Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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
Cards
Entrez_Gene (NCBI)RASA1  5921  RAS p21 protein activator (GTPase activating protein) 1
GeneCards (Weizmann)RASA1
Ensembl (Hinxton)ENSG00000145715 [Gene_View]  chr5:86564070-86687743 [Contig_View]  RASA1 [Vega]
ICGC DataPortalENSG00000145715
cBioPortalRASA1
AceView (NCBI)RASA1
Genatlas (Paris)RASA1
WikiGenes5921
SOURCE (Princeton)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 (Entrez)NM_002890 NM_022650
RefSeq genomic (Entrez)AC_000137 NC_000005 NC_018916 NG_011650 NT_034772 NW_001838951 NW_004929322
Consensus coding sequences : CCDS (NCBI)RASA1
Cluster EST : UnigeneHs.664080 [ NCBI ]
CGAP (NCI)Hs.664080
Alternative Splicing : Fast-db (Paris)GSHG0024086
Alternative Splicing GalleryENSG00000145715
Gene ExpressionRASA1 [ NCBI-GEO ]     RASA1 [ SEEK ]   RASA1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP20936 (Uniprot)
NextProtP20936  [Medical]
With graphics : InterProP20936
Splice isoforms : SwissVarP20936 (Swissvar)
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 [organisation]   PH_like_dom [organisation]   Pleckstrin_homology [organisation]   RasGAP [organisation]   RasGAP_CS [organisation]   Rho_GTPase_activation_prot [organisation]   SH2 [organisation]   SH3_domain [organisation]  
Related proteins : CluSTrP20936
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)P20936
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   
Human Protein AtlasENSG00000145715 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP20936
HPRD00745
IPIIPI00026262   IPI00220356   IPI01010423   IPI00966095   IPI00966376   IPI00968139   
Protein Interaction databases
DIP (DOE-UCLA)P20936
IntAct (EBI)P20936
FunCoupENSG00000145715
BioGRIDRASA1
InParanoidP20936
Interologous Interaction database P20936
IntegromeDBRASA1
STRING (EMBL)RASA1
Ontologies - Pathways
Ontology : AmiGOmitotic cytokinesis  vasculogenesis  ruffle  glycoprotein binding  negative regulation of cell-matrix adhesion  Ras 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  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-EBImitotic cytokinesis  vasculogenesis  ruffle  glycoprotein binding  negative regulation of cell-matrix adhesion  Ras 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  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 : KEGGMAPK signaling pathway    Ras signaling pathway    Axon guidance   
Protein Interaction DatabaseRASA1
Wikipedia pathwaysRASA1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)RASA1
snp3D : Map Gene to Disease5921
SNP (GeneSNP Utah)RASA1
SNP : HGBaseRASA1
Genetic variants : HAPMAPRASA1
Exome VariantRASA1
1000_GenomesRASA1 
ICGC programENSG00000145715 
Somatic Mutations in Cancer : COSMICRASA1 
CONAN: Copy Number AnalysisRASA1 
Mutations and Diseases : HGMDRASA1
Mutations and Diseases : intOGenRASA1
Genomic VariantsRASA1  RASA1 [DGVbeta]
dbVarRASA1
ClinVarRASA1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM139150    605462    608354    608355   
MedgenRASA1
GENETestsRASA1
Disease Genetic AssociationRASA1
Huge Navigator RASA1 [HugePedia]  RASA1 [HugeCancerGEM]
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
Other databases
Probes
Litterature
PubMed183 Pubmed reference(s) in Entrez
CoreMineRASA1
iHOPRASA1
OncoSearchRASA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 22 19:14:17 CEST 2014

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.