• Gene id: 79735

Gene Summary

• Gene Symbol: TBC1D17   Gene   UCSC   Ensembl
• Gene name: TBC1 domain family member 17
• Alternate names: TBC1 domain family member 17,
• Gene location: 19q13.33 (49877530: 49888749)     Exons: 18     NC_000019.10
• OMIM: 615055

Protein Summary

• Protein general information: Q9HA65  
  • Name: TBC1 domain family member 17
  • Length: 648  
  • Mass: 72728
• Sequence:

  MEGAGYRVVFEKGGVYLHTSAKKYQDRDSLIAGVIRVVEKDNDVLLHWAPVEEAGDSTQILFSKKDSSGGDSCAS
  EEEPTFDPDYEPDWAVISTVRPQLCHSEPTRGAEPSCPQGSWAFSVSLGELKSIRRSKPGLSWAYLVLVTQAGGS
  LPALHFHRGGTRALLRVLSRYLLLASSPQDSRLYLVFPHDSSALSNSFHHLQLFDQDSSNVVSRFLQDPYSTTFS
  SFSRVTNFFRGALQPQPEGAASDLPPPPDDEPEPGFEVISCVELGPRPTVERGPPVTEEEWARHVGPEGRLQQVP
  ELKNRIFSGGLSPSLRREAWKFLLGYLSWEGTAEEHKAHIRKKTDEYFRMKLQWKSVSPEQERRNSLLHGYRSLI
  ERDVSRTDRTNKFYEGPENPGLGLLNDILLTYCMYHFDLGYVQGMSDLLSPILYVIQNEVDAFWCFCGFMELVQG
  NFEESQETMKRQLGRLLLLLRVLDPLLCDFLDSQDSGSLCFCFRWLLIWFKREFPFPDVLRLWEVLWTGLPGPNL
  HLLVACAILDMERDTLMLSGFGSNEILKHINELTMKLSVEDVLTRAEALHRQLTACPELPHNVQEILGLAPPAEP
  HSPSPTASPLPLSPTRAPPTPPPSTDTAPQPDSSLEILPEEEDEGADS

• Structural information:
  • Protein Domains: (310..52-)
    (/note="Rab-GAP-TBC)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00163"-)
  • Interpro: IPR000195  IPR035969  IPR021935  
  • Prosite: PS50086
  • STRING: ENSP00000221543
• Other Databases: GeneCards:  TBC1D17  Malacards:  TBC1D17

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090630	activation of GTPase activity	IBA	biological process
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0006886	intracellular protein transport	IBA	biological process
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0006914	autophagy	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0055037	recycling endosome	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005776	autophagosome	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0042147	retrograde transport, endosome to Golgi	IMP	biological process
GO:1902017	regulation of cilium assembly	IMP	NOT|biological process

KEGG pathways

Pathway id	Pathway name
hsa04137	Mitophagy - animal

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq