CFAP52
entrez
146845
canonical
uniprot
Q8N1V2
canonical
ensembl
ENSG00000166596
resolver
ensp
ENSP00000339449
resolver
ensp
ENSP00000379521
resolver
genesymbol
CFAP52
resolver
genesymbol_syn
WDR16
resolver
genesymbol_syn
WDRPUH
resolver
hgnc
HGNC:16053
resolver
uniprot
B2RDU7
resolver
uniprot
Q5DX23
resolver
uniprot
Q8TC73
resolver
uniprot
Q8TCI3
resolver
uniprot_entry
CFA52_HUMAN
resolver
uniprot_sec
B2RDU7
resolver
uniprot_sec
Q5DX23
resolver
uniprot_sec
Q8TC73
resolver
uniprot_sec
Q8TCI3
resolver
amino_acid_sequence
MDNKISPEAQVAELELDAVIGFNGHVPTGLKCHPDQEHMIYPLGCTVLIQAINTKEQNFLQGHGNNVSCLAISRSGEYIASGQVTFMGFKADIILWDYKNRELLARLSLHKGKIEALAFSPNDLYLVSLGGPDDGSVVVWSIAKRDAICGSPAAGLNVGNATNVIFSRCRDEMFMTAGNGTIRVWELDLPNRKIWPTECQTGQLKRIVMSIGVDDDDSFFYLGTTTGDILKMNPRTKLLTDVGPAKDKFSLGVSAIRCLKMGGLLVGSGAGLLVFCKSPGYKPIKKIQLQGGITSITLRGEGHQFLVGTEESHIYRVSFTDFKETLIATCHFDAVEDIVFPFGTAELFATCAKKDIRVWHTSSNRELLRITVPNMTCHGIDFMRDGKSIISAWNDGKIRAFAPETGRLMYVINNAHRIGVTAIATTSDCKRVISGGGEGEVRVWQIGCQTQKLEEALKEHKSSVSCIRVKRNNEECVTASTDGTCIIWDLVRLRRNQMILANTLFQCVCYHPEEFQIITSGTDRKIAYWEVFDGTVIRELEGSLSGSINGMDITQEGVHFVTGGNDHLVKVWDYNEGEVTHVGVGHSGNITRIRISPGNQYIVSVSADGAILRWKYPYTS
uniprot
proteins
disease_involvement
DISEASE: Heterotaxy, visceral, 10, autosomal, with male infertility (HTX10) [MIM:619607]: 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. HTX10 is an autosomal recessive form associated with male infertility. {ECO:0000269|PubMed:33139725}. 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 (PubMed:36191189). Important for proper ciliary and flagellar beating. May act in cooperation with CFAP45 and axonemal dynein subunit DNAH11 (PubMed:33139725). May play a role in cell growth and/or survival (PubMed:15967112). {ECO:0000250|UniProtKB:E1BKF9, ECO:0000269|PubMed:15967112, ECO:0000269|PubMed:33139725, ECO:0000269|PubMed:36191189}.
uniprot
proteins
mass_dalton
68298
uniprot
proteins
protein_family
CFAP52 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15967112
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
33139725
uniprot
proteins
pubmed
36191189
uniprot
proteins
sequence_length
620
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15967112}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:33139725, ECO:0000269|PubMed:36191189}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:Q5F201}. Note=Located in the proximal region of respiratory cilia. {ECO:0000269|PubMed:33139725}.
uniprot
proteins