• Gene id: 85016

Gene Summary

• Gene Symbol: CFAP300   Gene   UCSC   Ensembl
• Aliases: C11orf70, CILD38, FBB5
• Gene name: cilia and flagella associated protein 300
• Alternate names: cilia- and flagella-associated protein 300, uncharacterized protein C11orf70,
• Gene location: 11q22.1 (102047408: 102084559)     Exons: 7     NC_000011.10
• OMIM: 618058

Protein Summary

• Protein general information: Q9BRQ4  
  • Name: Cilia and flagella associated protein 300
  • Length: 267  
  • Mass: 30859
  • Tissue specificity: Expressed in nasal epithelial cells. {ECO
• Sequence:

  MATGELGDLGGYYFRFLPQKTFQSLSSKEITSRLRQWSMLGRIKAQAFGFDQTFQSYRKDDFVMAFFKDPNVIPN
  LKLLSDSSGQWIILGTEVKKIEAINVPCTQLSMSFFHRLYDEDIVRDSGHIVKCLDSFCDPFLISDELRRVLLVE
  DSEKYEIFSQPDREEFLFCLFKHLCLGGALCQYEDVISPYLETTKLIYKDLVSVRKNPQTKKIQITSSVFKVSAY
  DSAGMCYPSAKNHEQTFSYFIVDPIRRHLHVLYHCYGVGDMS

• Structural information:
  • Interpro: IPR029416  
  • STRING: ENSP00000414390
• Other Databases: GeneCards:  CFAP300  Malacards:  CFAP300

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0031514	motile cilium	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Primary ciliary dyskinesia	KEGG:H00564
Primary ciliary dyskinesia	KEGG:H00564
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R