InnateDB Protein
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IDBP-63708.6
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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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TBC1D17
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Protein Name
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TBC1 domain family, member 17
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000221543
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InnateDB Gene
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IDBG-63706 (TBC1D17)
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Protein Structure
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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}.
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Subcellular Localization |
Cytoplasmic vesicle, autophagosome {ECO:0000269PubMed:24752605}.
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Disease Associations |
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Tissue Specificity |
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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 32 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
32
[view]
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Protein-Protein |
30
[view]
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Protein-DNA |
2
[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:0005097
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Rab 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 |
IPR000195
Rab-GTPase-TBC domain
IPR021935
Domain of unknown function DUF3548
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PFAM |
PF00566
PF12068
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PRINTS |
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PIRSF |
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SMART |
SM00164
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TIGRFAMs |
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Modification |
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SwissProt |
Q9HA65
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PhosphoSite |
PhosphoSite-Q9HA65
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TrEMBL |
Q96RQ7
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UniProt Splice Variant |
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Entrez Gene |
79735
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UniGene |
Hs.631587
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RefSeq |
NP_078958
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HUGO |
HGNC:25699
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OMIM |
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CCDS |
CCDS12785
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HPRD |
15471
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IMGT |
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EMBL |
AB449903
AC118341
AC118342
AF293463
AK022230
AK300007
BC003516
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GenPept |
AAH03516
AAK73364
BAB13991
BAG61824
BAH16646
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