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RASA1 (RAS p21 protein activator 1)

Identity

Alias (NCBI)CM-AVM
CMAVM
CMAVM1
GAP
PKWS
RASA
RASGAP
p120
p120GAP
p120RASGAP
HGNC (Hugo) RASA1
HGNC Alias symbGAP
CM-AVM
p120GAP
p120RASGAP
p120
HGNC Alias namecapillary malformation-arteriovenous malformation
 p120 RAS GTPase activating protein
HGNC Previous nameRASA
HGNC Previous nameRAS p21 protein activator (GTPase activating protein) 1
LocusID (NCBI) 5921
Atlas_Id 53310
Location 5q14.3  [Link to chromosome band 5q14]
Location_base_pair Starts at 87268924 and ends at 87391926 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    RAS p21 protein activator 1
AliasesCM-AVM; CMAVM; CMAVM1; GAP; 
PKWS; RASA; RASGAP; p120; p120GAP; p120RASGAP
GeneCards (Weizmann)RASA1
Ensembl hg19 (Hinxton)ENSG00000145715 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000145715 [Gene_View]  ENSG00000145715 [Sequence]  chr5:87268924-87391926 [Contig_View]  RASA1 [Vega]
ICGC DataPortalENSG00000145715
TCGA cBioPortalRASA1
AceView (NCBI)RASA1
Genatlas (Paris)RASA1
SOURCE (Princeton)RASA1
Genetics Home Reference (NIH)RASA1
Genomic and cartography
GoldenPath hg38 (UCSC)RASA1  -     chr5:87268924-87391926 +  5q14.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RASA1  -     5q14.3   [Description]    (hg19-Feb_2009)
GoldenPathRASA1 - 5q14.3 [CytoView hg19]  RASA1 - 5q14.3 [CytoView hg38]
ImmunoBaseENSG00000145715
Genome Data Viewer NCBIRASA1 [Mapview hg19]  
OMIM139150   605462   608354   
Gene and transcription
Genbank (Entrez)AB209106 AK300263 AK300269 AK300406 AK312739
RefSeq transcript (Entrez)NM_002890 NM_022650
Consensus coding sequences : CCDS (NCBI)RASA1
Gene ExpressionRASA1 [ NCBI-GEO ]   RASA1 [ EBI - ARRAY_EXPRESS ]   RASA1 [ SEEK ]   RASA1 [ MEM ]
Gene Expression Viewer (FireBrowse)RASA1 [ Firebrowse - Broad ]
GenevisibleExpression of RASA1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5921
GTEX Portal (Tissue expression)RASA1
Human Protein AtlasENSG00000145715-RASA1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP20936   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP20936  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP20936
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    C2_domain_sf    p120-RasGAP    PH-like_dom_sf    PH_domain    Ras_GTPase    RasGAP_C_SH2    RasGAP_CS    RasGAP_dom    RasGAP_N_SH2    RasGAP_SH3    Rho_GTPase_activation_prot    SH2    SH2_dom_sf    SH3-like_dom_sf    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)  
Conserved Domain (NCBI)RASA1
PDB (RSDB)1WER    1WQ1    2GQI    2GSB    2J05    2J06    2M51    4FSS    6PXB    6PXC    6WAX    6WAY   
PDB Europe1WER    1WQ1    2GQI    2GSB    2J05    2J06    2M51    4FSS    6PXB    6PXC    6WAX    6WAY   
PDB (PDBSum)1WER    1WQ1    2GQI    2GSB    2J05    2J06    2M51    4FSS    6PXB    6PXC    6WAX    6WAY   
PDB (IMB)1WER    1WQ1    2GQI    2GSB    2J05    2J06    2M51    4FSS    6PXB    6PXC    6WAX    6WAY   
Structural Biology KnowledgeBase1WER    1WQ1    2GQI    2GSB    2J05    2J06    2M51    4FSS    6PXB    6PXC    6WAX    6WAY   
SCOP (Structural Classification of Proteins)1WER    1WQ1    2GQI    2GSB    2J05    2J06    2M51    4FSS    6PXB    6PXC    6WAX    6WAY   
CATH (Classification of proteins structures)1WER    1WQ1    2GQI    2GSB    2J05    2J06    2M51    4FSS    6PXB    6PXC    6WAX    6WAY   
SuperfamilyP20936
AlphaFold pdb e-kbP20936   
Human Protein Atlas [tissue]ENSG00000145715-RASA1 [tissue]
HPRD00745
Protein Interaction databases
DIP (DOE-UCLA)P20936
IntAct (EBI)P20936
BioGRIDRASA1
STRING (EMBL)RASA1
ZODIACRASA1
Ontologies - Pathways
QuickGOP20936
Ontology : AmiGOMAPK cascade  mitotic cytokinesis  vasculogenesis  ruffle  phosphotyrosine residue binding  negative regulation of cell-matrix adhesion  GTPase activator activity  signaling receptor binding  protein binding  cytoplasm  cytosol  plasma membrane  negative regulation of cell adhesion  signal transduction  regulation of cell shape  potassium channel inhibitor activity  regulation of actin filament polymerization  intracellular signal transduction  negative regulation of apoptotic process  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  phosphotyrosine residue binding  negative regulation of cell-matrix adhesion  GTPase activator activity  signaling receptor binding  protein binding  cytoplasm  cytosol  plasma membrane  negative regulation of cell adhesion  signal transduction  regulation of cell shape  potassium channel inhibitor activity  regulation of actin filament polymerization  intracellular signal transduction  negative regulation of apoptotic process  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 NetworkRASA1
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 : MitelmanRASA1/FNIP1 [5q14.3/5q31.1]  
Fusion : MitelmanRASA1/VDAC1 [5q14.3/5q31.1]  
Fusion : QuiverRASA1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRASA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RASA1
dbVarRASA1
ClinVarRASA1
MonarchRASA1
1000_GenomesRASA1 
Exome Variant ServerRASA1
GNOMAD BrowserENSG00000145715
Varsome BrowserRASA1
ACMGRASA1 variants
VarityP20936
Genomic Variants (DGV)RASA1 [DGVbeta]
DECIPHERRASA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRASA1 
Mutations
ICGC Data PortalRASA1 
TCGA Data PortalRASA1 
Broad Tumor PortalRASA1
OASIS PortalRASA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRASA1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DRASA1
Mutations and Diseases : HGMDRASA1
intOGen PortalRASA1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaRASA1
DgiDB (Drug Gene Interaction Database)RASA1
DoCM (Curated mutations)RASA1
CIViC (Clinical Interpretations of Variants in Cancer)RASA1
Cancer3DRASA1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM139150    605462    608354   
Orphanet16702    12004   
DisGeNETRASA1
MedgenRASA1
Genetic Testing Registry RASA1
NextProtP20936 [Medical]
GENETestsRASA1
Target ValidationRASA1
Huge Navigator RASA1 [HugePedia]
ClinGenRASA1 (curated)
Clinical trials, drugs, therapy
MyCancerGenomeRASA1
Protein Interactions : CTDRASA1
Pharm GKB GenePA34232
PharosP20936
Clinical trialRASA1
Miscellaneous
canSAR (ICR)RASA1
HarmonizomeRASA1
DataMed IndexRASA1
Probes
Litterature
PubMed248 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXRASA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:28:17 CEST 2021

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