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FLASH GENE
Symbol TBC1D17 contributors: mct - updated : 24-10-2014
HGNC name TBC1 domain family, member 17
HGNC id 25699
Location 19q13.33      Physical location : 50.380.681 - 50.392.006
DNA
TYPE
STRUCTURE 11.32 kb     17 Exon(s)
MAPPING cloned Y linked   status
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
17 - 2390 - 648 - 2012 22854040
- - 2299 - 615 - 2012 22854040
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
CATEGORY
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytosolic,vesicle
basic FUNCTION
  • is required for direct interaction with optineurin
  • through its catalytic activity, TBC1D17 inhibits recruitment of RAB8A to the tubules and reduces colocalisation of transferrin receptor and RAB8A
  • TBC1D15 and TBC1D17 mediate proper autophagic encapsulation of mitochondria by regulating RAB7A activity at the interface between mitochondria and isolation membranes
  • localized to autophagosomes and inhibited autophagy flux dependent on its catalytic activity
  • GTPase-activating protein for RAB GTPases, playing a crucial role in mutant OPTN E50K-induced impaired autophagy and cell death
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • TBC1D17, also participates in mitophagy and forms homodimers and heterodimers with TBC1D15
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • Rab GTPase-activating protein, through its catalytic activity, regulating RAB8A-mediated endocytic trafficking of transferrin receptor
  • OPTN mediates the interaction and colocalisation of TBC1D17 with RAB8A
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS