Homo sapiens Protein: TBC1D17
Summary
InnateDB Protein IDBP-63708.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TBC1D17
Protein Name TBC1 domain family, member 17
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000221543
InnateDB Gene IDBG-63706 (TBC1D17)
Protein Structure
UniProt Annotation
Function Probable GTPase-activating protein for Rab8; its transient association with Rab8 is mediated by OPTN. Inhibits Rab8-mediated endocytic trafficking, such as of transferrin receptor (TfR) and reduces Rab8 recruitnment to tubules emanating from the endocytic recycling compartment (ERC). Involved in regulation of autophagy. Mediates inhibition of autophagy caused by the OPTN variant GLC1E LYS-50; the function requires its catalytic activity, however, the involved Rab is not known. {ECO:0000269PubMed:22854040, ECO:0000269PubMed:24752605}.
Subcellular Localization Cytoplasmic vesicle, autophagosome {ECO:0000269PubMed:24752605}.
Disease Associations
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 32 experimentally validated interaction(s) in this database.
Experimentally validated
Total 32 [view]
Protein-Protein 30 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005097 Rab GTPase activator activity
Biological Process
GO:0032313 regulation of Rab GTPase activity
GO:0032851 positive regulation of Rab GTPase activity
Cellular Component
Protein Structure and Domains
PDB ID
InterPro IPR000195 Rab-GTPase-TBC domain
IPR021935 Domain of unknown function DUF3548
PFAM PF00566
PF12068
PRINTS
PIRSF
SMART SM00164
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9HA65
PhosphoSite PhosphoSite-Q9HA65
TrEMBL Q96RQ7
UniProt Splice Variant
Entrez Gene 79735
UniGene Hs.631587
RefSeq NP_078958
HUGO HGNC:25699
OMIM
CCDS CCDS12785
HPRD 15471
IMGT
EMBL AB449903 AC118341 AC118342 AF293463 AK022230 AK300007 BC003516
GenPept AAH03516 AAK73364 BAB13991 BAG61824 BAH16646