Atlas of Genetics and Cytogenetics in Oncology and Haematology

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RASA1 (RAS p21 protein activator (GTPase activating protein) 1)

Identity

Other namesCM-AVM
CMAVM
GAP
PKWS
RASA
RASGAP
p120GAP
p120RASGAP
HGNC (Hugo) RASA1
LocusID (NCBI) 5921
Location 5q14.3
Location_base_pair Starts at 86564070 and ends at 86687743 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)RASA1   9871
Entrez_Gene (NCBI)RASA1  5921  RAS p21 protein activator (GTPase activating protein) 1
Cards
GeneCards (Weizmann)RASA1
Ensembl (Hinxton)ENSG00000145715 [Gene_View]  chr5:86564070-86687743 [Contig_View]  RASA1 [Vega]
AceView (NCBI)RASA1
Genatlas (Paris)RASA1
SOURCE (Stanford)NM_002890 NM_022650
Genomic and cartography
GoldenPath (UCSC)RASA1  -  5q14.3   chr5:86564070-86687743 +  5q14.3   [Description]    (hg19-Feb_2009)
EnsemblRASA1 - 5q14.3 [CytoView]
Mapping of homologs : NCBIRASA1 [Mapview]
OMIM139150   605462   608354   608355   
Gene and transcription
Genbank (Entrez)AB209106 AK300263 AK300269 AK300406 AK312739
RefSeq transcript (SRS)NM_002890 NM_022650
RefSeq transcript (Entrez)NM_002890 NM_022650
RefSeq genomic (SRS)AC_000137 NC_000005 NC_018916 NG_011650 NT_006713 NW_001838951 NW_004078023
RefSeq genomic (Entrez)AC_000137 NC_000005 NC_018916 NG_011650 NT_006713 NW_001838951 NW_004078023
Consensus coding sequences : CCDS (NCBI)RASA1
Cluster EST : UnigeneHs.664080 [ SRS ] Hs.664080 [ NCBI ]
CGAP (NCI)Hs.664080
Alternative Splicing : Fast-db (Paris)GSHG0024086
Alternative Splicing GalleryENSG00000145715
Gene ExpressionRASA1 [ NCBI-GEO ]   RASA1 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP20936 (SRS) P20936 (Uniprot)
NextProtP20936
With graphics : InterProP20936
Splice isoforms : SwissVarP20936(Swissvar)
Domaine pattern : Prosite (SRS)C2 (PS50004)    PH_DOMAIN (PS50003)    RAS_GTPASE_ACTIV_1 (PS00509)    RAS_GTPASE_ACTIV_2 (PS50018)    SH2 (PS50001)    SH3 (PS50002)   
Domaine pattern : Prosite (Expaxy)C2 (PS50004)    PH_DOMAIN (PS50003)    RAS_GTPASE_ACTIV_1 (PS00509)    RAS_GTPASE_ACTIV_2 (PS50018)    SH2 (PS50001)    SH3 (PS50002)   
Domains : Interpro (SRS)C2_Ca-dep    C2_Ca/lipid-bd_dom_CaLB    C2_membr_targeting    PH_like_dom    Pleckstrin_homology    RasGAP    RasGAP_CS    Rho_GTPase_activation_prot    SH2    SH3_domain   
Domains : Interpro (EBI)C2_Ca-dep    C2_Ca/lipid-bd_dom_CaLB    C2_membr_targeting    PH_like_dom    Pleckstrin_homology    RasGAP    RasGAP_CS    Rho_GTPase_activation_prot    SH2    SH3_domain   
Related proteins : CluSTrP20936
Domain families : Pfam (SRS)C2 (PF00168)    PH (PF00169)    RasGAP (PF00616)    SH2 (PF00017)    SH3_1 (PF00018)   
Domain families : Pfam (Sanger)C2 (PF00168)    PH (PF00169)    RasGAP (PF00616)    SH2 (PF00017)    SH3_1 (PF00018)   
Domain families : Pfam (NCBI)pfam00168    pfam00169    pfam00616    pfam00017    pfam00018   
Domain families : Smart (EMBL)C2 (SM00239)  PH (SM00233)  RasGAP (SM00323)  SH2 (SM00252)  SH3 (SM00326)  
DMDM5921
Blocks (Seattle)P20936
PDB (SRS)1WER    1WQ1    2GQI    2GSB    2J05    2J06    4FSS   
PDB (PDBSum)1WER    1WQ1    2GQI    2GSB    2J05    2J06    4FSS   
PDB (IMB)1WER    1WQ1    2GQI    2GSB    2J05    2J06    4FSS   
PDB (RSDB)1WER    1WQ1    2GQI    2GSB    2J05    2J06    4FSS   
Human Protein AtlasENSG00000145715
HPRD00745
IPIIPI00026262   IPI00220356   IPI01010423   IPI00966095   IPI00966376   IPI00968139   
Protein Interaction databases
DIP (DOE-UCLA)P20936
IntAct (EBI)P20936
FunCoupENSG00000145715
REACTOMERASA1
Protein Interaction Database5921
BioGRIDRASA1
InParanoidP20936
Interologous Interaction database P20936
IntegromeDBRASA1
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)RASA1
SNP (GeneSNP Utah)RASA1
SNP : HGBaseRASA1
Genetic variants : HAPMAPRASA1
Somatic Mutations in Cancer : COSMICRASA1 
CONAN: Copy Number AnalysisRASA1 
Mutations and Diseases : HGMDRASA1
OMIM139150    605462    608354    608355   
GENETests139150    605462    608354    608355   
Disease Genetic AssociationRASA1
Huge Navigator RASA1 [HugePedia]  RASA1 [HugeCancerGEM]
Genomic VariantsRASA1  RASA1 [DGVbeta]
snp3D : Map Gene to Disease5921
General knowledge
Homologs : HomoloGeneRASA1
Homology/Alignments : Family Browser (UCSC)RASA1
Phylogenetic Trees/Animal Genes : TreeFamRASA1
Chemical/Protein Interactions : CTD5921
Chemical/Pharm GKB GenePA34232
Clinical trialRASA1
Cancer Resource (Charite)ENSG00000145715
Ontology : AmiGOcytokinesis  vasculogenesis  ruffle  glycoprotein binding  negative regulation of cell-matrix adhesion  Ras GTPase activator activity  receptor binding  protein binding  phospholipid binding  cytoplasm  cytoplasm  cytosol  negative regulation of cell adhesion  signal transduction  regulation of cell shape  embryo development  potassium channel inhibitor activity  regulation of actin filament polymerization  intrinsic to internal side of plasma membrane  positive regulation of Ras GTPase activity  intracellular signal transduction  negative regulation of neuron apoptotic process  negative regulation of Ras protein signal transduction  GTPase binding  regulation of RNA metabolic process  
Ontology : EGO-EBIcytokinesis  vasculogenesis  ruffle  glycoprotein binding  negative regulation of cell-matrix adhesion  Ras GTPase activator activity  receptor binding  protein binding  phospholipid binding  cytoplasm  cytoplasm  cytosol  negative regulation of cell adhesion  signal transduction  regulation of cell shape  embryo development  potassium channel inhibitor activity  regulation of actin filament polymerization  intrinsic to internal side of plasma membrane  positive regulation of Ras GTPase activity  intracellular signal transduction  negative regulation of neuron apoptotic process  negative regulation of Ras protein signal transduction  GTPase binding  regulation of RNA metabolic process  
Pathways : BIOCARTAHIV-I Nef: negative effector of Fas and TNF [Genes]    PDGF Signaling Pathway [Genes]    T Cell Receptor Signaling Pathway [Genes]    Regulation of Splicing through Sam68 [Genes]    Signaling of Hepatocyte Growth Factor Receptor [Genes]    Sprouty regulation of tyrosine kinase signals [Genes]    Insulin Signaling Pathway [Genes]    TPO Signaling Pathway [Genes]    EGF Signaling Pathway [Genes]    IGF-1 Signaling Pathway [Genes]   
Pathways : KEGGHuntington's diseaseAxon guidanceMAPK signaling pathway
Other databases
Probes
Litterature
PubMed160 Pubmed reference(s) in Entrez
PubGeneRASA1
iHOPRASA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:19:40 CEST 2013
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