• Gene id: 255101

Gene Summary

• Gene Symbol: CFAP65   Gene   UCSC   Ensembl
• Aliases: CCDC108, SPGF40
• Gene name: cilia and flagella associated protein 65
• Alternate names: cilia- and flagella-associated protein 65, coiled-coil domain containing 108,
• Gene location: 2q35 (219043141: 219002845)     Exons: 36     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. The chicken ortholog of this gene is involved in the Rose-comb mutation, which is a large chromosome inversion, resulting in altered comb morphology and
• OMIM: 614270

Protein Summary

• Protein general information: Q6ZU64  
  • Name: Cilia and flagella associated protein 65 (Coiled coil domain containing protein 108)
  • Length: 1925  
  • Mass: 217250
• Sequence:

  MFTLTGCRLVEKTQKVENPSVSFASSFPLIPLLLRGKSVQKKQAESKSQIKLHTQSAPFGLCPKDMMLTQAPSSV
  VRSRNSRNHTVNSGGSCLSASTVAIPAINDSSAAMSACSTISAQPASSMDTQMHSPKKQERVNKRVIWGIEVAEE
  LHWKGWELGKETTRNLVLKNRSLKLQKMKYRPPKTKFFFTVIPQPIFLSPGITLTLPIVFRPLEAKEYMDQLWFE
  KAEGMFCVGLRATLPCHRLICRPPSLQLPMCAVGDTTEAFFCLDNVGDLPTFFTWEFSSPFQMLPATGLLEPGQA
  SQIKVTFQPLTAVIYEVQATCWYGAGSRQRSSIQLQAVAKCAQLLVSIKHKCPEDQDAEGFQKLLYFGSVAVGCT
  SERQIRLHNPSAVNAPFRIEISPDELAEDQAFSCPTAHGIVLPGEKKCVSVFFHPKTLDTRTVDYCSIMPSGCAS
  KTLLKVVGFCRGPAVSLQHYCVNFSWVNLGERSEQPLWIENQSDCTAHFQFAIDCLESVFTIRPAFGTLVGKARM
  TLHCAFQPTHPIICFRRVACLIHHQDPLFLDLMGTCHSDSTKPAILKPQHLTWYRTHLARGLTLYPPDILDAMLK
  EKKLAQDQNGALMIPIQDLEDMPAPQYPYIPPMTEFFFDGTSDITIFPPPISVEPVEVDFGACPGPEAPNPVPLC
  LMNHTKGKIMVVWTRRSDCPFWVTPESCDVPPLKSMAMRLHFQPPHPNCLYTVELEAFAIYKVLQSYSNIEEDCT
  MCPSWCLTVRARGHSYFAGFEHHIPQYSLDVPKLFPAVSSGEPTYRSLLLVNKDCKLLTFSLAPQRGSDVILRPT
  SGLVAPGAHQIILICTYPEGSSWKQHTFYLQCNASPQYLKEVSMYSREEPLQLKLDTHKSLYFKPTWVGCSSTSP
  FTFRNPSRLPLQFEWRVSEQHRKLLAVQPSRGLIQPNERLTLTWTFSPLEETKYLFQVGMWVWEAGLSPNANPAA
  TTHYMLRLVGVGLTSSLSAKEKELAFGNVLVNSKQSRFLVLLNDGNCTLYYRLYLEQGSPEAVDNHPLALQLDRT
  EGSMPPRSQDTICLTACPKQRSQYSWTITYSLLSHRDNKAGEKQELCCVSLVAVYPLLSILDVSSMGSAEGITRK
  HLWRLFSLDLLNSYLERDPTPCELTYKVPTRHSMSQIPPVLTPLRLDFNFGAAPFKAPPSVVFLALKNSGVVSLD
  WAFLLPSDQRIDVELWAEQAELNSTELHQMRVQDNCLFSISPKAGSLSPGQEQMVELKYSHLFIGTDHLPVLFKV
  SHGREILLNFIGVTVKPEQKYVHFTSTTHQFIPIPIGDTLPPRQIYELYNGGSVPVTYEVQTDVLSQVQEKNFDH
  PIFCCLNPKGEIQPGSTARVLWIFSPIEAKTYTVDVPIHILGWNSALIHFQGVGYNPHMMGDTAPFHNISSWDNS
  SIHSRLVVPGQNVFLSQSHISLGNIPVQSKCSRLLFLNNISKNEEIAFSWQPSPLDFGEVSVSPMIGVVAPEETV
  PFVVTLRASVHASFYSADLVCKLYSQQLMRQYHKELQEWKDEKVRQEVEFTITDMKVKKRTCCTACEPARKYKTL
  PPIKNQQSVSRPASWKLQTPKEEVSWPCPQPPSPGMLCLGLTARAHATDYFLANFFSEFPCHFLHRELPKRKAPR
  EESETSEEKSPNKWGPVSKQKKQLLVDILTTIIRGLLEDKNFHEAVDQSLVEQVPYFRQFWNEQSTKFMDQKNSL
  YLMPILPVPSSSWEDGKGKQPKEDRPEHYPGLGKKEEGEEEKGEEEEEELEEEEEEEEETEEEELGKEEIEEKEE
  ERDEKEEKVSWAGIGPTPQPESQESMQWQWQQQLNVMVKEEQEQDEKEAIRRLPAFANLQEALLENMIQNILVEA
  SRGEVVLTSRPRVIALPPFCVPRSLTPDTLLPTQQAEVLHPVVPLPTDLP

