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    RASA1 RAS p21 protein activator (GTPase activating protein) 1 [ Homo sapiens ]

    Gene ID: 5921, updated on 5-Feb-2012

    Summary

    Official Symbol
    RASA1provided by HGNC
    Official Full Name
    RAS p21 protein activator (GTPase activating protein) 1provided by HGNC
    Primary source
    HGNC:9871
    See related
    Ensembl:ENSG00000145715; HPRD:00745; MIM:139150; Vega:OTTHUMG00000162605
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GAP; PKWS; RASA; CMAVM; CM-AVM; RASGAP; p120GAP; p120RASGAP
    Summary
    The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq, Jul 2008]

    Genomic context

    Location :
    5q13.3
    Sequence :
    Chromosome: 5; NC_000005.9 (86564151..86687733)
    See RASA1 in Epigenomics, MapViewer

    Chromosome 5 - NC_000005.9Genomic Context describing neighboring genes Neighboring gene ribosomal protein L10a pseudogene 9 Neighboring gene microRNA 4280 Neighboring gene cyclin H Neighboring gene uncharacterized LOC100289347

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_002881.1 NP_009297.1 ABL1    BIND  PubMed c-Abl interacts with GAP. 
    NP_002881.1 NP_001146.1 ANXA6    BIND  PubMed Annexin VI interacts with GAP. 
    NP_002881.1 NP_001164.1 ARHGAP5    BIND  PubMed GAP interacts with p190. This interaction was modeled on a demonstrated interaction between human GAP and rat p190. 
    NP_002881.1 NP_003591.2 AURKA    BIND  PubMed RasGAP interacts with HsAIRK-1. 
    NP_002881.1 NP_004208.1 AURKB    BIND  PubMed RasGAP interacts with HsAIRK-2 in the RasGAP/HsAIRK-2/survivin complex. 
    NP_002881.1 NP_004318.2 BCR    BIND  PubMed BCR interacts with GAP. This interaction was modeled on a demonstrated interaction between BCR from an unspecified source and human GAP. 
    NP_002881.1 NP_001372.1 DOK1    BIND  PubMed DOK1 interacts with RASGAP 
    NP_002881.1 NP_003965.2 DOK2    BIND  PubMed Dok2 interacts with RASGAP 
    NP_002881.1 NP_005219.2 EGFR    BIND  PubMed GAP interacts with EGFR. 
    NP_002881.1 NP_006089.1 GNB2L1    BIND  PubMed RACK1 interacts with p120GAP.This interaction was modeled on a demonstrated interaction between RACK1 from mouse and rat, and human p120GAP. 
    NP_002881.1 NP_002102.2 HTT    BIND  PubMed HDP interacts with RasGAP. 
    NP_002881.1 NP_006550.1 KHDRBS1    BIND  PubMed Sam68 interacts with the SH2 domains of p120GAP, preferentially with the C-terminal SH2 domain. This interaction was modelled based on a demonstrated interaction between rat proteins. 
    NP_002881.1 NP_002600.1 PDGFRB    BIND  PubMed N-terminal SH2 domain of GAP interacts with PDGFR. This interaction was modeled on a demonstrated interaction between GAP from human and PDGFR from an unspecified species. 
    NP_002881.1 NP_002600.1 PDGFRB    BIND  PubMed Activated PDGFR interacts with GAP. This interaction was modeled on a demonstrated interaction between human PDGFR and canine GAP. 
    NP_002881.1 NP_002600.1 PDGFRB    BIND  PubMed Autophosphorylated PDGFR interacts with GAP. This interaction was modelled on a demonstrated interaction between human PDGFR and GAP from an unspecified species. 
    NP_002881.1 NP_056888.1 src    BIND  PubMed Rous sarcoma virus v-Src phosphorylates human GAP. 
    P20936 P00519 ABL1    HPRD  PubMed  
    P20936 Q8N4X5 AFAP1L2    HPRD  PubMed  
    P20936 P08133 ANXA6    HPRD  PubMed  
    P20936 Q07960 ARHGAP1    HPRD  PubMed  
    P20936 Q13017 ARHGAP5    HPRD  PubMed  
    P20936 Q96GD4 AURKB    HPRD  PubMed  
    P20936 P11274 BCR    HPRD  PubMed  
    P20936 O15392 BIRC5    HPRD  PubMed  
    P20936 P42574 CASP3    HPRD  PubMed  
    P20936 P55210 CASP7    HPRD  PubMed  
    P20936 P51636 CAV2    HPRD  PubMed  
    P20936 P06127 CD5    HPRD  PubMed  
    P20936 P07333 CSF1R    HPRD  PubMed  
    P20936 P41240 CSK    HPRD  PubMed  
    P20936 Q96EY1 DNAJA3    HPRD  PubMed  
    P20936 Q99704 DOK1    HPRD  PubMed  
    P20936 O60496 DOK2    HPRD  PubMed  
    P20936 Q8TEW6 DOK4    HPRD  PubMed  
    P20936 P00533 EGFR    HPRD  PubMed  
    P20936 P29317 EPHA2    HPRD  PubMed  
    P20936 P29323 EPHB2    HPRD  PubMed  
    P20936 P54753 EPHB3    HPRD  PubMed  
    P20936 P07332 FES    HPRD  PubMed  
    P20936 Q13283 G3BP1    HPRD  PubMed  
    P20936 P63244 GNB2L1    HPRD  PubMed  
    P20936 P62993 GRB2    HPRD  PubMed  
    P20936 P08631 HCK    HPRD  PubMed  
    P20936 P01112 HRAS    HPRD  PubMed  
    P20936 P10809 HSPD1    HPRD  PubMed  
    P20936 P42858 HTT    HPRD  PubMed  
    P20936 P08069 IGF1R    HPRD  PubMed  
    P20936 P06213 INSR    HPRD  PubMed  
    P20936 P35968 KDR    HPRD  PubMed  
    P20936 Q07666 KHDRBS1    HPRD  PubMed  
    P20936 P10721 KIT    HPRD  PubMed  
    P20936 P06239 LCK    HPRD  PubMed  
    P20936 P07948 LYN    HPRD  PubMed  
    P20936 Q96QZ7 MAGI1    HPRD  PubMed  
    P20936 O95819 MAP4K4    HPRD  PubMed  
    P20936 P16333 NCK1    HPRD  PubMed  
    P20936 P04629 NTRK1    HPRD  PubMed  
    P20936 Q9NWQ8 PAG1    HPRD  PubMed  
    P20936 O43924 PDE6D    HPRD  PubMed  
    P20936 P09619 PDGFRB    HPRD  PubMed  
    P20936 P27986 PIK3R1    HPRD  PubMed  
    P20936 Q14289 PTK2B    HPRD  PubMed  
    P20936 P08575 PTPRC    HPRD  PubMed  
    P20936 P49023 PXN    HPRD  PubMed  
    P20936 P20339 RAB5A    HPRD  PubMed  
    P20936 P62834 RAP1A    HPRD  PubMed  
    P20936 P20936 RASA1    HPRD  PubMed  
    P20936 P29353 SHC1    HPRD  PubMed  
    P20936 Q9UBY0 SLC9A2    HPRD  PubMed  
    P20936 O14543 SOCS3    HPRD  PubMed  
    P20936 Q96BD6 SPSB1    HPRD  PubMed  
    P20936 P12931 SRC    HPRD  PubMed  
    P20936 O95793 STAU1    HPRD  PubMed  
    P20936 P43405 SYK    HPRD  PubMed  
    P20936 P17600 SYN1    HPRD  PubMed  
    P20936 Q9H0M0 WWP1    HPRD  PubMed  
    P20936 O00308 WWP2    HPRD  PubMed  
    P20936 P07947 YES1    HPRD  PubMed  
    P20936 P43403 ZAP70    HPRD  PubMed  
    BioGRID:111856 BioGRID:106806 ANXA6    BioGRID  PubMed Far Western; Reconstituted Complex 
    BioGRID:111856 BioGRID:109166 ARHGAP35    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111856 BioGRID:122851 BBS10    BioGRID  PubMed Two-hybrid 
    BioGRID:111856 BioGRID:114457 BTRC    BioGRID  PubMed Phenotypic Suppression 
