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    FOXF1 forkhead box F1 [ Homo sapiens (human) ]

    Gene ID: 2294, updated on 27-Jun-2015
    Official Symbol
    FOXF1provided by HGNC
    Official Full Name
    forkhead box F1provided by HGNC
    Primary source
    HGNC:HGNC:3809
    See related
    HPRD:03053; 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]
    Orthologs
    See FOXF1 in Epigenomics, MapViewer
    Location:
    16q24
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (86510527..86514464)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (86544133..86548070)

    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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Alveolar capillary dysplasia with misalignment of pulmonary veins
    MedGen: C0031190 OMIM: 265380 GeneReviews: Not available
    Compare labs

    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

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.
    NHGRI GWA Catalog
    Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.
    NHGRI GWA Catalog
    Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
    NHGRI GWA Catalog
    Identification of a candidate gene for astigmatism.
    NHGRI GWA Catalog

    Markers

    Homology

    Clone Names

    • MGC105125

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    blood vessel development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    branching involved in open tracheal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cardiac left ventricle morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cellular response to cytokine stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    detection of wounding IEA
    Inferred from Electronic Annotation
    more info
     
    determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
     
    digestive tract development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ductus arteriosus closure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    embryonic digestive tract morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    embryonic ectodermal digestive tract morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    embryonic foregut morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    endocardial cushion development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    epithelial cell differentiation involved in mammary gland alveolus development IEA
    Inferred from Electronic Annotation
    more info
     
    epithelial tube branching involved in lung morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    establishment of epithelial cell apical/basal polarity IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular matrix organization IEA
    Inferred from Electronic Annotation
    more info
     
    heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lateral mesodermal cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    lung alveolus development IEA
    Inferred from Electronic Annotation
    more info
     
    lung development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lung lobe morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    lung vasculature development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mesenchyme migration IEA
    Inferred from Electronic Annotation
    more info
     
    midgut development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    morphogenesis of a branching structure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of mast cell degranulation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    pancreas development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell-substrate adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of mesenchymal cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of smooth muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    renal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    respiratory tube development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    right lung morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    single organismal cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    smooth muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    trachea development IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ureter development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    vasculogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    venous blood vessel development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    nucleus IC
    Inferred by Curator
    more info
    PubMed 
    transcription factor complex TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    forkhead box protein F1
    Names
    forkhead box protein F1
    FREAC-1
    Forkhead, drosophila, homolog-like 5
    forkhead-related activator 1
    forkhead-related protein FKHL5
    forkhead-related transcription factor 1

    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..8938
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_001442.2

      Status: REVIEWED

      Source sequence(s)
      BC089442, CA438612, DB011539
      Consensus CDS
      CCDS10957.2
      UniProtKB/Swiss-Prot
      Q12946
      Conserved Domains (1) summary
      cd00059
      Location:48125
      FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

      Range
      86510527..86514464
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      87955849..87959786
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)