CFAP53
entrez
220136
canonical
uniprot
Q96M91
canonical
ensembl
ENSG00000172361
resolver
ensp
ENSP00000381553
resolver
enst
ENST00000398545
resolver
genesymbol
CFAP53
resolver
genesymbol_syn
CCDC11
resolver
hgnc
HGNC:26530
resolver
uniprot
B4DXT1
resolver
uniprot_entry
CFA53_HUMAN
resolver
uniprot_sec
B4DXT1
resolver
amino_acid_sequence
MYSQRFGTVQREVKGPTPKVVIVRSKPPKGQGAEHHLERIRRSHQKHNAILASIKSSERDRLKAEWDQHNDCKILDSLVRARIKDAVQGFIINIEERRNKLRELLALEENEYFTEMQLKKETIEEKKDRMREKTKLLKEKNEKERQDFVAEKLDQQFRERCEELRVELLSIHQKKVCEERKAQIAFNEELSRQKLVEEQMFSKLWEEDRLAKEKREAQEARRQKELMENTRLGLNAQITSIKAQRQATQLLKEEEARLVESNNAQIKHENEQDMLKKQKAKQETRTILQKALQERIEHIQQEYRDEQDLNMKLVQRALQDLQEEADKKKQKREDMIREQKIYHKYLAQRREEEKAQEKEFDRILEEDKAKKLAEKDKELRLEKEARRQLVDEVMCTRKLQVQEKLQREAKEQEERAMEQKHINESLKELNCEEKENFARRQRLAQEYRKQLQMQIAYQQQSQEAEKEEKRREFEAGVAANKMCLDKVQEVLSTHQVLPQNIHPMRKACPSKLPP
uniprot
proteins
disease_involvement
DISEASE: Heterotaxy, visceral, 6, autosomal (HTX6) [MIM:614779]: A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX6 clinical features are situs inversus totalis and severe complex cardiac malformations including unbalanced atrioventricular canal defects, transposition of the great arteries with severe pulmonary stenosis, right aortic arch, abnormal systemic venous return and total anomalous pulmonary venous drainage. {ECO:0000269|PubMed:22577226, ECO:0000269|PubMed:25504577, ECO:0000269|PubMed:26531781}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 differential localization and recruitment of axonemal dynein components (By similarity). Required for centriolar satellite integrity and non-motile cilium assembly (PubMed:26538025). Required for motile cilium formation (PubMed:26538025). Through its role in the beating of primary cilia, involved in the establishment of organ laterality during embryogenesis (PubMed:26531781). Required for sperm flagellum biogenesis and is essential for male fertility (By similarity). {ECO:0000250|UniProtKB:F1N7G5, ECO:0000250|UniProtKB:Q9D439, ECO:0000269|PubMed:26531781, ECO:0000269|PubMed:26538025, ECO:0000269|PubMed:36191189}.
uniprot
proteins
mass_dalton
61835
uniprot
proteins
protein_family
CFAP53 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
22577226
uniprot
proteins
pubmed
25504577
uniprot
proteins
pubmed
26531781
uniprot
proteins
pubmed
26538025
uniprot
proteins
pubmed
28621423
uniprot
proteins
pubmed
36191189
uniprot
proteins
pubmed
38538594
uniprot
proteins
sequence_length
514
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:25504577, ECO:0000269|PubMed:36191189}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:Q9D439}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:28621423}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:26538025}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:26538025}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:28621423}. Cell projection, cilium {ECO:0000269|PubMed:38538594}. Note=In tracheal cell cilia, localizes prominently to both centriolar satellites and axonemes (By similarity). Tightly associated with microtubules in tracheal cilia (By similarity). In embryonic node cells, localizes to the base of the node cilia at the centriolar satellites and, to a lesser extent, to the cilium axoneme (By similarity). Localizes to centriolar satellites through G1, S phase, G2 and mitosis (PubMed:26538025). Enriched on the spindle poles in mitosis (PubMed:26538025). Relocalizes from the centriolar satellite to the ciliary transition zone upon ciliogenesis (PubMed:26538025). In skin fibroblast cells, locates predominantly to the centriole with much lower levels associated with the actin cytoskeleton (PubMed:28621423). Localizes to the sperm flagellum and manchette (By similarity). {ECO:0000250|UniProtKB:Q9D439, ECO:0000269|PubMed:26538025, ECO:0000269|PubMed:28621423}.
uniprot
proteins