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    FOXF1 forkhead box F1 [ Homo sapiens (human) ]

    Gene ID: 2294, updated on 13-Jun-2021

    Summary

    Official Symbol
    FOXF1provided by HGNC
    Official Full Name
    forkhead box F1provided by HGNC
    Primary source
    HGNC:HGNC:3809
    See related
    Ensembl:ENSG00000103241 MIM:601089
    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
    FKHL5; ACDMPV; FREAC1
    Summary
    This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the regulation of pulmonary genes as well as embryonic development. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in lung (RPKM 22.1), urinary bladder (RPKM 21.5) and 12 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See FOXF1 in Genome Data Viewer
    Location:
    16q24.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (86510527..86515422)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (86544133..86549028)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene chloride intracellular channel 1 pseudogene Neighboring gene FOXF1 adjacent non-coding developmental regulatory RNA Neighboring gene ribosomal protein L7a pseudogene 63 Neighboring gene methenyltetrahydrofolate synthetase domain containing Neighboring gene uncharacterized protein FLJ30679

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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
    A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.
    GeneReviews: Not available
    Alveolar capillary dysplasia with pulmonary venous misalignment
    MedGen: C2960310 OMIM: 265380 GeneReviews: Not available
    Compare labs
    Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.
    GeneReviews: Not available
    Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
    GeneReviews: Not available
    Identification of a candidate gene for astigmatism.
    GeneReviews: Not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2013-06-20)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2013-06-20)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC105125

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in animal organ morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in blood vessel development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac left ventricle morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to cytokine stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in detection of wounding IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in digestive tract development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ductus arteriosus closure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in embryonic digestive tract morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in embryonic ectodermal digestive tract morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in embryonic foregut morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endocardial cushion development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in epithelial cell differentiation involved in mammary gland alveolus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial tube branching involved in lung morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of epithelial cell apical/basal polarity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in extracellular matrix organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lateral mesodermal cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung alveolus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lung lobe morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung vasculature development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mesenchyme migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in midgut development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in morphogenesis of a branching structure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of mast cell degranulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pancreas development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell-substrate adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of mesenchymal cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in respiratory tube development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in right lung morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in smooth muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in trachea development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ureter development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in vasculogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in venous blood vessel development IMP
    Inferred from Mutant Phenotype
    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
    PubMed 
    located_in nucleus IC
    Inferred by Curator
    more info
    PubMed 
    part_of transcription regulator complex TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    forkhead box protein F1
    Names
    FREAC-1
    Forkhead, drosophila, homolog-like 5
    forkhead-related activator 1
    forkhead-related protein FKHL5
    forkhead-related transcription factor 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_016273.1 RefSeqGene

      Range
      5001..9896
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001451.3NP_001442.2  forkhead box protein F1

      See identical proteins and their annotated locations for NP_001442.2

      Status: REVIEWED

      Source sequence(s)
      AC009108, BC089442, CA438612, DB011539
      Consensus CDS
      CCDS10957.2
      UniProtKB/Swiss-Prot
      Q12946
      Related
      ENSP00000262426.4, ENST00000262426.6
      Conserved Domains (1) summary
      smart00339
      Location:48136
      FH; FORKHEAD

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      86510527..86515422
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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