• Gene id: 80127

Gene Summary

• Gene Symbol: BBOF1   Gene   UCSC   Ensembl
• Aliases: C14orf45, CCDC176, FBB10
• Gene name: basal body orientation factor 1
• Alternate names: basal body-orientation factor 1, coiled-coil domain containing 176, coiled-coil domain-containing protein 176,
• Gene location: 14q24.3 (28800571: 28794559)     Exons: 6     NC_000022.11

Protein Summary

• Protein general information: Q8ND07  
  • Name: Basal body orientation factor 1 (Coiled coil domain containing protein 176)
  • Length: 529  
  • Mass: 61987
• Sequence:

  MPSKGKDKKKGKSKGKDTKKLIKTDESVVDRAKANASLWEARLEVTELSRIKYRDTSRILAKSNEDLKKKQCKME
  KDIMSVLSYLKKQDQEKDNMIEKLKQQLNETKEKAQEEKDKLEQKYTRQINELEGQFHQKAKEIGMIHTELKAVR
  QFQKRKIQVERELDDLKENLRNTERIHQETLRRLESRFFEEKHRLEQEAEKKIIMLAERAHHEAIVQLNDAGRNV
  FKENDYLQKALAYHLKETDALQKNSQKLQESHTLLLHQKEINDLLVKEKIMQLVQQRSQIQTLQKKVVNLETALS
  YMTKEFESEVLKLQQHAMIENQAGQVEIDKLQHLLQMKDREMNRVKKLAKNILDERTEVERFFLDALHQVKQQIL
  ISRKHYKQIAQAAFNLKMRAACTGRTEYPKIRTFDGREHSTNSVNQDLLEAEKWTHIEGNVDIGDLTWEQKEKVL
  RLLFAKMNGCPSRKYNQSSRPPVPDYVVSDSGETKEFGDESKLQDKIFITQQIAISDSSGEVVLPTIPKEPQESD
  TGTF

• Structural information:
  • Interpro: IPR029582  IPR032777  
  • STRING: ENSP00000377577
• Other Databases: GeneCards:  BBOF1  Malacards:  BBOF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036064	ciliary basal body	ISS	cellular component
GO:0044458	motile cilium assembly	ISS	biological process
GO:0036064	ciliary basal body	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component

Diseases

Associated diseases	References
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)