ, Ye T, Sanz M, German III JL, Ellis NA, Holloman WK.
Biochemistry 2000; 39: 14617-14625. Medline 11087418 ATM-dependent
phosphorylation and accumulation of endogenous BLM protein in
response to ionizing radiation.
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 43 -
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Ababou M, Dutertre S, Lecluse Y, Onclercq R, Chatton B,
Amor-Gueret M. Oncogene 2000; 19 : 5955-5963. Medline 11146546 The
Bloom's syndrome gene product promotes branch migration of holliday
junctions.Karow JK, Constantinou A, Li JL, West SC, Hickson ID.
Proc Natl Acad Sci USA. 2000; 97: 6504-6508. Medline 20300930 BASC,
a super complex of BRCA1-associated proteins involved in the
recognition and repair of aberrant DNA structures.Wang Y, Cortez D,
Yazdi P, Neff N, Elledge SJ, Qin J. Genes Dev 2000; 14: 927-939.
Medline 20245492 The Bloom's and Werner's syndrome proteins are DNA
structure-specific helicases.Mohaghegh P, Karow JK, Brosh Jr RM Jr,
Bohr VA, Hickson ID. Nucleic Acids Res 2001; 29: 2843-2849. Medline
11433031 The Bloom's syndrome protein (BLM) interacts with MLH1 but
is not required for DNA mismatch repair.Langland G, Kordich J,
Creaney J, Goss KH, Lillard-Wetherell K, Bebenek K, Kunkel TA,
Groden J. J Biol Chem 2001; 276 : 30031-30035. Medline 11325959
Direct association of Bloom's syndrome gene product with the human
mismatch repair protein MLH1.Pedrazzi G, Perrera C, Blaser H,
Kuster P, Marra G, Davies SL, Ryu GH, Freire R, Hickson ID, Jiricny
J, Stagljar I. Nucleic Acids Res 2001; 29 : 4378-4386. Medline
11691925 The Bloom syndrome protein interacts and cooperates with
p53 in regulation of transcription and cell growth
control.Garkavtsev IV, Kley N, Grigorian IA, Gudkov AV. Oncogene
2001; 20: 8276-8280. Medline 11781842 Functional interaction of p53
and BLM DNA helicase in apoptosis.Wang XW, Tseng A, Ellis NA,
Spillare EA, Linke SP, Robles AI, Seker H, Yang Q, Hu P, Beresten
S, Bemmels NA, Garfield S, Harris CC.
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 44 -
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J Biol Chem 2001; 276: 32948-32955. Medline 11399766 Potential
role for the BLM helicase in recombinational repair via a conserved
interaction with RAD51.Wu L, Davies SL, Levitt NC, Hickson ID. J
Biol Chem 2001; 276: 19375-19381. Medline 11278509 Regulation and
localization of the Bloom syndrome protein in response to DNA
damage.Bischof O, Kim SH, Irving J, Beresten S, Ellis NA, Campisi
J. J Cell Biol 2001; 153: 367-380. Medline 11309417 The processing
of Holliday junctions by BLM and WRN helicases is regulated by
p53.Yang Q, Zhang R, Wang XW, Spillare EA, Linke SP, Subramanian D,
Griffith JD, Li JL, Hickson ID, Shen JC, Loeb LA, Mazur SJ, Appella
E, Brosh RM Jr, Karmakar P, Bohr VA, Harris CC. J Biol Chem 2002;
277: 31980-31987. Medline 12080066 Bloom's syndrome protein
response to ultraviolet-C radiation and hydroxyurea-mediated DNA
synthesis inhibition.Ababou M, Dumaire V, Lecluse Y, Amor-Gueret M.
Oncogene 2002; 21: 2079-2088. Medline 11960380 Colocalization,
physical, and functional interaction between Werner and Bloom
syndrome proteins.von Kobbe C, Karmakar P, Dawut L, Opresko P, Zeng
X, Brosh RM Jr, Hickson ID, Bohr VA. J Biol Chem 2002; 277:
22035-22044. Medline 11919194 The Bloom syndrome helicase BLM
interacts with TRF2 in ALT cells and promotes telomeric DNA
synthesis.Stavropoulos DJ, Bradshaw PS, Li X, Pasic I, Truong K,
Ikura M, Ungrin M, Meyn MS. Hum Mol Genet 2002; 11: 3135-3144.
Medline 12444098 Telomere-binding protein TRF2 binds to and
stimulates the Werner and Bloom syndrome helicases.Opresko PL, von
Kobbe C, Laine JP, Harrigan J, Hickson ID, Bohr VA. J Biol Chem
2002; 277: 41110-41119.
