DNAAF11
entrez
23639
canonical
uniprot
Q86X45
canonical
ensembl
ENSG00000129295
resolver
ensp
ENSP00000484634
resolver
ensp
ENSP00000539777
resolver
ensp
ENSP00000539779
resolver
ensp
ENSP00000750793
resolver
genesymbol
DNAAF11
resolver
genesymbol_syn
LRRC6
resolver
genesymbol_syn
LRTP
resolver
genesymbol_syn
TSLRP
resolver
hgnc
HGNC:16725
resolver
uniprot
Q13648
resolver
uniprot
Q4G183
resolver
uniprot_entry
DAA11_HUMAN
resolver
uniprot_sec
Q13648
resolver
uniprot_sec
Q4G183
resolver
amino_acid_sequence
MGWITEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEYLNLALNNIEKIENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPPRTLITEDGKALNVNEPKIDFSLKDNEKQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKSMKTTSDRSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPRRRPEPKIIPSEEDPTFEDNPEVPPLI
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 19 (CILD19) [MIM:614935]: 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:23122589, ECO:0000269|PubMed:23527195, ECO:0000269|PubMed:23891469, ECO:0000269|PubMed:25186273, ECO:0000269|PubMed:29511670, ECO:0000269|PubMed:33403504}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in dynein arm assembly, is important for expression and transporting outer dynein arm (ODA) proteins from the cytoplasm to the cilia (PubMed:23122589, PubMed:23527195, PubMed:33403504). Acts as a crucial component in the formation and motility of spermatozoal flagella (PubMed:33403504). {ECO:0000269|PubMed:23122589, ECO:0000269|PubMed:23527195, ECO:0000269|PubMed:33403504}.
uniprot
proteins
mass_dalton
54255
uniprot
proteins
protein_family
TilB family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
23122589
uniprot
proteins
pubmed
23527195
uniprot
proteins
pubmed
23891469
uniprot
proteins
pubmed
25186273
uniprot
proteins
pubmed
29511670
uniprot
proteins
pubmed
29601588
uniprot
proteins
pubmed
33403504
uniprot
proteins
sequence_length
466
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23122589, ECO:0000269|PubMed:23527195, ECO:0000269|PubMed:33403504}. Cell projection, cilium {ECO:0000269|PubMed:23122589}. Dynein axonemal particle {ECO:0000250|UniProtKB:A0A1L8G016}. Cell projection, cilium, flagellum {ECO:0000269|PubMed:33403504}.
uniprot
proteins