• Gene id: 55296

Gene Summary

• Gene Symbol: TBC1D19   Gene   UCSC   Ensembl
• Gene name: TBC1 domain family member 19
• Alternate names: TBC1 domain family member 19,
• Gene location: 4p15.2 (26583923: 26858918)     Exons: 33     NC_000004.12

Protein Summary

• Protein general information: Q8N5T2  
  • Name: TBC1 domain family member 19
  • Length: 526  
  • Mass: 60208
• Sequence:

  MLQEESDLSLIIAQIVQKLKGSNLYSQLERQAWASLQRPEIKLESLKEDIKEFFKISGWEKKLQNAVYSELSVFP
  LPSHPAAPPEHLKEPLVYMRKAQGSWEKRILKSLNSMCTELSIPLARKRPVGEQKELLNKWNEMGTDEPDLSLFR
  PVYAPKDFLEVLINLRNPNYENGDSLSFRTHLGLIQVPLKVKDIPELKECFVELGLNIGQLGIDDSTQVPPELFE
  NEHVRIGQKVLAEQDSAAAQQYIRQGSPTALRAELWALILNISSQPEDVLYYEQLKTNVIQHDLLVDSLIYKDVK
  LTASNDDYYFVFEDYLYQVLLCFSRDTSVLSHFAFNSASPPKSYIRGKLGLEEYAVFYPPNGVIPFHGFSMYVAP
  LCFLYHEPSKLYQIFREMYVRFFFRLHSISSHPSGIVSLCLLFETLLQTYLPQLFYHLREIGAQPLRISFKWMVR
  AFSGYLATDQLLLLWDRILGYNSLEILAVLAAAVFAFRAVNLMEVTSLAAAEAVLADLSTLKVMPLLQIFLFATV
  T

• Structural information:
  • Protein Domains: (251..47-)
    (/note="Rab-GAP-TBC)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00163"-)
  • Interpro: IPR000195  IPR035969  IPR042507  
  • Prosite: PS50086
  • STRING: ENSP00000264866
• Other Databases: GeneCards:  TBC1D19  Malacards:  TBC1D19

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:1902017	regulation of cilium assembly	IMP	NOT|biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881