    BioGRID:111856 BioGRID:107306 CAV2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111856 BioGRID:107359 CD5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111856 BioGRID:107832 CSK    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111856 BioGRID:114547 DNAJA3    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111856 BioGRID:108131 DOK1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111856 BioGRID:114508 DOK2    BioGRID  PubMed Affinity Capture-Western 
    NP_060580.2 DOK4    BIND  PubMed IRS5/DOK4 interacts with RasGAP. This interaction was modelled on a demonstrated interaction between human IRS5/DOK4 and hamster RasGAP. 
    BioGRID:111856 BioGRID:108276 EGFR    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111856 BioGRID:115504 EIF1    BioGRID  PubMed Two-hybrid 
    BioGRID:111856 BioGRID:108362 EPHB2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111856 BioGRID:108363 EPHB3    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111856 BioGRID:108446 EZH2    BioGRID  PubMed Two-hybrid 
    BioGRID:111856 BioGRID:115448 G3BP1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111856 BioGRID:115671 GNB2L1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111856 BioGRID:109142 GRB2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111856 BioGRID:109305 HCK    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111856 BioGRID:109501 HRAS    BioGRID  PubMed Biochemical Activity; Co-crystal Structure; Reconstituted Complex 
    BioGRID:111856 BioGRID:109314 HTT    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111856 BioGRID:109701 IGF1R    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111856 BioGRID:109854 INSR    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111856 BioGRID:109992 KDR    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111856 BioGRID:115900 KHDRBS1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111856 BioGRID:110124 LCK    BioGRID  PubMed Biochemical Activity 
    BioGRID:111856 BioGRID:114838 MAP4K4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111856 BioGRID:110770 NCK1    BioGRID  PubMed Affinity Capture-Western; Far Western; Reconstituted Complex 
    BioGRID:111856 BioGRID:110859 NFKBIA    BioGRID  PubMed Phenotypic Suppression 
    BioGRID:111856 BioGRID:111185 PDGFRB    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111856 BioGRID:111351 PLCG1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111856 BioGRID:108480 PTK2B    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111856 BioGRID:111787 PXN    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111856 BioGRID:111285 SERPINA4    BioGRID  PubMed Two-hybrid 
    BioGRID:111856 BioGRID:112439 SLC9A2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111856 BioGRID:114488 SOCS3    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111856 BioGRID:112592 SRC    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:111856 BioGRID:112719 SYN1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111856 BioGRID:117968 TRMT2A    BioGRID  PubMed Two-hybrid 
    BioGRID:111856 BioGRID:108822 XRCC6    BioGRID  PubMed Two-hybrid 
    BioGRID:111856 BioGRID:113357 YES1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111856 BioGRID:113367 ZAP70    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111856 BioGRID:127842 ZNF579    BioGRID  PubMed Two-hybrid 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    Clone Names

    • DKFZp434N071

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Ras GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    glycoprotein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    potassium channel inhibitor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
     
    receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cytokinesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryo development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    intracellular signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of Ras protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    negative regulation of cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell-matrix adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of neuron apoptosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of Ras GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of Ras GTPase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of anti-apoptosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of RNA metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of actin filament polymerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cell shape NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of small GTPase mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    vasculogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytoplasm NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    intrinsic to internal side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    ruffle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    ras GTPase-activating protein 1
    Names
    ras GTPase-activating protein 1
    triphosphatase-activating protein

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011650.1 RefSeqGene

      Range
      4920..128593
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002890.2NP_002881.1  ras GTPase-activating protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks the alternatively spliced insert found in variant 2, resulting in translation of the longer isoform (1).
      Source sequence(s)
      AB209106, CF528258, M23379
      Consensus CDS
      CCDS34200.1
      UniProtKB/Swiss-Prot
      P20936
      UniProtKB/TrEMBL
      Q59GK3
      Related
      ENSP00000274376, OTTHUMP00000222390, ENST00000274376, OTTHUMT00000369729
      Conserved Domains (6) summary
      cd00174
      Location:295338
      Blast Score: 101
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      cd05391
      Location:7211035
      Blast Score: 1498
      RasGAP_p120GAP; p120GAP is a negative regulator of Ras that stimulates hydrolysis of bound GTP to GDP. Once the Ras regulator p120GAP, a member of the GAP protein family, is recruited to the membrane, it is transiently immobilized to interact with Ras-GTP. The down ...
      cd08400
      Location:591716
      Blast Score: 620
      C2_Ras_p21A1; C2 domain present in RAS p21 protein activator 1 (RasA1)
      cd01245
      Location:494575
      Blast Score: 260
      PH_RasGAP_CG5898; RAS GTPase-activating protein (GAP) CG5898 Pleckstrin homology (PH) domain
      cd10353
      Location:161264
      Blast Score: 562
      SH2_Nterm_RasGAP; N-terminal Src homology 2 (SH2) domain found in Ras GTPase-activating protein 1 (GAP)
      cd10354
      Location:350426
      Blast Score: 412
      SH2_Cterm_RasGAP; C-terminal Src homology 2 (SH2) domain found in Ras GTPase-activating protein 1 (GAP)
    2. NM_022650.2NP_072179.1  ras GTPase-activating protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternatively spliced exon in the 5' portion of the transcript, allowing for translation from an alternative initiation codon and resulting in the shorter isoform (2) which is missing the hydrophobic amino terminus found in isoform 1.
      Source sequence(s)
      CF528258, DA863496, M23612
      Consensus CDS
      CCDS47243.1
      UniProtKB/Swiss-Prot
      P20936
      Related
      ENSP00000411221, OTTHUMP00000222391, ENST00000456692, OTTHUMT00000369730
      Conserved Domains (6) summary
      cd00174
      Location:118161
      Blast Score: 101
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      cd05391
      Location:544858
      Blast Score: 1499
      RasGAP_p120GAP; p120GAP is a negative regulator of Ras that stimulates hydrolysis of bound GTP to GDP. Once the Ras regulator p120GAP, a member of the GAP protein family, is recruited to the membrane, it is transiently immobilized to interact with Ras-GTP. The down ...
      cd08400
      Location:414539
      Blast Score: 620
      C2_Ras_p21A1; C2 domain present in RAS p21 protein activator 1 (RasA1)
      cd01245
      Location:317398
      Blast Score: 258
      PH_RasGAP_CG5898; RAS GTPase-activating protein (GAP) CG5898 Pleckstrin homology (PH) domain
      cd10354
      Location:173249
      Blast Score: 408
      SH2_Cterm_RasGAP; C-terminal Src homology 2 (SH2) domain found in Ras GTPase-activating protein 1 (GAP)
      cl15255
      Location:487
      Blast Score: 462
      SH2; Src homology 2 (SH2) domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000005.9 Reference GRCh37.p5 Primary Assembly

      Range
      86564151..86687733
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000137.1 Alternate HuRef

      Range
      81768484..81891898
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC010410.8 None
    genomic AC018754.6 (117133..139996) None
    genomic AC035142.4 (2902..84684) None
    genomic AC126776.2 (15654..34334) None
    genomic CH471084.1 EAW95931.1
      EAW95932.1
      EAW95933.1
    mRNA AB209106.1 BAD92343.1
    mRNA AK300263.1 BAG62024.1
    mRNA AK300269.1 BAG62030.1
    mRNA AK300406.1 BAG62136.1
    mRNA AK312739.1 BAG35610.1
    mRNA BC020761.1 AAH20761.1
    mRNA BC033015.2 AAH33015.1
    mRNA BC054891.1 AAH54891.1
    mRNA BC070063.1 None
    mRNA BC107870.1 None
    mRNA CF528258.1 None
    mRNA CR749722.1 CAH18488.2
    mRNA DA863496.1 None
    mRNA M23379.1 AAA52517.1
    mRNA M23612.1 AAA35865.1
    Protein Accession Links
    GenePept Link UniProtKB Link
    P20936.1 GenPept UniProtKB/Swiss-Prot:P20936
    Q05CU5 GenPept UniProtKB/TrEMBL:Q05CU5
    Q59GK3 GenPept UniProtKB/TrEMBL:Q59GK3
    Q68CU6 GenPept UniProtKB/TrEMBL:Q68CU6
    Q7Z4M2 GenPept UniProtKB/TrEMBL:Q7Z4M2

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