DEPDC5 wt Allele

Preferred Label : DEPDC5 wt Allele;

NCIt synonyms : DEP Domain Containing 5 wt Allele; FFEVF; DEP.5; FFEVF1; KIAA0645;

NCIt definition : Human DEPDC5 wild-type allele is located within 22q12.2-q12.3 and is approximately 153 kb in length. This allele, which encodes GATOR complex protein DEPDC5, is involved in the modulation of signaling by Ras-related GTP-binding proteins. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci and with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection.;

NCIt note : This gene encodes a subunit of the GATOR1 (GAP Activity TOward Rags 1) complex, which inhibits the amino acid-sensing branch of the mTORC1 pathway.;

NCI Metathesaurus CUI : CL550935;

GenBank Accession Number : AB014545;

Details

Origin ID

C148376;

UMLS CUI

C4723650;

Automatic exact mappings (from CISMeF team)
- DEP domain containing 5, GATOR1 subcomplex subunit [ORDO Gene]
- Dep domain-containing protein 5 [OMIM gene]
- Epilepsy, familial focal, with variable foci 1 [OMIM Phenotype]
- Familial focal epilepsy with variable foci [ORDO Disease]
- Familial focal epilepsy with variable foci (disorder) [SNOMED CT concept]
- hyperlipoproteinemia type i [MeSH Descriptor]
OMIM relation
- Dep domain-containing protein 5 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- mTOR Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Autophagy [NCIt concept]
- Signal Transduction [NCIt concept]
- Signal Transduction Induction [NCIt concept]
- Stress Response Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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