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 45 -
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Medline 12181313 The BLM helicase is necessary for normal DNA
double-strand break repair.Langland G, Elliott J, Li Y, Creaney J,
Dixon K, Groden J. Cancer Res 2002; 62: 2766-2770. Medline 12019152
Increased error-prone non homologous DNA end-joining--a proposed
mechanism of chromosomal instability in Bloom's syndrome.Gaymes TJ,
North PS, Brady N, Hickson ID, Mufti GJ, Rassool FV. Oncogene 2002;
21: 2525-2533. Medline 11971187 Dephosphorylation and subcellular
compartment change of the mitotic Bloom's syndrome DNA helicase in
response to ionizing radiation.Dutertre S, Sekhri R, Tintignac LA,
Onclercq-Delic R, Chatton B, Jaulin C, Amor-Gueret M. J Biol Chem
2002; 277 : 6280-6286. Medline 11741924 A multiprotein nuclear
complex connects Fanconi anemia and Bloom syndrome.Meetei AR, Sechi
S, Wallisch M, Yang D, Young MK, Joenje H, Hoatlin ME, Wang W. Mol
Cell Biol 2003; 23: 3417-2346. Medline 12724401 BLM
helicase-dependent transport of p53 to sites of stalled DNA
replication forks modulates homologous recombination.Sengupta S,
Linke SP, Pedeux R, Yang Q, Farnsworth J, Garfield SH, Valerie K,
Shay JW, Ellis NA, Wasylyk B, Harris CC. EMBO J 2003; 22:
1210-1222. Medline 12606585 Possible anti-recombinogenic role of
Bloom's syndrome helicase in double-strand break
processing.Onclercq-Delic R, Calsou P, Delteil C, Salles B,
Papadopoulo D, Amor-Gueret M. Nucleic Acids Res 2003; 31:
6272-6782. Medline 14576316 Telomere and ribosomal DNA repeats are
chromosomal targets of the bloom syndrome DNA helicase.Schawalder
J, Paric E, Neff NF. BMC Cell Biol 2003; 4:15. Medline 14577841
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 46 -
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Relatively common mutations of the Bloom syndrome gene in the
Japanese population.Kaneko H, Isogai K, Fukao T, Matsui E, Kasahara
K, Yachie A, Seki H, Koizumi S, Arai M, Utunomiya J, Miki Y, Kondo
N. Int J Mol Med 2004; 14: 439-442. Medline 15289897 Physical and
functional interaction between the Bloom's syndrome gene product
and the largest subunit of chromatin assembly factor 1.Jiao R,
Bachrati CZ, Pedrazzi G, Kuster P, Petkovic M, Li JL, Egli D,
Hickson ID, Stagljar I. Mol Cell Biol 2004; 24: 4710-4719. Medline
15143166 Functional interaction between BLM helicase and 53BP1 in a
Chk1-mediated pathway during S-phase arrest.Sengupta S, Robles AI,
Linke SP, Sinogeeva NI, Zhang R, Pedeux R, Ward IM, Celeste A,
Nussenzweig A, Chen J, Halazonetis TD, Harris CC. J Cell Biol 2004;
166: 801-813. Medline 15364958 Human bloom protein stimulates flap
endonuclease 1 activity by resolving DNA secondary structure.Wang
W, Bambara RA. J Biol Chem 2004 Dec 4 (in press) Medline 15579905
Genetic interactions between BLM and DNA ligase IV in human
cells.So S, Adachi N, Lieber MR, Koyama H. J Biol Chem 2004; 279:
55433-55442. Medline 15509577 A major role for mitotic CDC2 kinase
inactivation in the establishment of the mitotic DNA damage
checkpoint.Bayart E, Grigorieva O, Leibovitch S, Onclercq-Delic R,
Amor-Gueret M. Cancer Res 2004; 64: 8954-8959. Medline 15604258 BLM
helicase facilitates Mus81 endonuclease activity in human
cells.Zhang R, Sengupta S, Yang Q, Linke SP, Yanaihara N, Bradsher
J, Blais V, McGowan CH, Harris CC. Cancer Res 2005 ; 65: 2526-2531.
Medline 15805243 RECQ family members combine strand pairing and
unwinding activities to catalyze strand
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 47 -
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exchange.Machwe A, Xiao L, Groden J, Matson SW, Orren DK. J Biol
Chem 2005 (in press) REVIEW articles automatic search in PubMed
Last year publications automatic search in PubMed
BiblioGene - INIST
Contributor(s)Written 02-1998 Jean-Loup Huret Updated 09-2000
Mounira Amor-Guéret Updated 05-2005 Mounira Amor-Guéret
CitationThis paper should be referenced as such : Huret JL . BLM
(Bloom). Atlas Genet Cytogenet Oncol Haematol. February 1998 . URL
: http://www.infobiogen.fr/services/chromcancer/Genes/BLM109.html
Amor-Guéret M . BLM (Bloom). Atlas Genet Cytogenet Oncol Haematol.
