• Gene id: 200373

Gene Summary

• Gene Symbol: CFAP221   Gene   UCSC   Ensembl
• Aliases: FAP221, PCDP1
• Gene name: cilia and flagella associated protein 221
• Alternate names: cilia- and flagella-associated protein 221, flagellar associated protein 221 homolog, primary ciliary dyskinesia 1 homolog, primary ciliary dyskinesia protein 1,
• Gene location: 2q14.2 (119544391: 119660320)     Exons: 32     NC_000002.12
• OMIM: 618704

Protein Summary

• Protein general information: Q4G0U5  
  • Name: Cilia and flagella associated protein 221 (Primary ciliary dyskinesia protein 1)
  • Length: 840  
  • Mass: 96891
  • Tissue specificity: Expressed in ciliated respiratory epithelial cells and brain ependymal cells (at protein level). {ECO
• Sequence:

  MAVVKTPSRGLKNAKEPFNNASPHLLKNLVEEPKKRKEVPNHLLESKVYAKLVNNKVIQARPGIIHFGGYQVEKQ
  HQQILHLVNVSNEDTRVHILPPQTKYFEINYVRKEHHLVPGLSLTVTVTFSPDEWRYYYDCIRVHCKGDDTLLVP
  IHAYPVMNSLDFPSFINLSNVLLGESKTYVIPLQCSCPVDFEFYITLIQSHQAFAIEPTSGIIPANGKMTVTIKF
  TPFQYGTAQIKMQLWISQFNSQPYECVFTGTCYPNMALPLEEFERLNTLSKKVNVPPEKAMMHINFHRPPAKPKP
  QKVKEIEYQNLRFPVDLSNPFAVATVLNQEPGKLKIKELREVLDQGTEISKTRQMKEALFEQKVRQDIHEEMENH
  LKWQVHLGKDPMSFKLKKELTEEWQKACAKYKLDRGDPILDEEFQRLKTEVSHKRVVRNQEEKIKEFHPTFDPLI
  NNTWLSRSRAQKRFQQVARKVMIQGRLFNMLSAVREMDKESILRKIGQAKQSIAQEANFFKFFLRRISQDDYTSR
  FSVSPKEVLPFAFPDCSPPQDSNELAPDGLGLVPIKSSEVQIKQSYSFFNLQVPQLYKIKRYQPFSVHKSSTSYR
  PQKLARALKQGAEDEVTTITALPKQDSTTQLSGKTSVLSMKPPEALAMSLDYDPLYVFNPNPGLFAVMHPLTYAE
  TLIDYHLCSHPKYKFTKESRHGSSIPVTQKQFLHHTDIIPGIMHWKSFQSLVLSSLPDPSKMETTKSCDSFNSFM
  LPIDVPAILDALPEEDRLETVERELCEQNVEVMLTPEMIKVEFPMLNYKDIRKEKEVKDQAQPAEKAGEKLLEEM
  RNLRGKALNTYLILE

• Structural information:
  • Interpro: IPR029676  IPR013783  
  • STRING: ENSP00000393222
• Other Databases: GeneCards:  CFAP221  Malacards:  CFAP221

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060271	cilium assembly	ISS	biological process
GO:0005930	axoneme	ISS	cellular component
GO:0005516	calmodulin binding	ISS	molecular function
GO:0005929	cilium	ISS	cellular component
GO:0060271	cilium assembly	IEA	biological process
GO:0003341	cilium movement	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005516	calmodulin binding	IEA	molecular function
GO:0030030	cell projection organization	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003341	cilium movement	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0044458	motile cilium assembly	IEA	biological process
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
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)