• Gene id: 79774

Gene Summary

• Gene Symbol: GRTP1   Gene   UCSC   Ensembl
• Aliases: TBC1D6
• Gene name: growth hormone regulated TBC protein 1
• Alternate names: growth hormone-regulated TBC protein 1, TBC1 domain family member 6,
• Gene location: 13q34 (113364157: 113323251)     Exons: 11     NC_000013.11
• OMIM: 605327

Protein Summary

• Protein general information: Q5TC63  
  • Name: Growth hormone regulated TBC protein 1 (TBC1 domain family member 6)
  • Length: 336  
  • Mass: 38554
• Sequence:

  MQPAERSRVPRIDPYGFERPEDFDDAAYEKFFSSYLVTLTRRAIKWSRLLQGGGVPRSRTVKRYVRKGVPLEHRA
  RVWMVLSGAQAQMDQNPGYYHQLLQGERNPRLEDAIRTDLNRTFPDNVKFRKTTDPCLQRTLYNVLLAYGHHNQG
  VGYCQGMNFIAGYLILITNNEEESFWLLDALVGRILPDYYSPAMLGLKTDQEVLGELVRAKLPAVGALMERLGVL
  WTLLVSRWFICLFVDILPVETVLRIWDCLFNEGSKIIFRVALTLIKQHQELILEATSVPDICDKFKQITKGSFVM
  ECHTFMQKIFSEPGSLSMATVAKLRESCRARLLAQG

• Structural information:
  • Protein Domains: (68..25-)
    (/note="Rab-GAP-TBC)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00163"-)
  • Interpro: IPR000195  IPR035969  
  • Prosite: PS50086
  • STRING: ENSP00000364579
• Other Databases: GeneCards:  GRTP1  Malacards:  GRTP1

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:0005096	GTPase activator activity	IEA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq