• Gene id: 55259

Gene Summary

• Gene Symbol: CFAP94   Gene   UCSC   Ensembl
• Aliases: CASC1, LAS1, PPP1R54
• Gene name: cilia and flagella associated protein 94
• Alternate names: protein CASC1, cancer susceptibility 1, cancer susceptibility candidate 1, cancer susceptibility candidate gene 1 protein, lung adenoma susceptibility 1-like protein, protein phosphatase 1 regulatory subunit 54,
• Gene location: 12p12.1 (25195159: 25107056)     Exons: 19     NC_000012.12
• OMIM: 616906

Protein Summary

• Protein general information: Q6TDU7  
  • Name: Protein CASC1 (Cancer susceptibility candidate gene 1 protein) (Lung adenoma susceptibility 1 like protein) (Protein phosphatase 1 regulatory subunit 54)
  • Length: 716  
  • Mass: 83160
• Sequence:

  MSGSKKKKVTKAERLKLLQEEEERRLKEEEEARLKYEKEEMERLEIQRIEKEKWHRLEAKDLERRNEELEELYLL
  ERCFPEAEKLKQETKLLSQWKHYIQCDGSPDPSVAQEMNTFISLWKEKTNETFEEVIEKSKVVLNLIEKLKFILL
  ETPPCDLQDKNIIQYQESILQLQELLHLKFGVATEILLKQASTLADLDSGNMEKVIKDENVTLYVWANLKKNPRH
  RSVRFSETQIGFEIPRILATSDIAVRLLHTHYDHVSALHPVSTPSKEYTSAVTELVKDDVKNVEKAISKEVEEES
  KQQERGSHLIQEEEIKVEEEQGDIEVKMSSAEEESEAIKCEREMKVLSETVSAAQLLLVENSSEKPDFFEDNVVD
  LCQFTTLGGVYHLDILELPPQCKPVKGWMIVEILKEGLQKYTYPPETTEEFETENAFPPIEVTLEVHENVIFFED
  PVVVRWDAEGKHWRTDGISNVSYKPKERLVTFSLDTFGPVTLIQDAHINMPYQSWELRPLDVNKVLLTVTTVFTE
  IQIQIKENLCMLSSIKLKDKKHISILEGTWMTPIPFIIALKEAGLNIFPTRHSHFYVIINNKVPLVEVKAYRQMA
  LLSSAFAFGWSKWNLLCNSTKVVFKVREHLTEACTENPNWALLMFSGDRAQRLKIKEESEAFSEALKEETEFHST
  LYHMVKDFASEEAMEKVRSSNCQFVNSVCHMLLSTRLLSYS

• Structural information:
  • Interpro: IPR023247  IPR031826  
  • STRING: ENSP00000379310
• Other Databases: GeneCards:  CFAP94  Malacards:  CFAP94

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R