• Structural information:
  • Protein Domains: (877..98-)
    (/note="MSP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00132"-)
  • Interpro: IPR013783  IPR000535  
  • Prosite: PS50202
  • STRING: ENSP00000340776
• Other Databases: GeneCards:  CFAP65  Malacards:  CFAP65

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097225	sperm midpiece	IDA	cellular component
GO:0036126	sperm flagellum	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0001669	acrosomal vesicle	IDA	cellular component
GO:0007288	sperm axoneme assembly	ISS	biological process
GO:0030317	flagellated sperm motility	ISS	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0036126	sperm flagellum	IEA	cellular component
GO:0007288	sperm axoneme assembly	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0002080	acrosomal membrane	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Spermatogenic failure	KEGG:H01282
Spermatogenic failure	KEGG:H01282
Asthenoteratospermia due to acrosome hypoplasia and flagellum malformations	MIK: 31413122
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 31571197
Multiple morphological abnormalities of the sperm flagella (MMAF)	MIK: 31501240
Sperm motility defects	MIK: 29713536
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
29713536	Sperm motility defects	c.5341G?>?T (p.Glu1781*)			Male infertility	NGS
31413122	Asthenoteratospermia due to acrosome hypoplasia and flagellum malformations	c.G5341T:p.E1781X, c.C2284T:p.R762X and c.1751delC:p.P584fs, c.5714_5721del:p.L1905fs and c.C3021A:p.N1007K	Chinese	1321 (47 individuals with severe asthenozoospermia,219 with oligoasthenospermia, 195 with non-obstructive azoospermia and 223 fertile controls )	Male infertility	NGS
31571197	Male infertility with multiple morphological abnormalities of the sperm flagella	c. 2675 G>A [p. Trp892*]		1 with MMAF	Male infertility	NGS
31501240	Multiple morphological abnormalities of the sperm flagella (MMAF)	c.1775delC [p.Pro592Leufs*8], c.3072_3079dup [p.Arg1027Profs*41], c.1946delC [p.Pro649Argfs*5] and c.1580delT [p.Leu527Argfs*31], c.4855C>T [p.Arg1619*], c.5270T>A [p.Leu1757*], c.5341G>T [p.Glu1781*]	Han Chi nese	88 Han Chinese MMAF	Male infertility	NGS
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq