• Gene id: 92104

Gene Summary

• Gene Symbol: TTC30A   Gene   UCSC   Ensembl
• Aliases: FAP259, IFT70A, TTC30B
• Gene name: tetratricopeptide repeat domain 30A
• Alternate names: tetratricopeptide repeat protein 30A, TPR repeat protein 30A, TPR repeat protein 30B, Tetratricopeptide repeat protein 30B,
• Gene location: 2q31.2 (177618741: 177612998)     Exons: 1     NC_000002.12

Protein Summary

• Protein general information: Q86WT1  
  • Name: Tetratricopeptide repeat protein 30A (TPR repeat protein 30A)
  • Length: 665  
  • Mass: 76136
• Sequence:

  MAGLSGAQIPDGEFTALVYRLIRDARYAEAVQLLGRELQRSPRSRAGLSLLGYCYYRLQEFALAAECYEQLGQLH
  PELEQYRLYQAQALYKACLYPEATRVAFLLLDNPAYHSRVLRLQAAIKYSEGDLPGSRSLVEQLLSGEGGEESGG
  DNETDGQVNLGCLLYKEGQYEAACSKFSATLQASGYQPDLSYNLALAYYSSRQYASALKHIAEIIERGIRQHPEL
  GVGMTTEGFDVRSVGNTLVLHQTALVEAFNLKAAIEYQLRNYEVAQETLTDMPPRAEEELDPVTLHNQALMNMDA
  RPTEGFEKLQFLLQQNPFPPETFGNLLLLYCKYEYFDLAADVLAENAHLTYKFLTPYLYDFLDALITCQTAPEEA
  FIKLDGLAGMLTEQLRRLTKQVQEARHNRDDEAIKKAVNEYDETMEKYIPVLMAQAKIYWNLENYPMVEKVFRKS
  VEFCNDHDVWKLNVAHVLFMQENKYKEAIGFYEPIVKKHYDNILNVSAIVLANLCVSYIMTSQNEEAEELMRKIE
  KEEEQLSYDDPNRKMYHLCIVNLVIGTLYCAKGNYEFGISRVIKSLEPYNKKLGTDTWYYAKRCFLSLLENMSKH
  MIVIHDSVIQECVQFLGHCELYGTNIPAVIEQPLEEERMHVGKNTVTDESRQLKALIYEIIGWNK

• Structural information:
  • Interpro: IPR013026  IPR011990  IPR019734  IPR039941  
  • Prosite: PS50293
  • STRING: ENSP00000347915
• Other Databases: GeneCards:  TTC30A  Malacards:  TTC30A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005879	axonemal microtubule	IBA	cellular component
GO:0036064	ciliary basal body	IBA	cellular component
GO:0042073	intraciliary transport	IBA	biological process
GO:0030992	intraciliary transport particle B	IBA	cellular component
GO:0120170	intraciliary transport particle B binding	IBA	molecular function
GO:0030030	cell projection organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005929	cilium	IEA	cellular component

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