DNAAF19
entrez
388389
canonical
uniprot
Q8IW40
canonical
ensembl
ENSG00000167131
resolver
ensp
ENSP00000350420
resolver
ensp
ENSP00000386640
resolver
ensp
ENSP00000387252
resolver
ensp
ENSP00000391692
resolver
genesymbol
DNAAF19
resolver
genesymbol_syn
CCDC103
resolver
hgnc
HGNC:32700
resolver
uniprot
A8K145
resolver
uniprot
B8ZZU0
resolver
uniprot_entry
DAA19_HUMAN
resolver
uniprot_sec
A8K145
resolver
uniprot_sec
B8ZZU0
resolver
amino_acid_sequence
MERNDIINFKALEKELQAALTADEKYKRENAAKLRAVEQRVASYEEFRGIVLASHLKPLERKDKMGGKRTVPWNCHTIQGRTFQDVATEISPEKAPLQPETSADFYRDWRRHLPSGPERYQALLQLGGPRLGCLFQTDVGFGLLGELLVALADHVGPADRAAVLGILCSLASTGRFTLNLSLLSRAERESCKGLFQKLQAMGNPRSVKEGLSWEEQGLEEQSGGLQEEERLLQELLELYQVD
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 17 (CILD17) [MIM:614679]: 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:22581229, ECO:0000269|PubMed:25186273}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Dynein-attachment factor required for cilia motility. {ECO:0000269|PubMed:22581229}.
uniprot
proteins
mass_dalton
27163
uniprot
proteins
protein_family
DNAAF19/PR46b family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
22581229
uniprot
proteins
pubmed
25186273
uniprot
proteins
pubmed
35006274
uniprot
proteins
sequence_length
242
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q6DGB6}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:Q6DGB6}.
uniprot
proteins