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RAP1GDS1

Identity

Other namesRAP1
GTP-GDP dissociation stimulator 1
HGNC (Hugo) RAP1GDS1
Location 4q22.3
Location_base_pair Starts at 99401550 and ends at 99584035 bp from pter ( according to hg18-Mar_2006)  [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
Entrez_Gene (NCBI)RAP1GDS1  5910  RAP1, GTP-GDP dissociation stimulator 1
Cards
AtlasRAP1GDS1ID400
GeneCards (Weizmann)RAP1GDS1
Ensembl (Hinxton)ENSG00000138698 [Gene_View]  RAP1GDS1 [Vega]
AceView (NCBI)RAP1GDS1
Genatlas (Paris)RAP1GDS1
euGene (Indiana)5910
SOURCE (Stanford)NM_001100426 NM_001100427 NM_001100428 NM_001100429 NM_001100430 NM_021159
Genomic and cartography
GoldenPath (UCSC)RAP1GDS1  -  4q22.3   chr4:99401550-99584035 +  4q23-q25   [Description]    (hg18-Mar_2006)
EnsemblRAP1GDS1 - 4q23-q25 [CytoView]
Mapping of homologs : NCBIRAP1GDS1 [Mapview]
OMIM179502   
Gene and transcription
Gene : Genbank (Entrez)AF215923 AF237413 AI800264 AK055032 AK295156
Reference sequence (RefSeq transcript) :SRSNM_001100426 NM_001100427 NM_001100428 NM_001100429 NM_001100430 NM_021159
Reference transcript : EntrezNM_001100426 NM_001100427 NM_001100428 NM_001100429 NM_001100430 NM_021159
RefSeq genomic : SRSAC_000047 AC_000136 NC_000004 NT_016354 NW_001838915 NW_922162
RefSeq genomic : EntrezAC_000047 AC_000136 NC_000004 NT_016354 NW_001838915 NW_922162
Consensus coding sequences : CCDS NCBIRAP1GDS1
Cluster EST : UnigeneHs.132858 [ SRS ] Hs.132858 [ NCBI ]
Alternative Splicing : Fast-db (Paris)7688
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtP52306 (SRS) P52306 (Expasy) P52306 (Uniprot)
With graphics : InterProP52306
Splice isoforms : VarSplice FASTAP52306(VarSplice FASTA)
Domaine pattern : Prosite (SRS)ARM_REPEAT (PS50176)   
Domain pattern : Prosite (Expaxy)ARM_REPEAT (PS50176)   
Domains : Interpro (SRS)ARM-like    Armadillo   
Domains : Interpro (EBI)ARM-like    Armadillo   
Related proteins : CluSTrP52306
Domain families : Pfam SRSArm (PF00514)   
Domain families : Pfam SangerArm (PF00514)   
Domain families : Pfam NCBIpfam00514   
Domain families : Smart EMBLARM (SM00185)
Blocks (Seattle)P52306
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD11763
Protein Interaction databases
DIP (DOE-UCLA)P52306
IntAct (EBI)P52306
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIRAP1GDS1
SNP : GeneSNP UtahRAP1GDS1
SNP : HGBaseRAP1GDS1
Genetic variants : HAPMAPRAP1GDS1
Somatic Mutations in Cancer : COSMICRAP1GDS1 
Translocation Breakpoints in Cancer : TICdbRAP1GDS1 
Mutations and Diseases : HGMDRAP1GDS1
Hereditary diseases : OMIM179502   
Hereditary diseases : GENETests179502   
Diseases : Genetic AssociationRAP1GDS1
General knowledge
Homologs : HomoloGeneRAP1GDS1
Homology/Alignments : Family Browser UCSCRAP1GDS1
Phylogenetic Trees/Animal Genes : TreeFamRAP1GDS1
Chemical/Protein Interactions : CTD5910
Keywords Ontology : AmiGOGTPase activator activity  binding  cellular_component  biological_process  
Keywords Ontology : EGO-EBIGTPase activator activity  binding  cellular_component  biological_process  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesRAP1GDS1 Related clones (RZPD - Berlin)
Literature
PubMed10 Pubmed reference(s) in Entrez
PubGeneRAP1GDS1

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. 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 : Sat Jun 27 16:41:53 CEST 2009

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