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Immunogen sequence: YDAQVFRLPG PSRAQCLTTC RSVRERESHS RKSASSCDVS SSPSLPSRTL PTEEVRSQAS DDSSLGKSAN ILMIPHPHLH QYEVSSS
Highest antigen sequence identity to the following orthologs: Mouse - 92%, Rat - 91%.
This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: DEP domain-containing protein 5; DEPD5; GATOR1 complex protein DEPDC5
Gene Aliases: DEP.5; DEPDC5; FFEVF; KIAA0645
UniProt ID: (Human) O75140
Entrez Gene ID: (Human) 9681
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