Atlas of Genetics and Cytogenetics in Oncology and Haematology


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RAP1GDS1

Identity

Other namesRAP1
GTP-GDP dissociation stimulator 1
Hugo RAP1GDS1
Location 4q22.3

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

Entity t(4;11)(q21;p15).
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'.
  

External links

Nomenclature
HugoRAP1GDS1
GDBRAP1GDS1
Entrez_GeneRAP1GDS1  5910  RAP1, GTP-GDP dissociation stimulator 1
Cards
AtlasRAP1GDS1ID400
GeneCardsRAP1GDS1
EnsemblRAP1GDS1 [Search_View]   ENSG00000138698 [Gene_View]
GenatlasRAP1GDS1
GeneLynxRAP1GDS1
eGenomeRAP1GDS1
euGene5910
Genomic and cartography
GoldenPathRAP1GDS1  -  4q22.3   chr4:99401550-99584035 +  4q23-q25    (hg18-Mar_2006)
EnsemblRAP1GDS1 - 4q23-q25 [CytoView]
NCBIMapview
OMIMDisease map [OMIM]
HomoloGeneRAP1GDS1
Gene and transcription
GenbankAF215923 [ ENTREZ ]
GenbankAF237413 [ ENTREZ ]
GenbankAI800264 [ ENTREZ ]
GenbankAK055032 [ ENTREZ ]
GenbankAY376900 [ ENTREZ ]
RefSeqNM_001100426 [ SRS ]    NM_001100426 [ ENTREZ ]
RefSeqNM_001100427 [ SRS ]    NM_001100427 [ ENTREZ ]
RefSeqNM_001100428 [ SRS ]    NM_001100428 [ ENTREZ ]
RefSeqNM_001100429 [ SRS ]    NM_001100429 [ ENTREZ ]
RefSeqNM_001100430 [ SRS ]    NM_001100430 [ ENTREZ ]
RefSeqNM_021159 [ SRS ]    NM_021159 [ ENTREZ ]
RefSeqAC_000047 [ SRS ]    AC_000047 [ ENTREZ ]
RefSeqNC_000004 [ SRS ]    NC_000004 [ ENTREZ ]
RefSeqNT_016354 [ SRS ]    NT_016354 [ ENTREZ ]
RefSeqNW_922162 [ SRS ]    NW_922162 [ ENTREZ ]
AceViewRAP1GDS1 AceView - NCBI
UnigeneHs.132858 [ SRS ]    Hs.132858 [ NCBI ]     HS132858 [ spliceNest ]
Fast-db7688 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtP52306 [ SRS]    P52306 [ EXPASY ]     P52306 [ INTERPRO ]
PrositePS50176 ARM_REPEAT [ SRS ]    PS50176 ARM_REPEAT [ Expasy ]
InterproIPR011989 ARM-like [ SRS ]    IPR011989 ARM-like [ EBI ]
InterproIPR000225 Armadillo [ SRS ]    IPR000225 Armadillo [ EBI ]
CluSTrP52306
PfamPF00514 Arm [ SRS ]    PF00514 Arm [ Sanger ]    pfam00514 [ NCBI-CDD ]
SmartSM00185 ARM [EMBL]
BlocksP52306
HPRD11763
Protein Interaction databases
DIPP52306
IntActP52306
Polymorphism : SNP, mutations, diseases
OMIM179502    [ map ]   
GENECLINICS179502
SNPRAP1GDS1 [dbSNP-NCBI]  
SNPNM_001100426 [SNP-NCI]  
SNPNM_001100427 [SNP-NCI]  
SNPNM_001100428 [SNP-NCI]  
SNPNM_001100429 [SNP-NCI]  
SNPNM_001100430 [SNP-NCI]  
SNPNM_021159 [SNP-NCI]  
SNPRAP1GDS1 [GeneSNPs - Utah]  RAP1GDS1] [HGBASE - SRS]
HAPMAPRAP1GDS1 [HAPMAP]  
COSMICRAP1GDS1 [Somatic mutation (COSMIC-CGP-Sanger)]  
TICdbRAP1GDS1 [Translocation breakpoints In Cancer]  
HGMDRAP1GDS1
General knowledge
Family BrowserRAP1GDS1 [UCSC Family Browser]
SOURCENM_001100426
SOURCENM_001100427
SOURCENM_001100428
SOURCENM_001100429
SOURCENM_001100430
SOURCENM_021159
SMDHs.132858
SAGEHs.132858
GOGTPase activator activity [Amigo]  GTPase activator activity
GObinding [Amigo]  binding
GOcellular_component [Amigo]  cellular_component
GObiological_process [Amigo]  biological_process
PubGeneRAP1GDS1
TreeFamRAP1GDS1
Other databases
Probes
ProbeRAP1GDS1 Related clones (RZPD - Berlin)
PubMed
PubMed9 Pubmed reference(s) in LocusLink

Bibliography

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
 
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, FoˆÝ 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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written10-2003Franck Viguié

Citation

This paper should be referenced as such :
Viguié F . RAP1GDS1. Atlas Genet Cytogenet Oncol Haematol. October 2003 .
URL : http://AtlasGeneticsOncology.org/Genes/RAP1GDS1ID400.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon May 12 18:08:17 2008


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