CFAP53 (cilia and flagella associated protein 53)

Gene

• Entrez ID: 220136
• Gene name: Cilia and flagella associated protein 53
• Gene symbol: CFAP53
• Synonyms (NCBI Gene): CCDC11, HTX6
• Chromosome: 18
• Chromosome location: 18q21.1
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs375801610	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained, genic upstream transcript variant
rs886037751	T>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1555672928	TTGCTGGTCTAGCTTTTCAGCCACAAAATCCTGCCTCTCTTTTTCATTCTTCTCTTTTAGTAATTTAGTTTTCTCTCTCATCCTATCTTTTTTCTCCTCAATGGTTTCTTTCTTCAATTGCATTTCTGTAAAATACTCATTTTCTTCTAATGCTAAAAGCTCACGTAGCCTGAA>-	Likely-pathogenic	Genic upstream transcript variant, splice donor variant, splice acceptor variant, coding sequence variant, intron variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IDA	26538025
GO:0000922	Component	Spindle pole	IEA
GO:0002177	Component	Manchette	ISS
GO:0003341	Process	Cilium movement	ISS
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005814	Component	Centriole	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005879	Component	Axonemal microtubule	IDA	36191189
GO:0005879	Component	Axonemal microtubule	ISS
GO:0005929	Component	Cilium	IDA	38538594
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IDA	25504577
GO:0007283	Process	Spermatogenesis	IEA
GO:0007368	Process	Determination of left/right symmetry	IMP	26531781
GO:0007368	Process	Determination of left/right symmetry	ISS
GO:0030030	Process	Cell projection organization	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0031514	Component	Motile cilium	IEA
GO:0034451	Component	Centriolar satellite	IDA	26538025
GO:0034451	Component	Centriolar satellite	IEA
GO:0035869	Component	Ciliary transition zone	IDA	26538025
GO:0036126	Component	Sperm flagellum	ISS
GO:0036126	Component	Sperm flagellum	ISS
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	IMP	26538025
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	ISS
GO:0099513	Component	Polymeric cytoskeletal fiber	IEA
GO:0120316	Process	Sperm flagellum assembly	ISS
GO:0160111	Component	Axonemal A tubule inner sheath	ISS
GO:1905198	Process	Manchette assembly	ISS

Other IDs

• MIM: 614759
• HGNC: 26530
• e!Ensembl: ENSG00000172361

Protein

• UniProt ID: Q96M91
• Protein name: Cilia- and flagella-associated protein 53 (Coiled-coil domain-containing protein 11)
• Protein function: Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). Regulates motility patterns of both 9+0 and 9+2 motile cilia through differe
• PDB: 7UNG, 8J07
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13868	TPH	157 → 497	Trichohyalin-plectin-homology domain	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Expressed in skin fibroblasts (at protein level) (PubMed:22577226, PubMed:28621423). Expressed in nasal respiratory epithelial cells (at protein level) (PubMed:25504577). Expressed in airway epithelial cells (PubMed:36191189). {ECO:000
• Sequence:

  MYSQRFGTVQREVKGPTPKVVIVRSKPPKGQGAEHHLERIRRSHQKHNAILASIKSSERD
  RLKAEWDQHNDCKILDSLVRARIKDAVQGFIINIEERRNKLRELLALEENEYFTEMQLKK
  ETIEEKKDRMREKTKLLKEKNEKERQDFVAEKLDQQFRERCEELRVELLSIHQKKVCEER
  KAQIAFNEELSRQKLVEEQMFSKLWEEDRLAKEKREAQEARRQKELMENTRLGLNAQITS
  IKAQRQATQLLKEEEARLVESNNAQIKHENEQDMLKKQKAKQETRTILQKALQERIEHIQ
  QEYRDEQDLNMKLVQRALQDLQEEADKKKQKREDMIREQKIYHKYLAQRREEEKAQEKEF
  DRILEEDKAKKLAEKDKELRLEKEARRQLVDEVMCTRKLQVQEKLQREAKEQEERAMEQK
  HINESLKELNCEEKENFARRQRLAQEYRKQLQMQIAYQQQSQEAEKEEKRREFEAGVAAN
  KMCLDKVQEVLSTHQVLPQNIHPMRKACPSKLPP

• Sequence length: 514

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Dextrocardia	Likely pathogenic	rs1555672928	RCV000578206
Heterotaxy	Pathogenic; Likely pathogenic	rs778118886, rs557771609	RCV001732148 RCV001732153
Heterotaxy, visceral, 6, autosomal	Pathogenic; Likely pathogenic	rs375801610, rs1178515683, rs2144412496, rs897584290	RCV000190555 RCV003649061 RCV000030691 RCV003147972

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cervical cancer	Benign; Likely benign	rs180778332	RCV005894292
CFAP53-related disorder	Likely benign; Benign	rs200684225, rs574592418, rs138848935	RCV003971034 RCV003933904 RCV003937964
Gastric cancer	Benign; Likely benign	rs180778332	RCV005894293
Hypoplastic left heart syndrome	Uncertain significance	rs375198063	RCV000678700
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs180778332	RCV005894294
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs180778332	RCV005894295

Associations from Text Mining
Disease Name	Relationship Type	References
Bronchiectasis	Associate	34556108
Ciliary Motility Disorders	Associate	34556108
Heterotaxy Syndrome	Associate	23035047