FOXJ1

This gene encodes a member of the forkhead family of transcription factors. Similar genes in zebrafish and mouse have been shown to regulate the transcription of genes that control the production of motile cilia. The mouse ortholog also functions in the determination of left-right asymmetry. Polymorphisms in this gene are associated with systemic lupus erythematosus and allergic rhinitis.

forkhead box J1

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.

Actin cytoskeleton organization Source: BHF-UCL
Activation of GTPase activity Source: BHF-UCL
Axoneme assembly Source: UniProtKB
Brain development Source: BHF-UCL
Cellular protein localization Source: UniProtKB
Central tolerance induction Source: BHF-UCL
Ciliary basal body organization Source: UniProtKB
Cilium assembly Source: UniProtKB
Determination of left/right symmetry Source: UniProtKB
Epithelium development Source: BHF-UCL
Establishment of apical/basal cell polarity Source: BHF-UCL
Glomerular parietal epithelial cell development Source: BHF-UCL
Heart development Source: Ensembl
Humoral immune response Source: BHF-UCL
Left/right pattern formation Source: Ensembl
Leukocyte migration Source: BHF-UCL
Lung epithelium development Source: BHF-UCL
Metanephric part of ureteric bud development Source: BHF-UCL
Motile cilium assembly Source: Ensembl
Negative regulation of B cell activation Source: BHF-UCL
Negative regulation of germinal center formation Source: BHF-UCL
Negative regulation of humoral immune response mediated by circulating immunoglobulin Source: BHF-UCL
Negative regulation of interleukin-6 production Source: BHF-UCL
Negative regulation of NF-kappaB transcription factor activity Source: BHF-UCL
Negative regulation of T cell differentiation in thymus Source: BHF-UCL
Negative regulation of T cell proliferation Source: Ensembl
Negative regulation of transcription by RNA polymerase II Source: BHF-UCL
Pattern specification process Source: BHF-UCL
Positive regulation of central B cell tolerance induction Source: BHF-UCL
Positive regulation of lung ciliated cell differentiation Source: BHF-UCL
Positive regulation of transcription by RNA polymerase II Source: BHF-UCL
Regulation of transcription by RNA polymerase II Source: GO_Central
Spermatogenesis Source: UniProtKB

Nucleus

Allergic rhinitis (ALRH):
A common disease with complex inheritance characterized by mucosal inflammation caused by allergen exposure.
Ciliary dyskinesia, primary, 43 (CILD43):
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.