DNAAF6
entrez
139212
canonical
uniprot
Q9NQM4
canonical
ensembl
ENSG00000080572
resolver
ensp
ENSP00000337757
resolver
ensp
ENSP00000361531
resolver
ensp
ENSP00000441930
resolver
ensp
ENSP00000640353
resolver
enst
ENST00000336387
resolver
enst
ENST00000372453
resolver
enst
ENST00000535523
resolver
enst
ENST00000970294
resolver
genesymbol
DNAAF6
resolver
genesymbol_syn
CXorf41
resolver
genesymbol_syn
PIH1D3
resolver
hgnc
HGNC:28570
resolver
uniprot
D3DUX5
resolver
uniprot
Q86WE1
resolver
uniprot_entry
DAAF6_HUMAN
resolver
uniprot_sec
D3DUX5
resolver
uniprot_sec
Q86WE1
resolver
amino_acid_sequence
MESENMDSENMKTENMESQNVDFESVSSVTALEALSKLLNPEEEDDSDYGQTNGLSTIGAMGPGNIGPPQIEELKVIPETSEENNEDIWNSEEIPEGAEYDDMWDVREIPEYEIIFRQQVGTEDIFLGLSKKDSSTGCCSELVAKIKLPNTNPSDIQIDIQETILDLRTPQKKLLITLPELVECTSAKAFYIPETETLEITMTMKRELDIANFF
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 36, X-linked (CILD36) [MIM:300991]: A form of primary ciliary dyskinesia, 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. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD36 inheritance is X-linked recessive. About half of CILD36 patients have laterality defects due to ciliary dysfunction at the embryonic node. {ECO:0000269|PubMed:28041644, ECO:0000269|PubMed:28176794}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in cytoplasmic pre-assembly of axonemal dynein. {ECO:0000269|PubMed:28041644, ECO:0000269|PubMed:28176794}.
uniprot
proteins
mass_dalton
24069
uniprot
proteins
protein_family
PIH1 family
uniprot
proteins
pubmed
12601173
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
28041644
uniprot
proteins
pubmed
28176794
uniprot
proteins
sequence_length
214
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:28176794}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:28176794}. Note=Localized to the cytoplasm of spermatogenic cells. {ECO:0000250|UniProtKB:Q3KNI6}.
uniprot
proteins