DNAL1
entrez
83544
canonical
uniprot
Q4LDG9
canonical
ensembl
ENSG00000119661
resolver
ensp
ENSP00000451834
resolver
ensp
ENSP00000452037
resolver
genesymbol
DNAL1
resolver
genesymbol_syn
C14orf168
resolver
hgnc
HGNC:23247
resolver
uniprot
B2RD38
resolver
uniprot
Q5JPB7
resolver
uniprot
Q9BS43
resolver
uniprot_entry
DNAL1_HUMAN
resolver
uniprot_sec
B2RD38
resolver
uniprot_sec
Q5JPB7
resolver
uniprot_sec
Q9BS43
resolver
amino_acid_sequence
MAKATTIKEALARWEEKTGQRPSEAKEIKLYAQIPPIEKMDASLSMLANCEKLSLSTNCIEKIANLNGLKNLRILSLGRNNIKNLNGLEAVGDTLEELWISYNFIEKLKGIHIMKKLKILYMSNNLVKDWAEFVKLAELPCLEDLVFVGNPLEEKHSAENNWIEEATKRVPKLKKLDGTPVIKGDEEEDN
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 16 (CILD16) [MIM:614017]: 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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269|PubMed:21496787}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Part of the multisubunit axonemal ATPase complexes that generate the force for cilia motility and govern beat frequency (By similarity). Component of the outer arm dynein (ODA). May be involved in a mechanosensory feedback mechanism controlling ODA activity based on external conformational cues by tethering the outer arm dynein heavy chain (DNAH5) to the microtubule within the axoneme (By similarity). Important for ciliary function in the airways and for the function of the cilia that produce the nodal flow essential for the determination of the left-right asymmetry (PubMed:21496787). {ECO:0000250|UniProtKB:Q9XHH2, ECO:0000303|PubMed:21496787}.
uniprot
proteins
mass_dalton
21533
uniprot
proteins
protein_family
Dynein light chain LC1-type family
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15845866
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21496787
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
29601588
uniprot
proteins
sequence_length
190
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000305}.
uniprot
proteins