• Gene id: 79846

Gene Summary

• Gene Symbol: CFAP69   Gene   UCSC   Ensembl
• Aliases: C7orf63, FAP69, SPGF24
• Gene name: cilia and flagella associated protein 69
• Alternate names: cilia- and flagella-associated protein 69,
• Gene location: 7q21.13 (90245173: 90320963)     Exons: 34     NC_000007.14
• OMIM: 617949

Protein Summary

• Protein general information: A5D8W1  
  • Name: Cilia and flagella associated protein 69
  • Length: 941  
  • Mass: 105883
  • Tissue specificity: Highly expressed in the testis, specifically in sperm (at protein level) (PubMed
• Sequence:

  MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFKPMDLNRVIKLLEETDKDGLEEKQLKFVKKLV
  QCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLCGLPFLKKKVSDEITYAEDTANSIALLGDLMKI
  PSSELRIQICKCIVDFYHAEPPKKHIPGYQQASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVLKVLQHLS
  TSEVNCTIMMKAQAASGICTHLNDPDPSGQLLFRSSEILWNLLEKSSKEEVIQQLSNLECLLALKEVFKNLFMRG
  FSHYDRQLRNDILVITTIIAQNPEAPMIECGFTKDLILFATFNEVKSQNLLVKGLKLSNSYEDFELKKLLFNVIV
  ILCKDLPTVQLLIDGKVILALFTYVKKPEKQKIIDWSAAQHEELQLHAIATLSSVAPLLIEEYMSCQGNARVLAF
  LEWCESEDPFFSHGNSFHGTGGRGNKFAQMRYSLRLLRAVVYLEDETVNKDLCEKGTIQQMIGIFKNIISKPNEK
  EEAIVLEIQSDILLILSGLCENHIQRKEIFGTEGVDIVLHVMKTDPRKLQSGLGYNVLLFSTLDSIWCCILGCYP
  SEDYFLEKEGIFLLLDLLALNQKKFCNLILGIMVEFCDNPKTAAHVNAWQGKKDQTAASLLIKLWRKEEKELGVK
  RDKNGKIIDTKKPLFTSFQEEQKIIPLPANCPSIAVMDVSENIRAKIYAILGKLDFENLPGLSAEDFVTLCIIHR
  YLDFKIGEIWNEIYEEIKLEKLRPVTTDKKALEAITTASENIGKMVASLQSDIIESQACQDMQNEQKVYAKIQAT
  HKQRELANKSWEDFLARTSNAKTLKKAKSLQEKAIEASRYHKRPQNAIFHQTHIKGLNTTVPSGGVVTVESTPAR
  LVGGPLVDTDIALKKLPIRGGALQRVKAVKIVDAPKKSIPT

• Structural information:
  • Interpro: IPR011989  IPR016024  
  • STRING: ENSP00000373948
• Other Databases: GeneCards:  CFAP69  Malacards:  CFAP69

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097225	sperm midpiece	IBA	cellular component
GO:0097730	non-motile cilium	IBA	cellular component
GO:1990834	response to odorant	IBA	biological process
GO:0042048	olfactory behavior	IBA	biological process
GO:1902093	positive regulation of flagellated sperm motility	IBA	biological process
GO:0097225	sperm midpiece	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:1905516	positive regulation of fertilization	ISS	biological process
GO:1902093	positive regulation of flagellated sperm motility	ISS	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0007608	sensory perception of smell	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:1990834	response to odorant	IEA	biological process
GO:1905516	positive regulation of fertilization	IEA	biological process
GO:0097730	non-motile cilium	IEA	cellular component
GO:1902093	positive regulation of flagellated sperm motility	IEA	biological process
GO:0042048	olfactory behavior	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0042048	olfactory behavior	ISS	biological process
GO:1990834	response to odorant	ISS	biological process
GO:0097730	non-motile cilium	ISS	cellular component

Diseases

Associated diseases	References
Spermatogenic failure	KEGG:H01282
Spermatogenic failure	KEGG:H01282
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Multiple morphological abnormalities of the flagella (MMAF)	MIK: 29606301
Asthenoteratozoospermia	MIK: 29606301
Male infertility	MIK: 29606301
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
29606301	Multiple morphological abnormalities of the flagella (MMAF), Asthenoteratozoospermia, Male infertility	c.860+1G>A, c.763C>T	Iran, N orth Af rica	78 MMAF-affected individuals	Male infertility	NGS
30415212	Asthenoteratospermia with multiple morphological abnormalities of the sperm flagella	p.Leu357Hisfs*11, p.Trp216*	Han Chi nese	1family , 34 individuals with MMAF	Male infertility	NGS
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray