InnateDB Protein
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IDBP-228623.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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DEPDC5
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Protein Name
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DEP domain containing 5
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Synonyms
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DEP.5; FFEVF;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000383105
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InnateDB Gene
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IDBG-4850 (DEPDC5)
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Protein Structure
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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}.
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Subcellular Localization |
Cytoplasm, cytosol {ECO:0000250}. Cytoplasm, perinuclear region {ECO:0000250}.
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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}.
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Tissue Specificity |
Expressed in developing and adult brain. {ECO:0000269PubMed:23542701}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
3
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0005096
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GTPase activator activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000591
DEP domain
IPR027244
Vacuolar membrane-associated protein Iml1
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PFAM |
PF00610
PF12257
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PRINTS |
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PIRSF |
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SMART |
SM00049
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TIGRFAMs |
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Modification |
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SwissProt |
O75140
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PhosphoSite |
PhosphoSite-O75140
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TrEMBL |
C9JGS4
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UniProt Splice Variant |
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Entrez Gene |
9681
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UniGene |
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RefSeq |
NP_001229825
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HUGO |
HGNC:18423
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OMIM |
614191
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CCDS |
CCDS74849
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HPRD |
16795
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IMGT |
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EMBL |
AB014545
AC005004
AJ698950
AJ698951
AJ704764
AK294583
AK294987
AK316364
AL022331
BC057797
BC136612
BC146766
BX640828
CH471095
CR749304
Z82190
Z83856
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GenPept |
AAD08635
AAH57797
AAI36613
AAI46767
BAA31620
BAG57774
BAG58054
BAH14735
CAE45904
CAG27889
CAG27890
CAG28924
CAH18159
CAI17972
CAI17973
CAI17974
CAI17975
CAI17976
CAI18776
CAI18777
CAI18778
CAI18779
CAI19696
CAI19697
CAI19698
CAI19699
EAW59996
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