• Gene id: 125058

Gene Summary

• Gene Symbol: TBC1D16   Gene   UCSC   Ensembl
• Gene name: TBC1 domain family member 16
• Alternate names: TBC1 domain family member 16, CTD-2529O21.1,
• Gene location: 17q25.3 (80035874: 79932342)     Exons: 17     NC_000017.11

Protein Summary

• Protein general information: Q8TBP0  
  • Name: TBC1 domain family member 16
  • Length: 767  
  • Mass: 86372
• Sequence:

  MSLGRLLRRASSKASDLLTLTPGGSGSGSPSVLDGEIIYSKNNVCVHPPEGLQGLGEHHPGYLCLYMEKDEMLGA
  TLILAWVPNSRIQRQDEEALRYITPESSPVRKAPRPRGRRTRSSGASHQPSPTELRPTLTPKDEDILVVAQSVPD
  RMLASPAPEDEEKLAQGLGVDGAQPASQPACSPSGILSTVSPQDVTEEGREPRPEAGEEDGSLELSAEGVSRDSS
  FDSDSDTFSSPFCLSPISAALAESRGSVFLESDSSPPSSSDAGLRFPDSNGLLQTPRWDEPQRVCALEQICGVFR
  VDLGHMRSLRLFFSDEACTSGQLVVASRESQYKVFHFHHGGLDKLSDVFQQWKYCTEMQLKDQQVAPDKTCMQFS
  IRRPKLPSSETHPEESMYKRLGVSAWLNHLNELGQVEEEYKLRKAIFFGGIDVSIRGEVWPFLLRYYSHESTSEE
  REALRLQKRKEYSEIQQKRLSMTPEEHRAFWRNVQFTVDKDVVRTDRNNQFFRGEDNPNVESMRRILLNYAVYNP
  AVGYSQGMSDLVAPILAEVLDESDTFWCFVGLMQNTIFVSSPRDEDMEKQLLYLRELLRLTHVRFYQHLVSLGED
  GLQMLFCHRWLLLCFKREFPEAEALRIWEACWAHYQTDYFHLFICVAIVAIYGDDVIEQQLATDQMLLHFGNLAM
  HMNGELVLRKARSLLYQFRLLPRIPCSLHDLCKLCGSGMWDSGSMPAVECTGHHPGSESCPYGGTVEMPSPKSLR
  EGKKGPKTPQDGFGFRR

• Structural information:
  • Protein Domains: (425..63-)
    (/note="Rab-GAP-TBC)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00163"-)
  • Interpro: IPR000195  IPR035969  
  • Prosite: PS50086
  • STRING: ENSP00000309794
• Other Databases: GeneCards:  TBC1D16  Malacards:  TBC1D16

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0090630	activation of GTPase activity	IBA	biological process
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0005769	early endosome	IBA	cellular component
GO:0006886	intracellular protein transport	IBA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0001919	regulation of receptor recycling	IDA	biological process
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:1902017	regulation of cilium assembly	IMP	NOT|biological process

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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq