FOXJ1 forkhead box J1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FOXJ1provided by HGNC
Official Full Name: forkhead box J1provided by HGNC
Primary source: HGNC:HGNC:3816
See related: Ensembl:ENSG00000129654 MIM:602291; AllianceGenome:HGNC:3816
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HFH4; HFH-4; CILD43; FKHL13
Summary: 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]
Expression: Biased expression in lung (RPKM 6.3), testis (RPKM 5.4) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (76136333..76141245, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (77032876..77037788, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (74132414..74137326, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Congenital heart defects caused by FOXJ1.
Title: Congenital heart defects caused by FOXJ1.
Down-expression of Foxj1 on airway epithelium with impaired cilia architecture in non-cystic fibrosis bronchiectasis implies disease severity.
Title: Down-expression of Foxj1 on airway epithelium with impaired cilia architecture in non-cystic fibrosis bronchiectasis implies disease severity.
Increased FOXJ1 protein expression is associated with improved overall survival in high-grade serous ovarian carcinoma: an Ovarian Tumor Tissue Analysis Consortium Study.
Title: Increased FOXJ1 protein expression is associated with improved overall survival in high-grade serous ovarian carcinoma: an Ovarian Tumor Tissue Analysis Consortium Study.
Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus.
Title: Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus.
Androglobin gene expression patterns and FOXJ1-dependent regulation indicate its functional association with ciliogenesis.
Title: Androglobin gene expression patterns and FOXJ1-dependent regulation indicate its functional association with ciliogenesis.
Knockdown of FOXJ1 inhibits the proliferation, migration, invasion, and glycolysis in laryngeal squamous cell carcinoma cells.
Title: Knockdown of FOXJ1 inhibits the proliferation, migration, invasion, and glycolysis in laryngeal squamous cell carcinoma cells.
Heterozygous de novo mutations in FOXJ1.
Title: De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.
TIM-3 and FOXJ1 exhibited abnormally high expression levels in prostate cancer.
Title: Significance of the detection of TIM-3 and FOXJ1 in prostate cancer.
Downregulation and aberrant localization of FOXJ1 may be crucial characteristics of the allergic nasal mucosa.
Title: Downregulation and Aberrant Localization of Forkhead Box J1 in Allergic Nasal Mucosa.
Our findings provide clues regarding the role of FOXJ1 as a tumor inducer in bladder cancer and an enhancer in glycolysis. Targeting FOXJ1 could be a potential therapeutic strategy in bladder cancer.
Title: FOXJ1 promotes bladder cancer cell growth and regulates Warburg effect.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ciliary dyskinesia, primary, 43 MedGen: C5231466 OMIM: 618699 GeneReviews: Not available	Compare labs

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	NAS Non-traceable Author Statement more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity	NAS Non-traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in activation of GTPase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in axoneme assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in brain development	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in brain development	NAS Non-traceable Author Statement more info	PubMed
involved_in cell maturation	IEA Inferred from Electronic Annotation more info
involved_in central tolerance induction	ISS Inferred from Sequence or Structural Similarity more info
involved_in ciliary basal body organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelium development	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in establishment of apical/basal cell polarity	ISS Inferred from Sequence or Structural Similarity more info
involved_in glomerular parietal epithelial cell development	IEP Inferred from Expression Pattern more info	PubMed
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in humoral immune response	ISS Inferred from Sequence or Structural Similarity more info
involved_in leukocyte migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in lung epithelium development	IEP Inferred from Expression Pattern more info	PubMed
involved_in lung epithelium development	NAS Non-traceable Author Statement more info	PubMed
involved_in metanephric part of ureteric bud development	IEP Inferred from Expression Pattern more info	PubMed
involved_in motile cilium assembly	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of B cell activation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of NF-kappaB transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of T cell differentiation in thymus	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of germinal center formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of humoral immune response mediated by circulating immunoglobulin	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of interleukin-6 production	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in pattern specification process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of central B cell tolerance induction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of lung ciliated cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermatogenesis	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: forkhead box protein J1

Names: fork head homologue 4; forkhead transcription factor HFH-4; forkhead-like 13; forkhead-related protein FKHL13; hepatocyte nuclear factor 3 forkhead homolog 4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013345.1 RefSeqGene

Range

5055..9967

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001454.4 → NP_001445.2 forkhead box protein J1

Status: REVIEWED

Source sequence(s)

BC046460

Consensus CDS

CCDS32739.1

UniProtKB/Swiss-Prot

O00630, Q92949

Related

ENSP00000323880.4, ENST00000322957.7

Conserved Domains (1) summary

pfam00250
Location:121 → 205

Forkhead; Forkhead domain