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

Gene ID: 5921, updated on 24-Nov-2020

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
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

Genomic context

See RASA1 in Genome Data Viewer
Location:
5q14.3
Exon count:
26
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (87267845..87391916)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (86564070..86687743)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929380 Neighboring gene microRNA 4280 Neighboring gene long intergenic non-protein coding RNA 1949 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 uncharacterized LOC105379066 Neighboring gene RNA, U6 small nuclear 727, pseudogene Neighboring gene long intergenic non-protein coding RNA 2488

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
BCC1
MedGen: C2751544 OMIM: 605462 GeneReviews: Not available
Compare labs
Capillary malformation-arteriovenous malformation 1 Compare labs
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
GeneReviews: Not available
Meta-analysis of genome-wide association studies for personality.
GeneReviews: 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp434N071

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity EXP
Inferred from Experiment
more info
PubMed 
GTPase activity TAS
Traceable Author Statement
more info
 
GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphotyrosine residue 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
PubMed 
signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
blood vessel morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
intracellular signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
mitotic cytokinesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of Ras protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
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 apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
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 
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 NAS
Non-traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
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 p21 protein activator (GTPase activating protein) 1
p120 RAS GTPase activating protein
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
    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
    P20936
    UniProtKB/TrEMBL
    Q59GK3
    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/Swiss-Prot
    P20936
    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: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    87267845..87391916
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543527.3XP_011541829.1  ras GTPase-activating protein 1 isoform X2

    Related
    ENSP00000423395.2, ENST00000515800.6
    Conserved Domains (4) summary
    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
    cl17171
    Location:489536
    PH-like; Pleckstrin homology-like domain
  2. XM_011543525.2XP_011541827.1  ras GTPase-activating protein 1 isoform X1

    Conserved Domains (8) 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:7141016
    RasGAP_p120GAP; Ras-GTPase Activating Domain of p120
    smart00323
    Location:6981015
    RasGAP; GTPase-activator protein for Ras-like GTPases
    cd13260
    Location:489576
    PH_RASA1; RAS p21 protein activator (GTPase activating protein) 1 Pleckstrin homology (PH) domain
    pfam00169
    Location:489576
    PH; PH domain
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