DNAAF3
entrez
352909
canonical
uniprot
Q8N9W5
canonical
ensembl
ENSG00000167646
resolver
ensp
ENSP00000375600
resolver
ensp
ENSP00000394343
resolver
ensp
ENSP00000432046
resolver
ensp
ENSP00000436975
resolver
genesymbol
DNAAF3
resolver
genesymbol_syn
C19orf51
resolver
hgnc
HGNC:30492
resolver
uniprot
A8MUY0
resolver
uniprot
E3W9A1
resolver
uniprot
E9PAX5
resolver
uniprot
Q6P4F6
resolver
uniprot
Q8N9W0
resolver
uniprot
Q96AR2
resolver
uniprot_entry
DAAF3_HUMAN
resolver
uniprot_sec
A8MUY0
resolver
uniprot_sec
E3W9A1
resolver
uniprot_sec
E9PAX5
resolver
uniprot_sec
Q6P4F6
resolver
uniprot_sec
Q8N9W0
resolver
uniprot_sec
Q96AR2
resolver
amino_acid_sequence
MTTPAGSGSGFGSVSWWGLSPALDLQAESPPVDPDSQADTVHSNPELDVLLLGSVDGRHLLRTLSRAKFWPRRRFNFFVLENNLEAVARHMLIFSLALEEPEKMGLQERSETFLEVWGNALLRPPVAAFVRAQADLLAHLVPEPDRLEEQLPWLSLRALKFRERDALEAVFRFWAGGEKGPQAFPMSRLWDSRLRHYLGSRYDARRGVSDWDLRMKLHDRGAQVIHPQEFRRWRDTGVAFELRDSSAYHVPNRTLASGRLLSYRGERVAARGYWGDIATGPFVAFGIEADDESLLRTSNGQPVKTAGEITQHNVTELLRDVAAWGRARATGGDLEEQQHAEGSPEPGTPAAPTPESFTVHFLPLNSAQTLHHKSCYNGRFQLLYVACGMVHLLIPELGACVAPGGNLIVELARYLVDVRQEQLQGFNTRVRELAQAAGFAPQTGARPSETFARFCKSQESALGNTVPAVEPGTPPLDILAQPLEASNPALEGLTQPLQGGTPHCEPCQLPSESPGSLSEVLAQPQGALAPPNCESDSKTGV
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 2 (CILD2) [MIM:606763]: 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:22387996}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia. {ECO:0000269|PubMed:22387996}.
uniprot
proteins
mass_dalton
59410
uniprot
proteins
protein_family
DNAAF3 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
22387996
uniprot
proteins
sequence_length
541
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Dynein axonemal particle {ECO:0000250|UniProtKB:Q32NQ7}.
uniprot
proteins