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RASA1 (RAS p21 protein activator 1)

Identity

Other namesCM-AVM
CMAVM
GAP
PKWS
RASA
RASGAP
p120
p120GAP
p120RASGAP
HGNC (Hugo) RASA1
LocusID (NCBI) 5921
Atlas_Id 53310
Location 5q14.3
Location_base_pair Starts at 86564070 and ends at 86687743 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
RASA1 (5q14.3) / FNIP1 (5q31.1)RASA1 (5q14.3) / RASA1 (5q14.3)RASA1 (5q14.3) / VDAC1 (5q31.1)
RASA1 (5q14.3) / WNT5A (3p14.3)TNFSF10 (3q26.31) / RASA1 (5q14.3)RASA1 5q14.3 / FNIP1 5q31.1

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
Cards
Entrez_Gene (NCBI)RASA1  5921  RAS p21 protein activator 1
AliasesCM-AVM; CMAVM; GAP; PKWS; 
RASA; RASGAP; p120; p120GAP; p120RASGAP
GeneCards (Weizmann)RASA1
Ensembl hg19 (Hinxton)ENSG00000145715 [Gene_View]  chr5:86564070-86687743 [Contig_View]  RASA1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000145715 [Gene_View]  chr5:86564070-86687743 [Contig_View]  RASA1 [Vega]
ICGC DataPortalENSG00000145715
TCGA cBioPortalRASA1
AceView (NCBI)RASA1
Genatlas (Paris)RASA1
WikiGenes5921
SOURCE (Princeton)RASA1
Genomic and cartography
GoldenPath hg19 (UCSC)RASA1  -     chr5:86564070-86687743 +  5q14.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RASA1  -     5q14.3   [Description]    (hg38-Dec_2013)
EnsemblRASA1 - 5q14.3 [CytoView hg19]  RASA1 - 5q14.3 [CytoView hg38]
Mapping of homologs : NCBIRASA1 [Mapview hg19]  RASA1 [Mapview hg38]
OMIM139150   605462   608354   608355   
Gene and transcription
Genbank (Entrez)AB209106 AK300263 AK300269 AK300406 AK312739
RefSeq transcript (Entrez)NM_002890 NM_022650
RefSeq genomic (Entrez)NC_000005 NC_018916 NG_011650 NT_034772 NW_004929322
Consensus coding sequences : CCDS (NCBI)RASA1
Cluster EST : UnigeneHs.664080 [ NCBI ]
CGAP (NCI)Hs.664080
Alternative Splicing GalleryENSG00000145715
Gene ExpressionRASA1 [ NCBI-GEO ]   RASA1 [ EBI - ARRAY_EXPRESS ]   RASA1 [ SEEK ]   RASA1 [ MEM ]
Gene Expression Viewer (FireBrowse)RASA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5921
GTEX Portal (Tissue expression)RASA1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP20936 (Uniprot)
NextProtP20936  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP20936
Splice isoforms : SwissVarP20936 (Swissvar)
PhosPhoSitePlusP20936
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 (EBI)C2_dom    p120-RasGAP    PH_dom-like    PH_domain    RasGAP_CS    RasGAP_dom    Rho_GTPase_activation_prot    SH2    SH3_domain   
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)  
DMDM Disease mutations5921
Blocks (Seattle)RASA1
PDB (SRS)1WER    1WQ1    2GQI    2GSB    2J05    2J06    2M51    4FSS   
PDB (PDBSum)1WER    1WQ1    2GQI    2GSB    2J05    2J06    2M51    4FSS   
PDB (IMB)1WER    1WQ1    2GQI    2GSB    2J05    2J06    2M51    4FSS   
PDB (RSDB)1WER    1WQ1    2GQI    2GSB    2J05    2J06    2M51    4FSS   
Structural Biology KnowledgeBase1WER    1WQ1    2GQI    2GSB    2J05    2J06    2M51    4FSS   
SCOP (Structural Classification of Proteins)1WER    1WQ1    2GQI    2GSB    2J05    2J06    2M51    4FSS   
CATH (Classification of proteins structures)1WER    1WQ1    2GQI    2GSB    2J05    2J06    2M51    4FSS   
SuperfamilyP20936
Human Protein AtlasENSG00000145715
Peptide AtlasP20936
HPRD00745
IPIIPI00026262   IPI00220356   IPI01010423   IPI00966095   IPI00966376   IPI00968139   
