DAW1
entrez
164781
canonical
uniprot
Q8N136
canonical
ensembl
ENSG00000123977
resolver
ensp
ENSP00000311899
resolver
genesymbol
DAW1
resolver
genesymbol_syn
ODA16
resolver
genesymbol_syn
WDR69
resolver
hgnc
HGNC:26383
resolver
uniprot
A0A140VKH6
resolver
uniprot
B4DX89
resolver
uniprot
Q6ZRY1
resolver
uniprot
Q8N776
resolver
uniprot_entry
A0A140VKH6_HUMAN
resolver
uniprot_entry
B4DX89_HUMAN
resolver
uniprot_entry
DAW1_HUMAN
resolver
uniprot_sec
Q6ZRY1
resolver
uniprot_sec
Q8N776
resolver
amino_acid_sequence
MKLKSLLLRYYPPGIMLEYEKHGELKTKSIDLLDLGPSTDVSALVEEIQKAEPLLTASRTEQVKLLIQRLQEKLGQNSNHTFYLFKVLKAHILPLTNVALNKSGSCFITGSYDRTCKLWDTASGEELNTLEGHRNVVYAIAFNNPYGDKIATGSFDKTCKLWSVETGKCYHTFRGHTAEIVCLSFNPQSTLVATGSMDTTAKLWDIQNGEEVYTLRGHSAEIISLSFNTSGDRIITGSFDHTVVVWDADTGRKVNILIGHCAEISSASFNWDCSLILTGSMDKTCKLWDATNGKCVATLTGHDDEILDSCFDYTGKLIATASADGTARIFSAATRKCIAKLEGHEGEISKISFNPQGNHLLTGSSDKTARIWDAQTGQCLQVLEGHTDEIFSCAFNYKGNIVITGSKDNTCRIWR
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 52 (CILD52) [MIM:620570]: 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. CILD52 is an autosomal recessive form characterized by laterality defects, and mild respiratory symptoms. {ECO:0000269|PubMed:28991257, ECO:0000269|PubMed:36074124}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for axonemal dynein assembly and ciliary motility in ciliated organs, including Kupffer's vesicle, during embryogenesis (PubMed:36074124). Facilitates the onset of robust cilia motility during development (PubMed:36074124). {ECO:0000269|PubMed:36074124}.
uniprot
proteins
mass_dalton
45777
uniprot
proteins
protein_family
WD repeat WDR69 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
18852297
uniprot
proteins
pubmed
28991257
uniprot
proteins
pubmed
32239748
uniprot
proteins
pubmed
36074124
uniprot
proteins
sequence_length
415
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, flagellum basal body {ECO:0000250|UniProtKB:Q3Y8L7}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:Q3Y8L7}. Note=Expression is concentrated at the flagellum basal body but is also detected along the length of the flagellum. {ECO:0000250|UniProtKB:Q3Y8L7}.
uniprot
proteins