Basic Information

Symbol
RASA1
RNA class
mRNA
Alias
RAS P21 Protein Activator 1 P120GAP GAP Ras GTPase-Activating Protein 1 P120RASGAP CM-AVM P120 RASA RAS P21 Protein Activator (GTPase Activating Protein) 1 P120 RAS GTPase Activating Protein Capillary Malformation-Arteriovenous Malformation Triphosphatase-Activating Protein GTPase-Activating Protein Ras P21 Protein Activator CMAVM1 RASGAP RasGAP CMAVM PKWS
Location (GRCh38)
5:87267778-87391939
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Postmortem interval inference
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_002890.3
Sequence length
4746.0 nt
GC content
0.4406

Transcripts

ID Sequence Length GC content
NM_002890.3 NCBI
ACUCACUGAGAGCUCCAGGUAGUGAGCAGUUCAGUCGAUUUCCUCGUUA… 4746 nt 0.4406
NM_022650.3 NCBI
AGAAUACGAGGAGGAAGAGGUGGCCAUACCGUUGACCGCUCCUCCAACU… 3757 nt 0.3793
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] CIViC Summary for RASA1 Gene

Forensic Context

A study in mice demonstrated that the RASA1 transcript, a GTPase activator, exhibited increased abundance within the postmortem period [Pozhitkov et al. DOI:10.1098/rsob.160267].