Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

RAP1GDS1 (RAP1, GTP-GDP dissociation stimulator 1)

Written2003-10Franck Viguié
Laboratoire de Cytogenetique - Service d'Hematologie Biologique, Hopital Hotel-Dieu - 75181 Paris Cedex 04, France

(Note : for Links provided by Atlas : click)

Identity

Alias (NCBI)RAP1
GTP-GDP dissociation stimulator 1
HGNC (Hugo) RAP1GDS1
HGNC Alias symbSmgGDS
HGNC Previous nameRAP1, GTP-GDP dissociation stimulator 1
LocusID (NCBI) 5910
Atlas_Id 400
Location 4q23  [Link to chromosome band 4q23]
Location_base_pair Starts at 98261384 and ends at 98443858 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping RAP1GDS1.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
NUP98 (11p15.4)::RAP1GDS1 (4q23)RAP1GDS1 (4q23)::GSTCD (4q24)RAP1GDS1 (4q23)::KLF5 (13q22.1)
RAP1GDS1 (4q23)::NUP98 (11p15.4)RAP1GDS1 (4q23)::RAP1GDS1 (4q23)UNC5C (4q22.3)::RAP1GDS1 (4q23)

DNA/RNA

Description 181.2 kb - 15 exons
Transcription mRNA 2487 bases

Protein

Description rap1gds, also refered as smgGDS - 61.1 kDa, 558 aa. Contains in major part an armadillo motif, which is composed of tandemly repeated sequences of 43 amino acid residues.
Expression Ubiquitary, high level of expression in central nervous system.
Function Acts as guanine nucleotide exchange factor (GEF). Activates GDP/GTP exchange reaction on numerous small proteins with GTPase activity (G proteins) containing a C-terminal polybasic region (PBR), including Ras and Rho family GTPases such as rap1a, rap1b, K-ras, rac1, rac2, rhoA, ralB. These proteins play a pivotal role in cell proliferation, differentiation and oncogenic transformation.
Homology With other mammalian rap1gds1 proteins.

Implicated in

Note
  
Entity .
Disease T cell acute lymphocytic leukemia.
Cytogenetics Additional anomalies in 2/3 cases.
Hybrid/Mutated Gene Quasi totality of RAP1GDS1 fused with 5' part of NUP98.
Abnormal Protein Chimeric protein 5' -NUP98 - RAP1GDS1 - 3'.
  

Bibliography

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.
PMID 10477737
 
t(4;11)(q21;p15) translocation involving NUP98 and RAP1GDS1 genes: characterization of a new subset of T acute lymphoblastic leukaemia.
Mecucci C, La Starza R, Negrini M, Sabbioni S, Crescenzi B, Leoni P, Di Raimondo F, Krampera M, Cimino G, Tafuri A, Cuneo A, Vitale A, Foá R
British journal of haematology. 2000 ; 109 (4) : 788-793.
PMID 10929031
 
SmgGDS displays differential binding and exchange activity towards different Ras isoforms.
Vikis HG, Stewart S, Guan KL
Oncogene. 2002 ; 21 (15) : 2425-2432.
PMID 11948427
 
Inhibition of adenylate cyclase activity by galanin in rat insulinoma cells is mediated by the G-protein Gi3.
de Mazancourt P, Goldsmith PK, Weinstein LS
The Biochemical journal. 1994 ; 303 ( Pt 2) : 369-375.
PMID 7526840
 

Citation

This paper should be referenced as such :
Viguié, F
RAP1GDS1 (RAP1, GTP-GDP dissociation stimulator 1)
Atlas Genet Cytogenet Oncol Haematol. 2004;8(1):6-6.
Free journal version : [ pdf ]   [ DOI ]


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(4;11)(q21;p15) NUP98::RAP1GDS1
t(4;11)(q23;p15) NUP98::RAP1GDS1
T-lineage acute lymphoblastic leukemia (T-ALL)


External links

Nomenclature
HGNC (Hugo)RAP1GDS1   9859
Cards
AtlasRAP1GDS1ID400
Entrez_Gene (NCBI)RAP1GDS1    Rap1 GTPase-GDP dissociation stimulator 1
AliasesGDS1; SmgGDS
GeneCards (Weizmann)RAP1GDS1
Ensembl hg19 (Hinxton)ENSG00000138698 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000138698 [Gene_View]  ENSG00000138698 [Sequence]  chr4:98261384-98443858 [Contig_View]  RAP1GDS1 [Vega]
ICGC DataPortalENSG00000138698
TCGA cBioPortalRAP1GDS1
AceView (NCBI)RAP1GDS1
Genatlas (Paris)RAP1GDS1
SOURCE (Princeton)RAP1GDS1
Genetics Home Reference (NIH)RAP1GDS1
Genomic and cartography
GoldenPath hg38 (UCSC)RAP1GDS1  -     chr4:98261384-98443858 +  4q23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RAP1GDS1  -     4q23   [Description]    (hg19-Feb_2009)
GoldenPathRAP1GDS1 - 4q23 [CytoView hg19]  RAP1GDS1 - 4q23 [CytoView hg38]
ImmunoBaseENSG00000138698
Genome Data Viewer NCBIRAP1GDS1 [Mapview hg19]  
OMIM179502   
Gene and transcription
Genbank (Entrez)AF215923 AF237413 AI800264 AK055032 AK295156
RefSeq transcript (Entrez)NM_001100426 NM_001100427 NM_001100428 NM_001100429 NM_001100430 NM_021159
Consensus coding sequences : CCDS (NCBI)RAP1GDS1
Gene ExpressionRAP1GDS1 [ NCBI-GEO ]   RAP1GDS1 [ EBI - ARRAY_EXPRESS ]   RAP1GDS1 [ SEEK ]   RAP1GDS1 [ MEM ]
Gene Expression Viewer (FireBrowse)RAP1GDS1 [ Firebrowse - Broad ]
GenevisibleExpression of RAP1GDS1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5910
GTEX Portal (Tissue expression)RAP1GDS1
Human Protein AtlasENSG00000138698-RAP1GDS1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)RAP1GDS1
Human Protein Atlas [tissue]ENSG00000138698-RAP1GDS1 [tissue]
HPRD11763
Protein Interaction databases
BioGRIDRAP1GDS1
STRING (EMBL)RAP1GDS1
ZODIACRAP1GDS1
Ontologies - Pathways
Litterature
PubMed65 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXRAP1GDS1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Oct 8 21:26:33 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.