InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DEPDC5

Summary

InnateDB Protein

IDBP-228621.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DEPDC5

Protein Name

DEP domain containing 5

Synonyms

DEP.5; FFEVF;

Species

Homo sapiens

Ensembl Protein

ENSP00000383107

InnateDB Gene

IDBG-4850 (DEPDC5)

Protein Structure

UniProt Annotation

Function

As a component of the GATOR1 complex, inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC- containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. {ECO:0000269PubMed:23723238}.

Subcellular Localization

Cytoplasm, cytosol {ECO:0000250}. Cytoplasm, perinuclear region {ECO:0000250}.

Disease Associations

Epilepsy, familial focal, with variable foci (FFEVF) [MIM:604364]: An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions in different family members. Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization. Some patients show abnormal interictal EEG, and some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. Penetrance of the disorder is incomplete. {ECO:0000269PubMed:23542697, ECO:0000269PubMed:23542701}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Inactivating mutations and truncating deletions in the genes encoding GATOR1 proteins, including DEPDC5, are detected in glioblastoma and ovarian tumors and are associated with loss of heterozygosity events. Inactivation of GATOR1 proteins promotes constitutive localization of mTORC1 to the lysosomal membrane and blocks mTORC1 inactivation following amino acid withdrawal (PubMed:23723238). {ECO:0000269PubMed:23723238}.

Tissue Specificity

Expressed in developing and adult brain. {ECO:0000269PubMed:23542701}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.