DNAAF5
entrez
54919
canonical
uniprot
Q86Y56
canonical
ensembl
ENSG00000164818
resolver
ensp
ENSP00000297440
resolver
ensp
ENSP00000522691
resolver
genesymbol
DNAAF5
resolver
genesymbol_syn
HEATR2
resolver
hgnc
HGNC:26013
resolver
uniprot
B3KPE2
resolver
uniprot
Q69YL1
resolver
uniprot
Q96FI9
resolver
uniprot
Q9NX75
resolver
uniprot_entry
B3KPE2_HUMAN
resolver
uniprot_entry
DAAF5_HUMAN
resolver
uniprot_sec
Q69YL1
resolver
uniprot_sec
Q96FI9
resolver
uniprot_sec
Q9NX75
resolver
amino_acid_sequence
MAALGVAEAVAAPHPAEGAETAEAVELSRALSRLLPGLEADSKPGRRRALEALRRALEEPGPAADPTAFQGPWARLLLPRLLRCLSDPAEGCRALAVHLLDLGLRRAARPRDALPRLLPALAARLAGPVPARRPPEACEELRLALVQLLGLAVDLCGAALAPHLDDALRALRCSLLDPFAAVRRESCSCAAALAQATPDHFHMQSESLIGPLMQTISHQHWKVRVAAIEATGAVIHFGNGKSVDDVLSHFAQRLFDDVPQVRRAVASVVGGWLLCLRDRYSFFHKLIPLLLSSLNDEVPEVRQLAASLWEDVGLQWQKENEEDLKDKLDFAPPTPPHYPPHERRPVLGCRELVFRNLSKILPALCHDITDWVVGTRVKSAQLLPVLLLHAEDHATQHLEVVLRTLFQACTDEEAAVVQSCTRSAELVGTFVSPEVFLKLILSTLKKTPSASGLLVLASAMRGCPREALQPHLAAIATELAQAHICQASENDLYLERLLLCVQALVSVCHEDCGVASLQLLDVLLTIVALAGATGLRDKAQETMDSLAMVEGVSSCQDLYRKHIGPLLERVTASHLDWTAHSPELLQFSVIVAQSGPALGEALPHVVPTLRACLQPSQDPQMRLKLFSILSTVLLRATDTINSQGQFPSYLETVTKDILAPNLQWHAGRTAAAIRTAAVSCLWALTSSEVLSAEQIRDVQETLMPQVLTTLEEDSKMTRLISCRIINTFLKTSGGMTDPEKLIRIYPELLKRLDDVSNDVRMAAASTLVTWLQCVKGANAKSYYQSSVQYLYRELLVHLDDPERAIQDAILEVLKEGSGLFPDLLVRETEAVIHKHRSATYCEQLLQHVQAVPATQ
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 18 (CILD18) [MIM:614874]: 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:23040496, ECO:0000269|PubMed:25232951}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is required for the assembly of the axonemal dynein inner and outer arms, two structures attached to the peripheral outer doublet A microtubule of the axoneme, that play a crucial role in cilium motility. {ECO:0000269|PubMed:23040496, ECO:0000269|PubMed:25232951}.
uniprot
proteins
mass_dalton
93521
uniprot
proteins
protein_family
DNAAF5 family
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23040496
uniprot
proteins
pubmed
25232951
uniprot
proteins
sequence_length
855
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23040496, ECO:0000269|PubMed:25232951}. Dynein axonemal particle {ECO:0000269|PubMed:23040496, ECO:0000269|PubMed:25232951}. Note=Observed only in the cytoplasm of ciliated cells and absent from cilia. {ECO:0000269|PubMed:23040496, ECO:0000269|PubMed:25232951}.
uniprot
proteins