September 2000 . URL :
http://www.infobiogen.fr/services/chromcancer/Genes/BLM109.html
Amor-Guéret M . BLM (Bloom). Atlas Genet Cytogenet Oncol Haematol.
May 2005 . URL :
http://www.infobiogen.fr/services/chromcancer/Genes/BLM109.html
© Atlas of Genetics and Cytogenetics in Oncology and
Haematology
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 48 -
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Atlas of Genetics and Cytogenetics in Oncology and
Haematology
TRIP11 (thyroid hormone receptor interactor 11)
IdentityOther names CEV14 (clonal evolution related gene on
chromosome 14) Hugo CEV14 Location 14q32
DNA/RNATranscription major transcripts: 7, 9 and 10.5 kb; coding
sequence: 2.2 kb
Protein
Description 729 amino acids; contains a N-term leucine zipper
and a C-term putative thyroid hormone receptor interacting
domain
Expression is wide; high expression in heart, muscle, pancreas;
found expressed in hematopoietic cell lines
Function may be a transcriptional factor
Implicated inEntity t(5;14)(q33;q32)/ANLL --> CEV14 - PDGFRb
Disease poorly known: 1 case of ANLL Cytogenetics found as an
additional anomaly Hybrid/Mutated Gene 5' CEV14 - 3' PDGFRb
Abnormal Protein
leucine zipper from CEV14 fused to the transmembrane domain and
the Tyr kinase domain of PDGFRb
External links Nomenclature
Hugo CEV14 GDB TRIP11 Entrez_Gene TRIP11 9321 thyroid hormone
receptor interactor 11
Cards Atlas CEV14
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 49 -
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GeneCards TRIP11 Ensembl TRIP11 CancerGene TRIP11 Genatlas
TRIP11 GeneLynx TRIP11 eGenome TRIP11 euGene 9321
Genomic and cartography GoldenPath TRIP11 - 14q32
chr14:91505614-91576139 - 14q32.12 (hg17-May_2004) Ensembl TRIP11 -
14q32.12 [CytoView] NCBI Genes Cyto Gene Seq [Map View - NCBI] OMIM
Disease map [OMIM] HomoloGene TRIP11
Gene and transcription Genbank AF007217 [ SRS ] AF007217 [
ENTREZ ] Genbank AF011368 [ SRS ] AF011368 [ ENTREZ ] Genbank
BC002656 [ SRS ] BC002656 [ ENTREZ ] Genbank BX641024 [ SRS ]
BX641024 [ ENTREZ ] Genbank L40380 [ SRS ] L40380 [ ENTREZ ] RefSeq
NM_004239 [ SRS ] NM_004239 [ ENTREZ ] RefSeq NT_086807 [ SRS ]
NT_086807 [ ENTREZ ] AceView TRIP11 AceView - NCBI TRASER TRIP11
Traser - Stanford Unigene Hs.546327 [ SRS ] Hs.546327 [ NCBI ]
HS546327 [ spliceNest ]
Protein : pattern, domain, 3D structure SwissProt Q15643 [ SRS]
Q15643 [ EXPASY ] Q15643 [ INTERPRO ] Prosite PS50913 GRIP [ SRS ]
PS50913 GRIP [ Expasy ] Interpro IPR000237 GRIP [ SRS ] IPR000237
GRIP [ EBI ] CluSTr Q15643 Blocks Q15643
Polymorphism : SNP, mutations, diseases OMIM 604505 [ map ]
GENECLINICS 604505 SNP TRIP11 [dbSNP-NCBI] SNP NM_004239
[SNP-NCI]
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 50 -
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SNP TRIP11 [GeneSNPs - Utah] TRIP11 [SNP - CSHL] TRIP11] [HGBASE
- SRS] General knowledge
Family Browser TRIP11 [UCSC Family Browser] SOURCE NM_004239 SMD
Hs.546327 SAGE Hs.546327 Amigo component|Golgi apparatus Amigo
function|protein binding Amigo function|transcription coactivator
activity Amigo process|transcription from Pol II promoter PubGene
TRIP11
Other databases Probes
Probe CEV14 Related clones (RZPD - Berlin) PubMed
PubMed 6 Pubmed reference(s) in LocusLink
BibliographyFusion of the platelet-derived growth factor
receptor beta to a novel gene CEV14 in acute myelogenous leukemia
after clonal evolution.Abe A, Emi N, Tanimoto M, Terasaki H,
Marunouchi T, Saito H Blood 1997 Dec 1;90(11):4271-7 Medline
98043615 REVIEW articles automatic search in PubMed Last year
publications automatic search in PubMed
BiblioGene - INIST
Contributor(s)Written 02-1998 Jean-Loup Huret
CitationThis paper should be referenced as such : Huret JL .
