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    FOXJ1 forkhead box J1 [ Homo sapiens (human) ]

    Gene ID: 2302, updated on 2-Nov-2024

    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
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    Genomic context

    See FOXJ1 in Genome Data Viewer
    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_000017.11Genomic Context describing neighboring genes Neighboring gene exocyst complex component 7 Neighboring gene microRNA 6868 Neighboring gene uncharacterized LOC101928447 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74127821-74128482 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74128483-74129142 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74133109-74133770 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74133771-74134430 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74135093-74135752 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9003 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9004 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9005 Neighboring gene RNF157 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74140914-74141462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74141463-74142010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74143158-74143658 Neighboring gene ring finger protein 157 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:74162894-74164093 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74186853-74187352 Neighboring gene ATP synthase membrane subunit g pseudogene 6 Neighboring gene activating transcription factor 4 pseudogene 3

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    Interactions

    General gene information

    Clone Names

    • MGC35202

    Gene Ontology Provided by GOA

    Items 1 - 25 of 36
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization  
    involved_in activation of GTPase activity  
    involved_in axoneme assembly PubMed 
    involved_in brain development PubMed 
    involved_in brain development PubMed 
    involved_in cell maturation  
    involved_in central tolerance induction  
    involved_in ciliary basal body organization PubMed 
    involved_in cilium assembly PubMed 
    involved_in cilium assembly  
    involved_in determination of left/right symmetry PubMed 
    involved_in epithelium development PubMed 
    involved_in establishment of apical/basal cell polarity  
    involved_in glomerular parietal epithelial cell development PubMed 
    involved_in heart development  
    involved_in humoral immune response  
    involved_in leukocyte migration  
    involved_in lung epithelium development PubMed 
    involved_in lung epithelium development PubMed 
    involved_in metanephric part of ureteric bud development PubMed 
    involved_in motile cilium assembly  
    involved_in negative regulation of B cell activation  
    involved_in negative regulation of NF-kappaB transcription factor activity  
    involved_in negative regulation of T cell differentiation in thymus  
    involved_in negative regulation of T cell proliferation  
    involved_in negative regulation of germinal center formation  
    involved_in negative regulation of humoral immune response mediated by circulating immunoglobulin  
    involved_in negative regulation of interleukin-6 production  
    involved_in negative regulation of transcription by RNA polymerase II  
    involved_in pattern specification process  
    involved_in positive regulation of central B cell tolerance induction  
    involved_in positive regulation of lung ciliated cell differentiation PubMed 
    involved_in positive regulation of transcription by RNA polymerase II PubMed 
    involved_in protein localization PubMed 
    involved_in regulation of transcription by RNA polymerase II  
    involved_in spermatogenesis PubMed 
    Items 1 - 25 of 36
    Component Evidence Code Pubs
    located_in chromatin  
    is_active_in nucleus  
    located_in nucleus PubMed 

    General protein information

    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

    1. NG_013345.1 RefSeqGene

      Range
      5055..9967
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001454.4NP_001445.2  forkhead box protein J1

      See identical proteins and their annotated locations for NP_001445.2

      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:121205
      Forkhead; Forkhead domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      76136333..76141245 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435666.1XP_047291622.1  forkhead box protein J1 isoform X1

      UniProtKB/Swiss-Prot
      O00630, Q92949

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      77032876..77037788 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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