FOXJ1
entrez
2302
canonical
uniprot
Q92949
canonical
ensembl
ENSG00000129654
resolver
ensp
ENSP00000323880
resolver
ensp
ENSP00000531611
resolver
ensp
ENSP00000531612
resolver
enst
ENST00000322957
resolver
enst
ENST00000861552
resolver
enst
ENST00000861553
resolver
genesymbol
FOXJ1
resolver
genesymbol_syn
FKHL13
resolver
genesymbol_syn
HFH4
resolver
hgnc
HGNC:3816
resolver
uniprot
O00630
resolver
uniprot_entry
FOXJ1_HUMAN
resolver
uniprot_sec
O00630
resolver
amino_acid_sequence
MAESWLRLSGAGPAEEAGPEGGLEEPDALDDSLTSLQWLQEFSILNAKAPALPPGGTDPHGYHQVPGSAAPGSPLAADPACLGQPHTPGKPTSSCTSRSAPPGLQAPPPDDVDYATNPHVKPPYSYATLICMAMQASKATKITLSAIYKWITDNFCYFRHADPTWQNSIRHNLSLNKCFIKVPREKDEPGKGGFWRIDPQYAERLLSGAFKKRRLPPVHIHPAFARQAAQEPSAVPRAGPLTVNTEAQQLLREFEEATGEAGWGAGEGRLGHKRKQPLPKRVAKVPRPPSTLLPTPEEQGELEPLKGNFDWEAIFDAGTLGGELGALEALELSPPLSPASHVDVDLTIHGRHIDCPATWGPSVEQAADSLDFDETFLATSFLQHPWDESGSGCLPPEPLFEAGDATLASDLQDWASVGAFL
uniprot
proteins
disease_involvement
DISEASE: Allergic rhinitis (ALRH) [MIM:607154]: A common disease with complex inheritance characterized by mucosal inflammation caused by allergen exposure. {ECO:0000269|PubMed:16518568}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.; DISEASE: Ciliary dyskinesia, primary, 43 (CILD43) [MIM:618699]: 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. Patients with this disorder also develop significant obstructive hydrocephalus. Other more variable features include infertility and about a 50% chance of situs inversus or other left-right asymmetry defects. CILD43 inheritance is autosomal dominant. {ECO:0000269|PubMed:31630787}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor specifically required for the formation of motile cilia (PubMed:31630787). Acts by activating transcription of genes that mediate assembly of motile cilia, such as CFAP157. Binds the DNA consensus sequences 5'-HWDTGTTTGTTTA-3' or 5'-KTTTGTTGTTKTW-3' (where H is not G, W is A or T, D is not C, and K is G or T). Activates the transcription of a variety of ciliary proteins in the developing brain and lung. {ECO:0000250|UniProtKB:Q61660, ECO:0000269|PubMed:31630787}.
uniprot
proteins
mass_dalton
45247
uniprot
proteins
protein_family
FOXJ1 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16518568
uniprot
proteins
pubmed
31630787
uniprot
proteins
pubmed
9073514
uniprot
proteins
pubmed
9530170
uniprot
proteins
sequence_length
421
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q61660}.
uniprot
proteins