CLXN
entrez
79645
canonical
uniprot
Q9HAE3
canonical
ensembl
ENSG00000034239
resolver
ensp
ENSP00000262103
resolver
ensp
ENSP00000400873
resolver
ensp
ENSP00000430765
resolver
ensp
ENSP00000430940
resolver
ensp
ENSP00000542915
resolver
genesymbol
CLXN
resolver
genesymbol_syn
EFCAB1
resolver
genesymbol_syn
ODAD5
resolver
hgnc
HGNC:25678
resolver
uniprot
B4DSB4
resolver
uniprot
E7EVN7
resolver
uniprot_entry
CLXN_HUMAN
resolver
uniprot_sec
B4DSB4
resolver
uniprot_sec
E7EVN7
resolver
amino_acid_sequence
MNRKKLQKLTDTLTKNCKHFNKFEVNCLIKLFYDLVGGVERQGLVVGLDRNAFRNILHVTFGMTDDMIMDRVFRGFDKDNDGCVNVLEWIHGLSLFLRGSLEEKMKYCFEVFDLNGDGFISKEEMFHMLKNSLLKQPSEEDPDEGIKDLVEITLKKMDHDHDGKLSFADYELAVREETLLLEAFGPCLPDPKSQMEFEAQVFKDPNEFNDM
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 53 (CILD53) [MIM:620642]: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD53 is an autosomal recessive form characterized by randomization of the left-right body asymmetry and respiratory symptoms. {ECO:0000269|PubMed:36727596}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule. Seems to regulate the assembly of both ODAs and their axonemal docking complex onto ciliary microtubules (By similarity). Regulates ciliary and flagellar motility and is required for cilia-driven determination of body laterality (By similarity). {ECO:0000250|UniProtKB:Q32L26, ECO:0000250|UniProtKB:Q9D3N2}.
uniprot
proteins
mass_dalton
24488
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
31429579
uniprot
proteins
pubmed
36727596
uniprot
proteins
sequence_length
211
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:36727596}. Cell projection, cilium {ECO:0000269|PubMed:31429579}. Cell projection, cilium, flagellum {ECO:0000269|PubMed:31429579}.
uniprot
proteins