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RAP1GDS1 (RAP1, GTP-GDP dissociation stimulator 1)

Identity

Other namesRAP1
GTP-GDP dissociation stimulator 1
HGNC (Hugo) RAP1GDS1
LocusID (NCBI) 5910
Location 4q23
Location_base_pair Starts at 99182527 and ends at 99365012 bp from pter ( according to hg19-Feb_2009)  [Mapping]

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
HGNC (Hugo)RAP1GDS1   9859
Cards
AtlasRAP1GDS1ID400
Entrez_Gene (NCBI)RAP1GDS1  5910  RAP1, GTP-GDP dissociation stimulator 1
GeneCards (Weizmann)RAP1GDS1
Ensembl (Hinxton)ENSG00000138698 [Gene_View]  chr4:99182527-99365012 [Contig_View]  RAP1GDS1 [Vega]
AceView (NCBI)RAP1GDS1
Genatlas (Paris)RAP1GDS1
WikiGenes5910
SOURCE (Princeton)NM_001100426 NM_001100427 NM_001100428 NM_001100429 NM_001100430 NM_021159
Genomic and cartography
GoldenPath (UCSC)RAP1GDS1  -  4q23   chr4:99182527-99365012 +  4q23-q25   [Description]    (hg19-Feb_2009)
EnsemblRAP1GDS1 - 4q23-q25 [CytoView]
Mapping of homologs : NCBIRAP1GDS1 [Mapview]
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
RefSeq genomic (Entrez)AC_000136 NC_000004 NC_018915 NT_016354 NW_001838915 NW_004929320
Consensus coding sequences : CCDS (NCBI)RAP1GDS1
Cluster EST : UnigeneHs.132858 [ NCBI ]
CGAP (NCI)Hs.132858
Alternative Splicing : Fast-db (Paris)GSHG0022746
Alternative Splicing GalleryENSG00000138698
Gene ExpressionRAP1GDS1 [ NCBI-GEO ]     RAP1GDS1 [ SEEK ]   RAP1GDS1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP52306 (Uniprot)
NextProtP52306  [Medical]
With graphics : InterProP52306
Splice isoforms : SwissVarP52306 (Swissvar)
Domaine pattern : Prosite (Expaxy)ARM_REPEAT (PS50176)   
Domains : Interpro (EBI)ARM-like    ARM-type_fold    Armadillo   
Related proteins : CluSTrP52306
Domain families : Pfam (Sanger)Arm (PF00514)   
Domain families : Pfam (NCBI)pfam00514   
Domain families : Smart (EMBL)ARM (SM00185)  
DMDM Disease mutations5910
Blocks (Seattle)P52306
Human Protein AtlasENSG00000138698
Peptide AtlasP52306
HPRD11763
IPIIPI00607591   IPI00856100   IPI00619924   IPI00424869   IPI00855767   IPI00855727   IPI00968047   IPI00967638   IPI00964475   IPI00967154   IPI00966126   IPI00965229   IPI00967796   IPI00966423   IPI00967339   IPI00964784   IPI00965386   
Protein Interaction databases
DIP (DOE-UCLA)P52306
IntAct (EBI)P52306
FunCoupENSG00000138698
BioGRIDRAP1GDS1
InParanoidP52306
Interologous Interaction database P52306
IntegromeDBRAP1GDS1
STRING (EMBL)RAP1GDS1
Ontologies - Pathways
Ontology : AmiGOGTPase activator activity  cellular_component  biological_process  positive regulation of GTPase activity  
Ontology : EGO-EBIGTPase activator activity  cellular_component  biological_process  positive regulation of GTPase activity  
REACTOMERAP1GDS1
Protein Interaction DatabaseRAP1GDS1
Wikipedia pathwaysRAP1GDS1
Gene fusion - rearrangments
Rearrangement : TICdbNUP98 [11p15.4]  -  RAP1GDS1 [4q23]
Rearrangement : TICdbRAP1GDS1 [4q23]  -  NUP98 [11p15.4]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)RAP1GDS1
SNP (GeneSNP Utah)RAP1GDS1
SNP : HGBaseRAP1GDS1
Genetic variants : HAPMAPRAP1GDS1
1000_GenomesRAP1GDS1 
ICGC programENSG00000138698 
Cancer Gene: CensusRAP1GDS1 
Somatic Mutations in Cancer : COSMICRAP1GDS1 
CONAN: Copy Number AnalysisRAP1GDS1 
Mutations and Diseases : HGMDRAP1GDS1
OMIM179502   
GENETestsRAP1GDS1
Disease Genetic AssociationRAP1GDS1
Huge Navigator RAP1GDS1 [HugePedia]  RAP1GDS1 [HugeCancerGEM]
Genomic VariantsRAP1GDS1  RAP1GDS1 [DGVbeta]
Exome VariantRAP1GDS1
dbVarRAP1GDS1
ClinVarRAP1GDS1
snp3D : Map Gene to Disease5910
General knowledge
Homologs : HomoloGeneRAP1GDS1
Homology/Alignments : Family Browser (UCSC)RAP1GDS1
Phylogenetic Trees/Animal Genes : TreeFamRAP1GDS1
Chemical/Protein Interactions : CTD5910
Chemical/Pharm GKB GenePA34221
Clinical trialRAP1GDS1
Cancer Resource (Charite)ENSG00000138698
Other databases
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
CoreMineRAP1GDS1
iHOPRAP1GDS1

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

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Contributor(s)

Written10-2003Franck Viguié

Citation

This paper should be referenced as such :
Viguié F . RAP1GDS1 (RAP1, GTP-GDP dissociation stimulator 1). Atlas Genet Cytogenet Oncol Haematol. October 2003 .
URL : http://AtlasGeneticsOncology.org/Genes/RAP1GDS1ID400.html

The various updated versions of this paper are referenced and archived by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/38038/1/10-2003-RAP1GDS1ID400.pdf   [ Bibliographic record ]

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indexed on : Fri Apr 18 17:38:43 CEST 2014

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