DNAAF4
entrez
161582
canonical
uniprot
Q8WXU2
canonical
ensembl
ENSG00000256061
resolver
ensp
ENSP00000323275
resolver
ensp
ENSP00000402640
resolver
ensp
ENSP00000403412
resolver
genesymbol
DNAAF4
resolver
genesymbol
DYX1C1
resolver
genesymbol_syn
DYX1C1
resolver
genesymbol_syn
EKN1
resolver
hgnc
HGNC:21493
resolver
uniprot
A0A0S2Z5Z4
resolver
uniprot
Q6P5Y9
resolver
uniprot
Q8N1S6
resolver
uniprot_entry
A0A0S2Z5Z4_HUMAN
resolver
uniprot_entry
DAAF4_HUMAN
resolver
uniprot_sec
Q6P5Y9
resolver
uniprot_sec
Q8N1S6
resolver
amino_acid_sequence
MPLQVSDYSWQQTKTAVFLSLPLKGVCVRDTDVFCTENYLKVNFPPFLFEAFLYAPIDDESSKAKIGNDTIVFTLYKKEAAMWETLSVTGVDKEMMQRIREKSILQAQERAKEATEAKAAAKREDQKYALSVMMKIEEEERKKIEDMKENERIKATKALEAWKEYQRKAEEQKKIQREEKLCQKEKQIKEERKKIKYKSLTRNLASRNLAPKGRNSENIFTEKLKEDSIPAPRSVGSIKINFTPRVFPTALRESQVAEEEEWLHKQAEARRAMNTDIAELCDLKEEEKNPEWLKDKGNKLFATENYLAAINAYNLAIRLNNKMPLLYLNRAACHLKLKNLHKAIEDSSKALELLMPPVTDNANARMKAHVRRGTAFCQLELYVEGLQDYEAALKIDPSNKIVQIDAEKIRNVIQGTELKS
uniprot
proteins
disease_involvement
DISEASE: Dyslexia 1 (DYX1) [MIM:127700]: A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. A chromosomal aberration involving DNAAF4 has been found in a family affected by dyslexia. Translocation t(2;15)(q11;q21).; DISEASE: Ciliary dyskinesia, primary, 25 (CILD25) [MIM:615482]: 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. Patients may 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:23872636, ECO:0000269|PubMed:25186273}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Axonemal dynein assembly factor required for ciliary motility. Involved in neuronal migration during development of the cerebral neocortex. May regulate the stability and proteasomal degradation of the estrogen receptors that play an important role in neuronal differentiation, survival and plasticity. {ECO:0000269|PubMed:19423554, ECO:0000269|PubMed:23872636}.
uniprot
proteins
mass_dalton
48527
uniprot
proteins
pubmed
12954984
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
16989952
uniprot
proteins
pubmed
19423554
uniprot
proteins
pubmed
23872636
uniprot
proteins
pubmed
25186273
uniprot
proteins
pubmed
28041644
uniprot
proteins
pubmed
29601588
uniprot
proteins
sequence_length
420
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12954984, ECO:0000269|PubMed:16989952}. Cytoplasm {ECO:0000269|PubMed:12954984, ECO:0000269|PubMed:16989952, ECO:0000269|PubMed:23872636}. Dynein axonemal particle {ECO:0000305|PubMed:23872636}. Cell projection, neuron projection {ECO:0000250|UniProtKB:Q5VJS5}.
uniprot
proteins