TRIP11 (thyroid hormone receptor interactor 11). Atlas Genet
Cytogenet Oncol Haematol. February 1998 . URL :
http://www.infobiogen.fr/services/chromcancer/Genes/CEV14.html
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 51 -
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© Atlas of Genetics and Cytogenetics in Oncology and
Haematology
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 52 -
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Atlas of Genetics and Cytogenetics in Oncology and
Haematology
FACC (Fanconi anaemia complementation group C) (updated: old
version not available)
IdentityOther names FAC Hugo FANCC Location 9q22.3 next to PTCH
and XPAC !!
DNA/RNADescription 14 exons; spans 80 kb Transcription mRNA of
2.3, 3.2, and 4.6 kb (alternative splicing in 5Õ, variable 3'
untranslated
region, exon 13 skipping)
Protein
Description 558 amino acids; 63 kDa Expression wide, in
particular in the bones; high expression in proliferating cells,
low in
differentiated cells Localisation cytoplasmic (mostly) and
nuclear Function • part of the FA complex with FANCA, FANCE, FANCF,
and FANCG; this
complex is only found in the nucleus. • FANCA and FANCG form a
complex in the cytoplasm, through a N-term FANCA (involving the
nuclear localization signal) - FANCG interaction; FANCC join the
complex; phosphorylation of FANCA would induce its translocation
into the nucleus.This FA complex translocates into the nucleus,
where FANCE and FANCF are present; FANCE and FANCF join the
complex. The FA complex subsequently interacts with FANCD2 by
monoubiquitination of FANCD2 during S phase or following DNA
damage. Activated (ubiquinated ) FANCD2, downstream in the FA
pathway, will then interact with other proteins involved in DNA
repair, possibly BRCA1; after DNA repair, FANCD2 return to the
non-ubiquinated form. • FANCC may have mutlifunctional roles, in
addition to its involvement in the FA pathway. FANCC binds to cdc2
(mitotic cyclin-dependent kinase), STAT1, GRP94 (a chaperon
protein), NADPH, and a number of other proteins; involved in DNA
repair and in suppressing interferon gamma induced cellular
apoptosis
Homology no known homology
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 53 -
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MutationsGerminal most mutations are found in exon1, intron 4,
and exon 14
Implicated inEntity Fanconi anaemia (FA); FACC is implicated in
the FA complementation group C;
it represents about 15% of FA cases Disease Fanconi anaemia is a
chromosome instability syndrome/cancer prone disease (at
risk of leukaemia) Prognosis • Fanconi anaemia's prognosis is
poor; mean survival is 16 years: patients die of
bone marrow failure (infections, haemorrhages), leukaemia, or
androgen therapy related liver tumours • It has recently been shown
that significant phenotypic differences were found between the
various complementation groups. FA group C patients had less
somatic abnormalities. However, there is a certain clinical
heterogeneity.
Cytogenetics spontaneous,chromatid/chromosome breaks; increased
rate of breaks compared to control, when induced by breaking
agent
External links Nomenclature
Hugo FANCC GDB FANCC Entrez_Gene FANCC 2176 Fanconi anemia,
complementation group C
Cards Atlas FACC101 GeneCards FANCC Ensembl FANCC CancerGene
FANCC Genatlas FANCC GeneLynx FANCC eGenome FANCC euGene 2176
Genomic and cartography GoldenPath FANCC - 9q22.3
chr9:94940891-95159546 - 9q22.32 (hg17-May_2004) Ensembl FANCC -
9q22.32 [CytoView] NCBI Genes Cyto Gene Seq [Map View - NCBI] OMIM
Disease map [OMIM] HomoloGene FANCC
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 54 -
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Gene and transcription Genbank AL354893 [ SRS ] AL354893 [
ENTREZ ] Genbank AY220878 [ SRS ] AY220878 [ ENTREZ ] Genbank
L02664 [ SRS ] L02664 [ ENTREZ ] Genbank BC006303 [ SRS ] BC006303
[ ENTREZ ] Genbank BC015748 [ SRS ] BC015748 [ ENTREZ ] RefSeq
NM_000136 [ SRS ] NM_000136 [ ENTREZ ] RefSeq NT_086752 [ SRS ]
NT_086752 [ ENTREZ ] AceView FANCC AceView - NCBI TRASER FANCC
Traser - Stanford Unigene Hs.494529 [ SRS ] Hs.494529 [ NCBI ]
HS494529 [ spliceNest ]
Protein : pattern, domain, 3D structure SwissProt Q00597 [ SRS]
Q00597 [ EXPASY ] Q00597 [ INTERPRO ] Interpro IPR000686 Fanconi [
SRS ] IPR000686 Fanconi [ EBI ] CluSTr Q00597 Pfam PF02106
Fanconi_C [ SRS ] PF02106 Fanconi_C [ Sanger ] pfam02106 [ NCBI-CDD
]Blocks Q00597
Polymorphism : SNP, mutations, diseases OMIM 227645 [ map ]
GENECLINICS 227645 SNP FANCC [dbSNP-NCBI] SNP NM_000136 [SNP-NCI]
SNP FANCC [GeneSNPs - Utah] FANCC [SNP - CSHL] FANCC] [HGBASE -
SRS]
General knowledge Family Browser FANCC [UCSC Family Browser]
SOURCE NM_000136 SMD Hs.494529 SAGE Hs.494529 Amigo process|DNA
repair Amigo component|cytoplasm Amigo component|nucleus Amigo
process|protein complex assembly BIOCARTA Role of BRCA1, BRCA2 and
ATR in Cancer Susceptibility BIOCARTA BRCA1-dependent Ub-ligase
activity PubGene FANCC
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Other databases Other database Fanconi Anemia Mutation
Database
Probes Probe Cancer Cytogenetics (Bari) Probe FANCC Related
clones (RZPD - Berlin)
PubMed PubMed 12 Pubmed reference(s) in LocusLink
BibliographyCloning of cDNAs for Fanconi's anaemia by functional
complementation.Strathdee CA, Gavish H, Shannon WR, Buchwald M
Nature 1992; 356: 763-767. Medline 92244337 Characterisation of the
exon structure of the Fanconi anaemia group C gene by vectorette
PCR.Gibson RA, Buchwald M, Roberts RG, Mathew CG Hum Mol Genet
1993; 2: 35-38. Medline 93258346 Molecular biology of Fanconi
anemia: implications for diagnosis and therapyD'Andrea AD, Grompe M
Blood 1997;90(5):1725-36 Medline 97436532 Fanconi anemia proteins
FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear
complex.Garcia-Higuera I, Kuang Y, Naf D, Wasik J, D'Andrea AD. Mol
Cell Biol 1999;19(7):4866-73 Medline 10373536 Association of
complementation group and mutation type with clinical outcome in
fanconi anemia. European Fanconi Anemia Research Group.Faivre L,
Guardiola P, Lewis C, Dokal I, Ebell W, Zatterale A, Altay C, Poole
J, Stones D, Kwee ML, van Weel-Sipman M, Havenga C, Morgan N, de
Winter J, Digweed M, Savoia A, Pronk J, de Ravel T, Jansen S,
Joenje H, Gluckman E, Mathew CG. Blood 2000;96(13):4064-70 Medline
11110674 Interaction of the Fanconi anemia proteins and BRCA1 in a
common pathway.Garcia-Higuera I, Taniguchi T, Ganesan S, Meyn MS,
Timmers C, Hejna J, Grompe M, D'Andrea AD.
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 56 -
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Mol Cell 2001;7(2):249-62 Medline 11239454 Fanconi anemia and
DNA repair.Grompe M, D'Andrea A. Hum Mol Genet 2001;10(20):2253-9
Medline 11673408 The fanconi anemia complementation group C gene
product : structural evidence of multifunctionalityQishen P,
Christianson TA, Keeble W, Diaz J, Faulkner GR, Reifsteck C, Olson
S, Baby GC. Blood 2001; 98(5): 1392-1401 Direct interactions of the
five known Fanconi anaemia proteins suggest a common functional
pathway.Medhurst AL, Huber PA, Waisfisz Q, de Winter JP, Mathew CG
Hum Mol Genet 2001;10(4):423-9 Medline 11157805 Fanconi anemia
proteins localize to chromatin and the nuclear matrix in a DNA
damage- and cell cycle-regulated manner.Qiao F, Moss A, Kupfer GM.
J Biol Chem 2001;276(26):23391-6 Medline 11297559 Current knowledge
on the pathophysiology of Fanconi anemia: from genes to
phenotypes.Yamashita T, Nakahata T. Int J Hematol 2001;74(1):33-41
Medline 11530803 Breaks at telomeres and TRF2-independent end
fusions in Fanconi anemia.Callen E, Samper E, Ramirez MJ, Creus A,
Ortega JJ, Olive T, Badell I, Blasco MA, Surralles J. Hum Mol Genet
2002; 11(4): 439-444. Medline 11854176 REVIEW articles automatic
search in PubMed Last year publications automatic search in
PubMed
BiblioGene - INIST
Contributor(s)Written 02-1998 Jean-Loup Huret
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 57 -
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Updated 06-2002 Jean-Loup Huret
CitationThis paper should be referenced as such : Huret JL .
FACC (Fanconi anaemia complementation group C). Atlas Genet
Cytogenet Oncol Haematol. February 1998 . URL :
http://www.infobiogen.fr/services/chromcancer/Genes/FACC101.html
Huret JL . FACC (Fanconi anaemia complementation group C). Atlas
Genet Cytogenet Oncol Haematol. June 2002 . URL :
http://www.infobiogen.fr/services/chromcancer/Genes/FACC101.html
© Atlas of Genetics and Cytogenetics in Oncology and
Haematology
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 58 -
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Atlas of Genetics and Cytogenetics in Oncology and
Haematology
FGFR3 (Fibroblast Growth Factor Receptor 3)
IdentityHugo FGFR3 Location 4p16.3 centromere - IT 15 - FGFR 3 -
IDUA - MYL 5 - ZNF 141 - telomere
DNA/RNA
c-FGFR3 (4p16.3) in normal cells: PAC 1054L13 (above) and PAC
1174P18 (below) - Courtesy
Mariano Rocchi, Resources for Molecular Cytogenetics.
Laboratories willing to validate the probes are wellcome: contact M
Rocchi
Description 16.5 Kb; 19 exons; exon 1 unknown in human
Transcription 4.0 Kb mRNA; large 3' untranslated region (1.4 kb);
alternative splicing of exons
7 and 8 gives rise to two isoforms IIIb and IIIc
Protein
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 59 -
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Protein Diagram
Description 806 amino acids; 115 kDa; tyrosine kinase receptor;
contains three major domains: an extracellular domain with 3
Ig-like loops, a highly hydrophobic transmembrane domain (22 amino
acids) and an intracellular domain with tyrosine kinase
activity
Expression mostly in brain, cartilage, liver, inner ear, kidney
Localisation plasma membrane Function FGF receptor with tyrosine
kinase activity; binding of ligand (FGF) induces
receptor dimerization, autophosphorylation and signal
transduction Homology with other FGFR (1, 2 and 4); Cek 2 in
chicken
Implicated inEntity t(4;14)(p16.3;q32.3)/multiple myeloma -->
FGFR3 -IgH Disease plasma cell leukaemia and multiple myeloma
Prognosis unknown: found in 11 cases, but with no data on clinics
Abnormal Protein no fusion protein, but promoter exchange between
both partner genes
Oncogenesis overexpression and activation of FGFR 3 provides an
oncogenic signal Entity squeletal dysplasia (inborn diseases)
Disease hypochondroplasia, achondroplasia, thanatophoric dwarfism
(TD I and II),
Crouzon syndrome with acanthosis nigricans and coronal
craniosynostosis; endochondral and membranous ossification defects
are caused by recurrent missense mutations
Breakpoints
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Note Chromosome 4 breakpoints are clustured in a 50-70 kb region
centromeric to
FGFR 3
External links Nomenclature
Hugo FGFR3 GDB FGFR3
Entrez_Gene FGFR3 2261 fibroblast growth factor receptor 3
(achondroplasia, thanatophoric dwarfism) Cards
Atlas FGFR99 GeneCards FGFR3 Ensembl FGFR3 CancerGene FGFR3
Genatlas FGFR3 GeneLynx FGFR3 eGenome FGFR3 euGene 2261
Genomic and cartography GoldenPath FGFR3 - 4p16.3
chr4:1762854-1777829 + 4p16.3 (hg17-May_2004) Ensembl FGFR3 -
4p16.3 [CytoView] NCBI Genes Cyto Gene Seq [Map View - NCBI] OMIM
Disease map [OMIM] HomoloGene FGFR3
Gene and transcription
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 61 -
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Genbank AF487554 [ SRS ] AF487554 [ ENTREZ ] Genbank S76733 [
SRS ] S76733 [ ENTREZ ] Genbank U22410 [ SRS ] U22410 [ ENTREZ ]
Genbank AF238374 [ SRS ] AF238374 [ ENTREZ ] Genbank AF245114 [ SRS
] AF245114 [ ENTREZ ] RefSeq NM_000142 [ SRS ] NM_000142 [ ENTREZ ]
RefSeq NM_022965 [ SRS ] NM_022965 [ ENTREZ ] RefSeq NT_086649 [
SRS ] NT_086649 [ ENTREZ ] AceView FGFR3 AceView - NCBI TRASER
FGFR3 Traser - Stanford Unigene Hs.1420 [ SRS ] Hs.1420 [ NCBI ]
HS1420 [ spliceNest ]
Protein : pattern, domain, 3D structure SwissProt P22607 [ SRS]
P22607 [ EXPASY ] P22607 [ INTERPRO ] Prosite PS50835 IG_LIKE [ SRS
] PS50835 IG_LIKE [ Expasy ]
Prosite PS00107 PROTEIN_KINASE_ATP [ SRS ] PS00107
PROTEIN_KINASE_ATP [ Expasy ]
Prosite PS50011 PROTEIN_KINASE_DOM [ SRS ] PS50011
PROTEIN_KINASE_DOM [ Expasy ]
