CFAP43 (cilia and flagella associated protein 43)

Gene

• Entrez ID: 80217
• Gene name: Cilia and flagella associated protein 43
• Gene symbol: CFAP43
• Synonyms (NCBI Gene): C10orf79, HYDNP1, SPGF19, WDR96, bA373N18.2
• Chromosome: 10
• Chromosome location: 10q25.1
• Summary: This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs147356105	A>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs373911488	A>G,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained, non coding transcript variant, intron variant
rs376788209	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, missense variant
rs753300178	CA>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, non coding transcript variant
rs760609580	G>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained, genic downstream transcript variant
rs768831533	G>A,C,T	Pathogenic	Stop gained, synonymous variant, intron variant, coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs1131692266	G>T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs1554861288	T>-	Pathogenic	Intron variant, splice acceptor variant, genic downstream transcript variant
rs1554862953	T>G	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554882484	->A	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, upstream transcript variant, frameshift variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IEA
GO:0003341	Process	Cilium movement	IEA
GO:0003356	Process	Regulation of cilium beat frequency	IEA
GO:0003356	Process	Regulation of cilium beat frequency	ISS
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	IEA
GO:0005930	Component	Axoneme	ISS
GO:0006997	Process	Nucleus organization	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007288	Process	Sperm axoneme assembly	IBA
GO:0007288	Process	Sperm axoneme assembly	IEA
GO:0007288	Process	Sperm axoneme assembly	IMP	29449551
GO:0007288	Process	Sperm axoneme assembly	ISS
GO:0007420	Process	Brain development	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0042995	Component	Cell projection	IEA
GO:0044458	Process	Motile cilium assembly	IEA
GO:0044782	Process	Cilium organization	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0090660	Process	Cerebrospinal fluid circulation	IEA
GO:0097729	Component	9+2 motile cilium	IEA
GO:0120197	Process	Mucociliary clearance	IEA

Other IDs

• MIM: 617558
• HGNC: 26684
• e!Ensembl: ENSG00000197748

Protein

• UniProt ID: Q8NDM7
• Protein name: Cilia- and flagella-associated protein 43 (WD repeat-containing protein 96)
• Protein function: Flagellar protein involved in sperm flagellum axoneme organization and function (By similarity). Involved in the regulation of the beating frequency of motile cilia on the epithelial cells of the respiratory tract (By similarity). {ECO:0000250|U
• PDB: 8J07
• Tissue specificity: TISSUE SPECIFICITY: Testis-specific. {ECO:0000269|PubMed:29449551}.
• Sequence:

  MAQGRERDEGPHSAGGASLSVRWVQGFPKQNVHFVNDNTICYPCGNYVIFINIETKKKTV
  LQCSNGIVGVMATNIPCEVVAFSDRKLKPLIYVYSFPGLTRRTKLKGNILLDYTLLSFSY
  CGTYLASYSSLPEFELALWNWESSIILCKKSQPGMDVNQMSFNPMNWRQLCLSSPSTVSV
  WTIERSNQEHCFRARSVKLPLEDGSFFNETDVVFPQSLPKDLIYGPVLPLSAIAGLVGKE
  AETFRPKDDLYPLLHPTMHCWTPTSDLYIGCEEGHLLMINGDTLQVTVLNKIEEESPLDR
  RNFISPVTLVYQKEGVLASGIDGFVYSFIIKDRSYMIEDFLEIERPVEHMTFSPNYTVLL
  IQTDKGSVYIYTFGKEPTLNKVLDACDGKFQAIDFITPGTQYFMTLTYSGEICVWWLEDC
  ACVSKIYLNTLATVLACCPSSLSAAVGTEDGSVYFISVYDKESPQVVHKAFLSESSVQHV
  VYDQQGIFLLVGTAEGKVFIINANSSSSFQIIGFTEVAKDILQISTVSLLETDIVEVMVL
  SSLPEAGRSRLEMFTLPTLLPQVSTTFADERGRLKDEIIHKYLYELEHALSSAVLGFQSN
  QIYGFCSQVPYICSYLLPEEEHTGIYILKPYKKVQSRQYGPGLLYLSSHGLWLITIAKCG
  ILCIRDVYTLETFAWCRSHSHQGHGIQSMRISMDGQNILVNGRDDGTLVYLKWKRFGGHL
  ASEILDYYQKLLISLSSAMDKENHYLSTTPKVSVDLGSDSEHTKQKASTDLSQDELVLTD
  VKKEIPWIQQKSQEAIKKEVNLFSKKRKEIKQGIKSLSKTILNMMEENDKLENIAKLDQQ
  EFGLDLEELERLHDESQEEVAKMIKDVEMHNLAKSYLAELIKEECWNSMAVKGRALKCFH
  IPCVVENFPMKARTVEELKELERVLQQKKIEAECLKLRKEIVEAQSGVKLIKQRHEEDDE
  EEEEEDKTVKYSNLPNYLLGSLSTDFGVDTSLLSSQLELHSREEKINQIILLKDIIYKVK
  TVFNNEFDAAYKQKEFEIARVKERNVRIREIILDLELEEAVWQPEFEDCEKPERTLVVQD
  EEITAHKHIKPWHKAKELIVNHEKEHWLLIQDASTRLRALMDMMGGVLEVKKEDILRMVI
  PQPAFMAKPDAVWTEEERKQFKDYEKKVKELNEERDKYRKSLEAELKKLQNSIQESTQAF
  DEHLKRLFERRVKAEMVTNQEELKISNLAFSLLLDEELSSREKFLNNYLTRKQHEKSQTS
  EAVRKSREDLDVCKEHYDNLLAEDKVMDRSFKKEFSEIPGHQVDILYKLFKRRPRISKQK
  THSETTSVVPFGELPGSGKLNKDAFAQLMKAMDELDNISNMPEGLDPLVWNHFCMTRRAK
  VENEQKVKQKAADLLEMATFLQKRVEEEEKVQQEIERVFHELILLQEEKVRFQLNLTIQI
  LLKQGQVELENFQLVLEYSDAILINKNIIEDLNSVIRTQGQKKVASMMESKDVHKRILQI
  EWEHKKMEMEREDLNQKAWDIQMLFFSRDRQKYLNEPNYEALISIQIGIMEQTIAVLDKM
  HKKNVENCKKLLKKLGKFSNQKDIANYALSCNLREELVAVSERKDICNAMGSKLTCEKIV
  KERYENMMQQQKLTNISKQQAEQISILQTEVERLRMKTFPALVQM

• Sequence length: 1665

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
CFAP43-related disorder	Likely pathogenic	rs2493499292	RCV003893700
Normal pressure hydrocephalus	Pathogenic; Likely pathogenic	rs139080358, rs2087918488	RCV001849889 RCV003337898
Spermatogenic failure 19	Pathogenic	rs373911488, rs768831533, rs1131692266, rs376788209, rs1554861288, rs1554862953, rs753300178, rs760609580, rs1554882484, rs147356105	RCV000496006 RCV000496042 RCV000496071 RCV000496008 RCV000626417 RCV000626418 RCV000626419 RCV000626420 RCV000626421 RCV000626422

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Familial cancer of breast	Uncertain significance	rs370465833, rs199794656	RCV005932559 RCV005928945
Ovarian serous cystadenocarcinoma	Uncertain significance	rs148523587	RCV005930736
Prostate cancer	Uncertain significance	rs193921081	RCV000149309

Associations from Text Mining
Disease Name	Relationship Type	References
Deafness Cataract Retinitis Pigmentosa And Sperm Abnormalities	Associate	34100391
Infertility	Associate	39331878
Infertility Male	Associate	39331878
Ocular Motility Disorders	Associate	34089056