• Gene id: 257177

Gene Summary

• Gene Symbol: CFAP126   Gene   UCSC   Ensembl
• Aliases: C1orf192, Flattop, Fltp
• Gene name: cilia and flagella associated protein 126
• Alternate names: protein Flattop, UPF0740 protein C1orf192,
• Gene location: 1q23.3 (161367875: 161364732)     Exons: 11     NC_000001.11
• OMIM: 616119

Protein Summary

• Protein general information: Q5VTH2  
  • Name: Protein Flattop (Cilia and flagella associated protein 126)
  • Length: 177  
  • Mass: 19293
• Sequence:

  MATNYSANQYEKAFSSKYLQNWSPTKPTKESISSHEGYTQIIANDRGHLLPSVPRSKANPWGSFMGTWQMPLKIP
  PARVTLTSRTTAGAASLTKWIQKNPDLLKASNGLCPEILGKPHDPDSQKKLRKKSITKTVQQARSPTIIPSSPAA
  NLNSPDELQSSHPSAGHTPGPQRPAKS

• Structural information:
  • Interpro: IPR038797  
  • STRING: ENSP00000356951
• Other Databases: GeneCards:  CFAP126  Malacards:  CFAP126

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036064	ciliary basal body	IBA	cellular component
GO:0044782	cilium organization	IBA	biological process
GO:0036064	ciliary basal body	ISS	cellular component
GO:0005929	cilium	ISS	cellular component
GO:0016324	apical plasma membrane	ISS	cellular component
GO:0044782	cilium organization	ISS	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0036064	ciliary basal body	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0044782	cilium organization	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005929	cilium	IEA	cellular component

Diseases

Associated diseases	References
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)