| DEP domain containing 5 | OKDB#: 5090 |
| Symbols: | DEPDC5 | Species: | human | ||
| Synonyms: | DEP.5, FFEVF | Locus: | 22q12.3 in Homo sapiens |
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Entrez Gene
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| General Comment | NCBI Summary: 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. [provided by RefSeq, Mar 2014] | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | Jan. 21, 2015, 1:23 p.m. | by: |
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| last update: | Jan. 21, 2015, 1:23 p.m. | by: | system email: |
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