• Gene id: 220136

Gene Summary

• Gene Symbol: CFAP53   Gene   UCSC   Ensembl
• Aliases: CCDC11, HTX6
• Gene name: cilia and flagella associated protein 53
• Alternate names: cilia- and flagella-associated protein 53, coiled-coil domain containing 11,
• Gene location: 18q21.1 (50266494: 50227192)     Exons: 9     NC_000018.10
• Gene summary(Entrez): This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis and in skin fibroblasts from human. Mutations in this gene are associated with visceral heterotaxy-6, which implicates this gene in
• OMIM: 614759

Protein Summary

• Protein general information: Q96M91  
  • Name: Cilia and flagella associated protein 53 (Coiled coil domain containing protein 11)
  • Length: 514  
  • Mass: 61835
  • Tissue specificity: Expressed in skin fibroblasts (at protein level). {ECO
• Sequence:

  MYSQRFGTVQREVKGPTPKVVIVRSKPPKGQGAEHHLERIRRSHQKHNAILASIKSSERDRLKAEWDQHNDCKIL
  DSLVRARIKDAVQGFIINIEERRNKLRELLALEENEYFTEMQLKKETIEEKKDRMREKTKLLKEKNEKERQDFVA
  EKLDQQFRERCEELRVELLSIHQKKVCEERKAQIAFNEELSRQKLVEEQMFSKLWEEDRLAKEKREAQEARRQKE
  LMENTRLGLNAQITSIKAQRQATQLLKEEEARLVESNNAQIKHENEQDMLKKQKAKQETRTILQKALQERIEHIQ
  QEYRDEQDLNMKLVQRALQDLQEEADKKKQKREDMIREQKIYHKYLAQRREEEKAQEKEFDRILEEDKAKKLAEK
  DKELRLEKEARRQLVDEVMCTRKLQVQEKLQREAKEQEERAMEQKHINESLKELNCEEKENFARRQRLAQEYRKQ
  LQMQIAYQQQSQEAEKEEKRREFEAGVAANKMCLDKVQEVLSTHQVLPQNIHPMRKACPSKLPP

• Structural information:
  • Interpro: IPR033365  
  • STRING: ENSP00000381553
• Other Databases: GeneCards:  CFAP53  Malacards:  CFAP53

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060287	epithelial cilium movement involved in determination of left/right asymmetry	ISS	biological process
GO:0003341	cilium movement	ISS	biological process
GO:0007368	determination of left/right symmetry	IMP	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0003341	cilium movement	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005929	cilium	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005575	cellular_component	ND	cellular component

Diseases

Associated diseases	References
Heterotaxy	KEGG:H00632
Heterotaxy	KEGG:H00632
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881