DNAAF1
entrez
123872
canonical
uniprot
Q8NEP3
canonical
ensembl
ENSG00000154099
resolver
ensp
ENSP00000367815
resolver
ensp
ENSP00000567956
resolver
ensp
ENSP00000633753
resolver
ensp
ENSP00000633755
resolver
genesymbol
DNAAF1
resolver
genesymbol_syn
LRRC50
resolver
hgnc
HGNC:30539
resolver
uniprot
A0A140VJN4
resolver
uniprot
B4DJA3
resolver
uniprot
Q69YI8
resolver
uniprot
Q69YJ0
resolver
uniprot
Q69YW5
resolver
uniprot
Q96LP3
resolver
uniprot
Q96MB6
resolver
uniprot_entry
A0A140VJN4_HUMAN
resolver
uniprot_entry
DAAF1_HUMAN
resolver
uniprot_sec
B4DJA3
resolver
uniprot_sec
Q69YI8
resolver
uniprot_sec
Q69YJ0
resolver
uniprot_sec
Q69YW5
resolver
uniprot_sec
Q96LP3
resolver
uniprot_sec
Q96MB6
resolver
amino_acid_sequence
MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEINDPKEICVGSSDTSYHSQQKQSGDNGSGGHFAHPREDREDRGPRMTKSSLQKLCKQHKLYITPALNDTLYLHFKGFDRIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQMNLLRKIENLEPLQKLDALNLSNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSILESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDSIEALAMIKQRAEERKRQRESQERGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFEAKDELCPEKPSGEEPPVEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEPEGTLPAETLLLSPPVKVKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVATEGVFVTELDGTRTEDLETIRLETKETFCIDDLPDLEDDDETGKSLEDQNMCFPKIEVISSLSDDSDPELDYTSLPVLENLPTDTLSNIFAVSKDTSKAARVPFTDIFKKEAKRDLEIRKQDTKSPRPLIQELSDEDPSGQLLMPPTCQRDAAPLTSSGDRDSDFLAASSPVPTESAATPPETCVGVAQPSQALPTWDLTAFPAPKAS
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 13 (CILD13) [MIM:613193]: 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. At ultrastructural level, CILD13 is characterized by a marked reduction or absence of both dynein arms from the patients cilia. {ECO:0000269|PubMed:19944400, ECO:0000269|PubMed:19944405, ECO:0000269|PubMed:25186273}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Cilium-specific protein required for the stability of the ciliary architecture. Plays a role in cytoplasmic preassembly of dynein arms. Involved in regulation of microtubule-based cilia and actin-based brush border microvilli. {ECO:0000269|PubMed:18385425, ECO:0000269|PubMed:19944400, ECO:0000269|PubMed:19944405}.
uniprot
proteins
mass_dalton
80026
uniprot
proteins
protein_family
DNAAF1 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18385425
uniprot
proteins
pubmed
19944400
uniprot
proteins
pubmed
19944405
uniprot
proteins
pubmed
25186273
uniprot
proteins
sequence_length
725
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:18385425}. Cytoplasm {ECO:0000269|PubMed:18385425}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:18385425}. Note=In HEK293T cells, it is diffusely cytoplasmic and concentrates at the mitotic spindle poles, while in MDCK cells, it localizes in the cilium. In vivo, this protein is probably restricted to the cilium.
uniprot
proteins