BC057797
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
177,910 Da
NCBI Official Full Name
Homo sapiens DEP domain containing 5, mRNA
NCBI Official Synonym Full Names
DEP domain containing 5
NCBI Official Synonym Symbols
NCBI Protein Information
DEP domain-containing protein 5
UniProt Protein Name
DEP domain-containing protein 5
UniProt Synonym Gene Names
UniProt Entry Name
DEPD5_HUMAN
NCBI Summary for DEPDC5
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]
UniProt Comments for DEPDC5
DEPDC5: Belongs to the IML1 family. 8 isoforms of the human protein are produced by alternative splicing.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 22q12.3
Cellular Component: cytosol; lysosomal membrane; lysosome; perinuclear region of cytoplasm
Molecular Function: GTPase activator activity; protein complex binding
Biological Process: cellular response to amino acid starvation; negative regulation of TOR signaling pathway
Disease: Epilepsy, Familial Focal, With Variable Foci
Research Articles on DEPDC5
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Diseases associated with DEPDC5 cdna clone
Organs/Tissues associated with DEPDC5 cdna clone
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