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Ras P21 Protein Activator 1 OKDB#: 3259
 Symbols: RASA1 Species: human
 Synonyms: GAP, PKWS, RASA, CMAVM, RASGAP, p120GAP, DKFZp434N071,GUANOSINE TRIPHOSPHATASE-ACTIVATING PROTEIN|GTPase-ACTIVATING PROTEIN, GAP  Locus: 5q13.3 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI 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. 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.
General function Intracellular signaling cascade, Cell proliferation, Metabolism
Comment
Cellular localization Cytoplasmic
Comment
Ovarian function Oogenesis, Oocyte maturation
Comment Gene whose expression is detected by cDNA array hybridization: GDP/GTP exchangers, GTPase stimulators and inhibitors, apoptosis. Also, relative transcript level reproducibly increases during IVM Rozenn Dalbis-Tran and Pascal Mermilloda
Expression regulated by
Comment
Ovarian localization
Comment
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: June 22, 2006, 1:46 p.m. by: alex   email:
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last update: July 26, 2006, 11:09 a.m. by: Alex    email:



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