Prosite PS00109 PROTEIN_KINASE_TYR [ SRS ] PS00109
PROTEIN_KINASE_TYR [ Expasy ] Interpro IPR007110 Ig-like [ SRS ]
IPR007110 Ig-like [ EBI ] Interpro IPR011009 Kinase_like [ SRS ]
IPR011009 Kinase_like [ EBI ] Interpro IPR000719 Prot_kinase [ SRS
] IPR000719 Prot_kinase [ EBI ] Interpro IPR001245 Tyr_pkinase [
SRS ] IPR001245 Tyr_pkinase [ EBI ] Interpro IPR008266
Tyr_pkinase_AS [ SRS ] IPR008266 Tyr_pkinase_AS [ EBI ] CluSTr
P22607 Pfam PF00047 ig [ SRS ] PF00047 ig [ Sanger ] pfam00047 [
NCBI-CDD ] Pfam PF00069 Pkinase [ SRS ] PF00069 Pkinase [ Sanger ]
pfam00069 [ NCBI-CDD ] Prodom PD000001
Prot_kinase[INRA-Toulouse]
Prodom P22607 FGR3_HUMAN [ Domain structure ] P22607 FGR3_HUMAN
[ sequences sharing at least 1 domain ]
Blocks P22607 PDB 1RY7 [ SRS ] 1RY7 [ PdbSum ], 1RY7 [ IMB ]
Polymorphism : SNP, mutations, diseases OMIM 134934 [ map ]
GENECLINICS 134934
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 62 -
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SNP FGFR3 [dbSNP-NCBI] SNP NM_000142 [SNP-NCI] SNP NM_022965
[SNP-NCI] SNP FGFR3 [GeneSNPs - Utah] FGFR3 [SNP - CSHL] FGFR3]
[HGBASE - SRS]
General knowledge Family Browser FGFR3 [UCSC Family Browser]
SOURCE NM_000142 SOURCE NM_022965 SMD Hs.1420 SAGE Hs.1420 Enzyme
2.7.1.112 [ Enzyme-SRS ] 2.7.1.112 [ Brenda-SRS ] 2.7.1.112 [ KEGG
] 2.7.1.112 [ WIT ] Amigo function|ATP binding Amigo
process|JAK-STAT cascade Amigo process|MAPKKK cascade Amigo
process|cell growth Amigo function|fibroblast growth factor
receptor activity Amigo process|fibroblast growth factor receptor
signaling pathway Amigo component|integral to plasma membrane Amigo
process|protein amino acid phosphorylation Amigo
function|protein-tyrosine kinase activity Amigo function|receptor
activity Amigo process|skeletal development Amigo
function|transferase activity PubGene FGFR3
Other databases Other database Somatic mutation
(COSMIC-CGP-Sanger)
Probes Probe FGFR3 (4p16.3) in normal cells (Bari) Probe FGFR3
Related clones (RZPD - Berlin)
PubMed PubMed 45 Pubmed reference(s) in LocusLink
BibliographyMutations in the gene encoding fibroblast growth
factor receptor-3 in achondroplasia.Rousseau F, Bonaventure J,
Legeai-Mallet L, Pelet A, Rozet JM, Maroteaux P, Le Merrer M,
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 63 -
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Munnich A Nature 1994 Sep 15;371(6494):252-4 Medline 94359611
FGFR activation in skeletal disorders: too much of a good
thing.Webster MK, Donoghue DJ Trends Genet 1997 May;13(5):178-82
Medline 97298558 Frequent translocation t(4;14)(p16.3;q32.3) in
multiple myeloma is associated with increased expression and
activating mutations of fibroblast growth factor receptor 3.Chesi
M, Nardini E, Brents LA, Schrock E, Ried T, Kuehl WM, Bergsagel PL
Nat Genet 1997 Jul;16(3):260-4 Medline 97351509 A novel chromosomal
translocation t(4; 14)(p16.3; q32) in multiple myeloma involves the
fibroblast growth-factor receptor 3 gene.Richelda R, Ronchetti D,
Baldini L, Cro L, Viggiano L, Marzella R, Rocchi M, Otsuki T,
Lombardi L, Maiolo AT, Neri A Blood 1997 Nov 15;90(10):4062-70
Medline 98022801 REVIEW articles automatic search in PubMed Last
year publications automatic search in PubMed
BiblioGene - INIST
Contributor(s)Written 02-1998 Jacky Bonaventure
CitationThis paper should be referenced as such : Bonaventure J
. FGFR3 (Fibroblast Growth Factor Receptor 3). Atlas Genet
Cytogenet Oncol Haematol. February 1998 . URL :
http://www.infobiogen.fr/services/chromcancer/Genes/FGFR99.html
© Atlas of Genetics and Cytogenetics in Oncology and
Haematology
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Atlas of Genetics and Cytogenetics in Oncology and
Haematology
JAK2 (janus kinase 2) (updated: old version not available)
IdentityHugo JAK2 Location 9p24
JAK2 (9p24) - Courtesy Mariano Rocchi, Resources for Molecular
Cytogenetics. Laboratories
willing to validate the probes are welcome : contact
[email protected]
DNA/RNADescription 25 exons spanning roughly 140 kb of genomic
DNA; 5402 bp pre-mRNA; 6
different transcripts, putatively encoding 4 different protein
