FOXJ1
Forkhead box protein J1
Also known as: FKHL13, FOXJ1_HUMAN, HFH-4, HFH4
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q92949
- Gene
- FOXJ1
- Ensembl
- ENSG00000129654
- Chromosome
- 17
- Canonical length
- 421 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
OverviewNCBI Gene
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.[provided by RefSeq, Sep 2009]
Canonical amino-acid sequenceUniProt
421 residues, UniProt reviewed canonical sequence.
>Q92949|FOXJ1
1 MAESWLRLSG AGPAEEAGPE GGLEEPDALD DSLTSLQWLQ EFSILNAKAP ALPPGGTDPH
61 GYHQVPGSAA PGSPLAADPA CLGQPHTPGK PTSSCTSRSA PPGLQAPPPD DVDYATNPHV
121 KPPYSYATLI CMAMQASKAT KITLSAIYKW ITDNFCYFRH ADPTWQNSIR HNLSLNKCFI
181 KVPREKDEPG KGGFWRIDPQ YAERLLSGAF KKRRLPPVHI HPAFARQAAQ EPSAVPRAGP
241 LTVNTEAQQL LREFEEATGE AGWGAGEGRL GHKRKQPLPK RVAKVPRPPS TLLPTPEEQG
301 ELEPLKGNFD WEAIFDAGTL GGELGALEAL ELSPPLSPAS HVDVDLTIHG RHIDCPATWG
361 PSVEQAADSL DFDETFLATS FLQHPWDESG SGCLPPEPLF EAGDATLASD LQDWASVGAF
421 LLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FOXJ1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.62
- Highest tissue expression
- 70 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 70 nTPM
- fallopian tube: 50 nTPM
- testis: 16 nTPM
- hippocampal formation: 12 nTPM
- basal ganglia: 12 nTPM
- hypothalamus: 11 nTPM
Single-cell type
- fallopian tube ciliated cells: 586 nCPM
- epididymal efferent duct ciliated cells: 288 nCPM
- respiratory ciliated cells: 276 nCPM
- endometrial ciliated cells: 268 nCPM
- respiratory deuterosomal cells: 150 nCPM
- ependymal cells: 146 nCPM
Immune cell
- naive CD8 T-cell: 0.4 nTPM
- memory CD8 T-cell: 0.1 nTPM
- naive CD4 T-cell: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
Brain region
- choroid plexus: 157 nTPM
- midbrain: 83 nTPM
- medulla oblongata: 73 nTPM
- thalamus: 40 nTPM
- spinal cord: 38 nTPM
- hypothalamus: 29 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about FOXJ1.
Disease | AllUniProt
Conditions FOXJ1 is implicated in, by any mechanism.
- Allergic rhinitis (ALRH) MIM:607154
- Ciliary dyskinesia, primary, 43 (CILD43) MIM:618699
Disease | GeneticClinVar
10 pathogenic / likely-pathogenic of 130 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Ciliary dyskinesia, primary, 43
- FOXJ1-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.28
- gnomAD pLI
- 0.97
- gnomAD missense Z
- 0.7
- DepMap mean gene effect
- -0.01
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- actin cytoskeleton organization
- axoneme assembly
- brain development
- cell maturation
- ciliary basal body organization
- cilium assembly
- determination of left/right symmetry
- epithelium development
- establishment of apical/basal cell polarity
- heart development
- humoral immune response
- intracellular protein localization
- leukocyte migration
- lung epithelium development
- metanephric part of ureteric bud development
- motile cilium assembly
- negative regulation of B cell activation
- negative regulation of germinal center formation
- negative regulation of humoral immune response mediated by circulating immunoglobulin
- negative regulation of interleukin-6 production
- negative regulation of non-canonical NF-kappaB signal transduction
- negative regulation of T cell differentiation in thymus
- negative regulation of T cell proliferation
- negative regulation of transcription by RNA polymerase II
- pattern specification process
- positive regulation of lung ciliated cell differentiation
- positive regulation of transcription by RNA polymerase II
- regulation of transcription by RNA polymerase II
- spermatogenesis
- central tolerance induction
- glomerular parietal epithelial cell development
- positive regulation of central B cell tolerance induction
Molecular functions
- DNA binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- transcription cis-regulatory region binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Fork head domain
- Fork head domain conserved site1
- Fork head domain conserved site 2
- Winged helix-like DNA-binding domain superfamily
- Winged helix DNA-binding domain superfamily
- Forkhead domain
- Forkhead box protein J1, forkhead domain
- Forkhead box protein J1
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of FOXJ1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FOXJ1 as an antibody target. Whether an autoantibody or antibody against FOXJ1 could matter depends on whether native FOXJ1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FOXJ1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label FOXJ1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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