Protein Interaction databases
DIP (DOE-UCLA)P20936
IntAct (EBI)P20936
FunCoupENSG00000145715
BioGRIDRASA1
STRING (EMBL)RASA1
ZODIACRASA1
Ontologies - Pathways
QuickGOP20936
Ontology : AmiGOMAPK cascade  mitotic cytokinesis  vasculogenesis  ruffle  glycoprotein binding  negative regulation of cell-matrix adhesion  GTPase activator activity  receptor binding  protein 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 component of the cytoplasmic side of the plasma membrane  intracellular signal transduction  negative regulation of neuron apoptotic process  positive regulation of GTPase activity  negative regulation of Ras protein signal transduction  ephrin receptor signaling pathway  blood vessel morphogenesis  GTPase binding  regulation of RNA metabolic process  
Ontology : EGO-EBIMAPK cascade  mitotic cytokinesis  vasculogenesis  ruffle  glycoprotein binding  negative regulation of cell-matrix adhesion  GTPase activator activity  receptor binding  protein 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 component of the cytoplasmic side of the plasma membrane  intracellular signal transduction  negative regulation of neuron apoptotic process  positive regulation of GTPase activity  negative regulation of Ras protein signal transduction  ephrin receptor signaling pathway  blood vessel morphogenesis  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 : KEGGMAPK signaling pathway    Ras signaling pathway    Axon guidance   
NDEx Network
Atlas of Cancer Signalling NetworkRASA1
Wikipedia pathwaysRASA1
Orthology - Evolution
OrthoDB5921
GeneTree (enSembl)ENSG00000145715
Phylogenetic Trees/Animal Genes : TreeFamRASA1
Homologs : HomoloGeneRASA1
Homology/Alignments : Family Browser (UCSC)RASA1
Gene fusions - Rearrangements
Fusion: TCGARASA1 5q14.3 FNIP1 5q31.1 LUAD
Polymorphisms : SNP, variants
NCBI Variation ViewerRASA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RASA1
dbVarRASA1
ClinVarRASA1
1000_GenomesRASA1 
Exome Variant ServerRASA1
ExAC (Exome Aggregation Consortium)RASA1 (select the gene name)
Genetic variants : HAPMAP5921
Genomic Variants (DGV)RASA1 [DGVbeta]
Mutations
ICGC Data PortalRASA1 
TCGA Data PortalRASA1 
Broad Tumor PortalRASA1
OASIS PortalRASA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRASA1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Vascular Anomaly and Lymphedema Mutation Database
BioMutasearch RASA1
DgiDB (Drug Gene Interaction Database)RASA1
DoCM (Curated mutations)RASA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RASA1 (select a term)
intoGenRASA1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)5:86564070-86687743  ENSG00000145715
CONAN: Copy Number AnalysisRASA1 
Mutations and Diseases : HGMDRASA1
OMIM139150    605462    608354    608355   
MedgenRASA1
Genetic Testing Registry RASA1
NextProtP20936 [Medical]
TSGene5921
GENETestsRASA1
Huge Navigator RASA1 [HugePedia]
snp3D : Map Gene to Disease5921
BioCentury BCIQRASA1
ClinGenRASA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5921
Chemical/Pharm GKB GenePA34232
Clinical trialRASA1
Miscellaneous
canSAR (ICR)RASA1 (select the gene name)
Probes
Litterature
PubMed204 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRASA1
EVEXRASA1
GoPubMedRASA1
iHOPRASA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat May 28 11:18:24 CEST 2016

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