RASA1 RAS p21 protein activator 1
Gene ID: 5921, updated on 1-Apr-2024Gene type: protein coding
Also known as: GAP; PKWS; RASA; p120; CMAVM; CM-AVM; CMAVM1; RASGAP; p120GAP; p120RASGAP
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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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Basal cell carcinoma, susceptibility to, 1 | See labs |
Capillary malformation-arteriovenous malformation 1 | See 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 PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-04-22) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 5q14.3
- Sequence:
- Chromosome: 5; NC_000005.10 (87267883..87391916)
- Total number of exons:
- 25
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for RASA1 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ARUP RASA1 Database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RASA1base: Database for pathogenic mutations in the RasGAP SH2 domain
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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