RAS p21 protein activator 1

RASA1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesRASA1, CM-AVM, CMAVM, GAP, PKWS, RASA, RASGAP, p120GAP, p120RASGAP, RAS p21 protein activator 1, p120, CMAVM1
External IDsOMIM: 139150 MGI: 97860 HomoloGene: 2168 GeneCards: RASA1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002890
NM_022650

NM_145452

RefSeq (protein)

NP_002881
NP_072179

NP_663427

Location (UCSC)Chr 5: 87.27 – 87.39 MbChr 13: 85.36 – 85.44 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

RAS p21 protein activator 1 or RasGAP (Ras GTPase activating protein), also known as RASA1, is a 120-kDa cytosolic human protein that provides two principal activities:

  • Inactivation of Ras from its active GTP-bound form to its inactive GDP-bound form by enhancing the endogenous GTPase activity of Ras, via its C-terminal GAP domain
  • Mitogenic signal transmission towards downstream interacting partners through its N-terminal SH2-SH3-SH2 domains

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.[5]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000145715 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021549 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: RASA1 RAS p21 protein activator (GTPase activating protein) 1".