• Gene id: 57533

Gene Summary

• Gene Symbol: TBC1D14   Gene   UCSC   Ensembl
• Gene name: TBC1 domain family member 14
• Alternate names: TBC1 domain family member 14,
• Gene location: 4p16.1 (6909443: 7033117)     Exons: 22     NC_000004.12
• OMIM: 612013

Protein Summary

• Protein general information: Q9P2M4  
  • Name: TBC1 domain family member 14
  • Length: 693  
  • Mass: 78137
• Sequence:

  MTDGKLSTSTNGVAFMGILDGRPGNPLQNLQHVNLKAPRLLSAPEYGPKLKLRALEDRHSLQSVDSGIPTLEIGN
  PEPVPCSAVHVRRKQSDSDLIPERAFQSACALPSCAPPAPSSTEREQSVRKSSTFPRTGYDSVKLYSPTSKALTR
  SDDVSVCSVSSLGTELSTTLSVSNEDILDLVVTSSSSAIVTLENDDDPQFTNVTLSSIKETRGLHQQDCVHEAEE
  GSKLKILGPFSNFFARNLLARKQSARLDKHNDLGWKLFGKAPLRENAQKDSKRIQKEYEDKAGRPSKPPSPKQNV
  RKNLDFEPLSTTALILEDRPANLPAKPAEEAQKHRQQYEEMVVQAKKRELKEAQRRKKQLEERCRVEESIGNAVL
  TWNNEILPNWETMWCSRKVRDLWWQGIPPSVRGKVWSLAIGNELNITHELFDICLARAKERWRSLSTGGSEVENE
  DAGFSAADREASLELIKLDISRTFPNLCIFQQGGPYHDMLHSILGAYTCYRPDVGYVQGMSFIAAVLILNLDTAD
  AFIAFSNLLNKPCQMAFFRVDHGLMLTYFAAFEVFFEENLPKLFAHFKKNNLTPDIYLIDWIFTLYSKSLPLDLA
  CRIWDVFCRDGEEFLFRTALGILKLFEDILTKMDFIHMAQFLTRLPEDLPAEELFASIATIQMQSRNKKWAQVLT
  ALQKDSREMEKGSPSLRH

• Structural information:
  • Protein Domains: (401..61-)
    (/note="Rab-GAP-TBC)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00163"-)
  • Interpro: IPR000195  IPR035969  
  • Prosite: PS50086
  • PDB: 2QQ8
  • PDBsum: 2QQ8
  • STRING: ENSP00000386921
• Other Databases: GeneCards:  TBC1D14  Malacards:  TBC1D14

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2000785	regulation of autophagosome assembly	IBA	biological process
GO:0090630	activation of GTPase activity	IBA	biological process
GO:0055037	recycling endosome	IBA	cellular component
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0006886	intracellular protein transport	IBA	biological process
GO:0005776	autophagosome	IBA	cellular component
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0055037	recycling endosome	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:2000785	regulation of autophagosome assembly	IMP	biological process
GO:0005776	autophagosome	IDA	cellular component
GO:0010507	negative regulation of autophagy	IMP	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0055037	recycling endosome	IDA	cellular component
GO:1902017	regulation of cilium assembly	IMP	NOT|biological process
GO:0071955	recycling endosome to Golgi transport	IMP	biological process

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