U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 5921, updated on 9-Dec-2024

    Summary

    Official Symbol
    RASA1provided by HGNC
    Official Full Name
    RAS p21 protein activator 1provided by HGNC
    Primary source
    HGNC:HGNC:9871
    See related
    Ensembl:ENSG00000145715 MIM:139150; AllianceGenome:HGNC:9871
    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; p120; CMAVM; CM-AVM; CMAVM1; 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. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. 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, May 2012]
    Expression
    Broad expression in placenta (RPKM 37.4), testis (RPKM 12.6) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RASA1 in Genome Data Viewer
    Location:
    5q14.3
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (87267883..87391916)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (87749006..87873021)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (86563700..86687733)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene MIR4280 host gene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22750 Neighboring gene uncharacterized LOC101929380 Neighboring gene microRNA 4280 Neighboring gene MPRA-validated peak5332 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22751 Neighboring gene long intergenic non-protein coding RNA 1949 Neighboring gene Sharpr-MPRA regulatory region 12969 Neighboring gene Sharpr-MPRA regulatory region 46 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:86563777-86564664 Neighboring gene uncharacterized LOC124901022 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:86595594-86596094 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:86596095-86596595 Neighboring gene RNA, 7SL, cytoplasmic 629, pseudogene Neighboring gene RNA, U6 small nuclear 606, pseudogene Neighboring gene uncharacterized LOC644285 Neighboring gene cyclin H Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22753 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22754 Neighboring gene uncharacterized LOC105379066 Neighboring gene RNA, U6 small nuclear 727, pseudogene Neighboring gene uncharacterized LOC124901222

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Basal cell carcinoma, susceptibility to, 1
    MedGen: C2751544 OMIM: 605462 GeneReviews: Not available
    not available
    Capillary malformation-arteriovenous malformation 1 not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-04-22)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-04-22)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies for personality.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp434N071

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables GTPase activity TAS
    Traceable Author Statement
    more info
     
    enables GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables phosphotyrosine residue binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables potassium channel inhibitor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in ruffle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    ras GTPase-activating protein 1
    Names
    RAS p21 protein activator (GTPase activating protein) 1
    p120 RAS GTPase activating protein
    triphosphatase-activating protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4550..128583
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002890.3NP_002881.1  ras GTPase-activating protein 1 isoform 1

      See identical proteins and their annotated locations for NP_002881.1

      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, AC126776, M23379
      Consensus CDS
      CCDS34200.1
      UniProtKB/Swiss-Prot
      B2R6W3, B4DTL2, P20936, Q68CU6, Q9UDI1
      UniProtKB/TrEMBL
      E9PGC0
      Related
      ENSP00000274376.6, ENST00000274376.11
      Conserved Domains (6) summary
      cd08400
      Location:591716
      C2_Ras_p21A1; C2 domain present in RAS p21 protein activator 1 (RasA1)
      cd10353
      Location:161264
      SH2_Nterm_RasGAP; N-terminal Src homology 2 (SH2) domain found in Ras GTPase-activating protein 1 (GAP)
      cd10354
      Location:350426
      SH2_Cterm_RasGAP; C-terminal Src homology 2 (SH2) domain found in Ras GTPase-activating protein 1 (GAP)
      cd11788
      Location:281339
      SH3_RasGAP; Src Homology 3 domain of Ras GTPase-Activating Protein 1
      cd05391
      Location:7141045
      RasGAP_p120GAP; Ras-GTPase Activating Domain of p120
      cd13260
      Location:489576
      PH_RASA1; RAS p21 protein activator (GTPase activating protein) 1 Pleckstrin homology (PH) domain
    2. NM_022650.3NP_072179.1  ras GTPase-activating protein 1 isoform 2

      See identical proteins and their annotated locations for NP_072179.1

      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/TrEMBL
      E9PGC0
      Related
      ENSP00000411221.2, ENST00000456692.6
      Conserved Domains (6) summary
      cd08400
      Location:414539
      C2_Ras_p21A1; C2 domain present in RAS p21 protein activator 1 (RasA1)
      cd10354
      Location:173249
      SH2_Cterm_RasGAP; C-terminal Src homology 2 (SH2) domain found in Ras GTPase-activating protein 1 (GAP)
      cd11788
      Location:104162
      SH3_RasGAP; Src Homology 3 domain of Ras GTPase-Activating Protein 1
      cd05391
      Location:537868
      RasGAP_p120GAP; Ras-GTPase Activating Domain of p120
      cl15255
      Location:487
      SH2; Src homology 2 (SH2) domain
      cl17171
      Location:312399
      PH-like; Pleckstrin homology-like domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      87267883..87391916
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      87749006..87873021
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)