isoforms
Protein
Description 1132 amino acids; 130,7 kDa; JAK2 contains a central
Src homology 2 (SH2) domain, and two C-terminal domains: a tyrosine
kinase domain JH1 (also termed PTK or TyrKc domain), and a tyrosine
kinase-like domain JH2 (also termed STYKc)
Expression wide Localisation intracellular, possibly membrane
associated Function protein tyrosine kinase of the non-receptor
type that associates with the
intracellular domains of cytokine receptors; JAK2 is the
predominant JAK kinase activated in response to several growth
factors and cytokines such as IL-3, GM-
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 65 -
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CSF and erythropoietin; it has been found to be constitutively
associated with the prolactin receptor and is required for
responses to gamma interferon
Homology JAK2 belongs to the janus kinase subfamily; so far four
mammalian JAKs have been identified (JAK1, JAK2, JAK3, and TYK2);
human JAK2 is > 90% identical to the mouse and the rat JAK2
homologs.
MutationsSomatic A high proportion (> 50%) of patients with
myeloproliferative disorders (MPD;
(polycythemia vera, essential thrombocythemia, idiopathic
myelofibrosis - see below) carry a dominant gain-of-function V617F
mutation in the JH2 kinase-like domain of JAK2. This mutation leads
to deregulation of the kinase activity, and thus to constitutive
tyrosine phosphorylation activity. The incidence of the V617F
mutation in different studies ranges from 65-97% in polycythemia
vera, from 41-57% in patients with essential thrombocythemia, and
from 23-95% in patients with idiopathic myelofibrosis. In MPD the
mutation is heterozygous in most patients and homozygous only in a
minor subset. Mitotic recombination probably causes both 9p LOH and
the transition from heterozygosity to homozygosity. The same
mutation was also found in roughly 20% of Ph-negative atypical CML,
in more than 10% of CMML, in about 15% of patients with
megakaryocytic AML (AML M7), and 1/5 patients with juvenile
myelomonocytic leukemia (JMML). The V617F mutation seems to occur
exclusively in hematopietic malignancies of the myeloid
lineage.
Implicated inEntity t(8;9)(p21-22;p24) / acute leukaemias --
> PCM1-JAK2 Disease myeloid and lymphoid malignancies;
predominantly atypical CML, but also
found in (CEL), (secondary) AML, and MDS/MPD; thirteen cases
described to date, all male, except for one childhood female case
with erythroid leukemia with multiple bone tumors
Prognosis highly variable; allogeneic stem cell transplantation
may be the only curative treatment
Hybrid/Mutated Gene
5¹ PCM1 3¹ JAK2; only in some cases the reciprocal 5¹ JAK2 3¹
PCM1 is present
Abnormal Protein
almost the entire PCM1 protein containing multiple coiled-coil
domains is fused to the tyrosine kinase C-terminal domains (JH2 and
JH1) of JAK2
Oncogenesis dimerization or oligomerization of the PCM1-JAK2
chimera through one or more of the coiled-coil motifs of PCM1
probably results in the constitutive activation of the tyrosine
kinase domain of JAK2
Entity t(9;12)(p24;p13) / acute leukaemias --> JAK2/ETV6
Disease myeloid and lymphoid leukemias; only three cases described
to date; one case
each: childhood T-ALL, pre B-ALL, atypical CML Prognosis
unknown
Atlas Genet Cytogenet Oncol Haematol 1998; 2 (1) - 66 -
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Hybrid/Mutated Gene 5' ETV6 - 3' JAK2
Abnormal Protein
in the atypical CML the N-terminal HLH of ETV6 is fused to the
tyrosine kinase C-terminal domains (JH2 and JH1) of JAK2; in the
B-ALL the same ETV6 domain is fused to part of the JH2 and the
complete JH1 domain, and in the T-ALL case to the JH1 domain
Oncogenesis it may be speculated that the HLH domain of ETV6
provides a dimerization interface to the kinase domain of JAK2,
which activates JAK2; ETV6-JAK2 transgenic mice generated using a
T-ALL specific fusion construct - develop fatal CD8+ acute T-cell
leukemia
Entity t(9;22)(p24;q11.2) /MPD-- > JAK2-BCR Disease atypical
CML; only one case described to date Hybrid/Mutated Gene 5