Homo sapiens Gene: DEPDC5
Summary
InnateDB Gene IDBG-4850.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DEPDC5
Gene Name DEP domain containing 5
Synonyms DEP.5; FFEVF
Species Homo sapiens
Ensembl Gene ENSG00000100150
Encoded Proteins
DEP domain containing 5
DEP domain containing 5
DEP domain containing 5
DEP domain containing 5
DEP domain containing 5
DEP domain containing 5
DEP domain containing 5
DEP domain containing 5
DEP domain containing 5
DEP domain containing 5
DEP domain containing 5
DEP domain containing 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 22:31753951-31907034
Strand Forward strand
Band q12.2
Transcripts
ENST00000382112 ENSP00000371546
ENST00000382111 ENSP00000371545
ENST00000400249 ENSP00000383108
ENST00000400248 ENSP00000383107
ENST00000400246 ENSP00000383105
ENST00000400242 ENSP00000383101
ENST00000437411 ENSP00000416314
ENST00000456178 ENSP00000405351
ENST00000458532 ENSP00000412057
ENST00000448753 ENSP00000402173
ENST00000433147 ENSP00000410544
ENST00000469969
ENST00000469974
ENST00000473802
ENST00000462414
ENST00000471914
ENST00000494065
ENST00000490731
ENST00000494060
ENST00000479261
ENST00000497340
ENST00000535622 ENSP00000440210
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 2 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005096 GTPase activator activity
Biological Process
GO:0035556 intracellular signal transduction
GO:0043547 positive regulation of GTPase activity
Cellular Component
GO:0005765 lysosomal membrane
GO:0005829 cytosol
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_001007188 NM_001136029 NM_001242896 NM_001242897 NM_014662 XM_005261862 XM_005261863 XM_005261864 XM_005261866 XM_006724385 XM_006724386 XM_006724387
HUGO
OMIM
CCDS CCDS43006 CCDS43007 CCDS46692 CCDS56229 CCDS74849
HPRD 16795
IMGT
EMBL
GenPept
RNA Seq Atlas