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    FOXC1 forkhead box C1 [ Homo sapiens (human) ]

    Gene ID: 2296, updated on 5-May-2024

    Summary

    Official Symbol
    FOXC1provided by HGNC
    Official Full Name
    forkhead box C1provided by HGNC
    Primary source
    HGNC:HGNC:3800
    See related
    Ensembl:ENSG00000054598 MIM:601090; AllianceGenome:HGNC:3800
    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
    ARA; IGDA; IHG1; ASGD3; FKHL7; IRID1; RIEG3; FREAC3; FREAC-3
    Summary
    This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development. Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly. [provided by RefSeq, Jul 2008]
    Orthologs
    NEW
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    Genomic context

    Location:
    6p25.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (1609915..1613897)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (1472916..1476901)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (1610150..1614132)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986555 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:1576654-1577427 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:1586829-1587011 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:1594421-1594938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:1596143-1596696 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:1597733-1597967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16822 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16823 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:1606326-1606826 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:1606827-1607327 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:1607685-1608194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23864 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:1613862-1614479 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:1614480-1615096 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:1618844-1619706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23865 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:1629302-1630229 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:1630230-1631156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:1633959-1634459 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:1636810-1637341 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:1644131-1645078 Neighboring gene uncharacterized LOC107986514 Neighboring gene FOXC1 upstream transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23866 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23867 Neighboring gene GDP-mannose 4,6-dehydratase Neighboring gene NANOG hESC enhancer GRCh37_chr6:1729872-1730373 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23868 Neighboring gene uncharacterized LOC124901239

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Anterior segment dysgenesis 3
    MedGen: C1866560 OMIM: 601631 GeneReviews: Not available
    Compare labs
    Axenfeld-Rieger syndrome type 3
    MedGen: C2678503 OMIM: 602482 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-07-29)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-07-29)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Polymorphic markers associated with severe oxaliplatin-induced, chronic peripheral neuropathy in colon cancer patients.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with forkhead box C1 (FOXC1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA binding, bending IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity IMP
    Inferred from Mutant Phenotype
    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 DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables promoter-specific chromatin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription cis-regulatory region binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in anatomical structure morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in apoptotic process involved in outflow tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in artery morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in blood vessel diameter maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in blood vessel remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in camera-type eye development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to chemokine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to epidermal growth factor stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cerebellum development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in chemokine-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in collagen fibril organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic heart tube development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endochondral ossification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within eye development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in germ cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glomerular epithelium development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glycosaminoglycan metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within heart development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in kidney development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lacrimal gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lymph vessel development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in maintenance of lens transparency ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mesenchymal cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of angiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of apoptotic process involved in outflow tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of lymphangiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neural crest cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in odontogenesis of dentin-containing tooth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ovarian follicle development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in paraxial mesoderm formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of core promoter binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of epithelial to mesenchymal transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of hematopoietic progenitor cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of hematopoietic stem cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of keratinocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of organ growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ureteric bud development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in vascular endothelial growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vascular endothelial growth factor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ventricular cardiac muscle tissue morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    part_of heterochromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IC
    Inferred by Curator
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    forkhead box protein C1
    Names
    forkhead box C1 protein
    forkhead, drosophila, homolog-like 7
    forkhead-related activator 3
    forkhead-related protein FKHL7
    forkhead-related transcription factor 3
    forkhead/winged helix-like transcription factor 7
    myeloid factor-delta

    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_009368.1 RefSeqGene

      Range
      4470..8452
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1245

    mRNA and Protein(s)

    1. NM_001453.3NP_001444.2  forkhead box protein C1

      See identical proteins and their annotated locations for NP_001444.2

      Status: REVIEWED

      Source sequence(s)
      AL034344
      Consensus CDS
      CCDS4473.1
      UniProtKB/Swiss-Prot
      Q12948, Q86UP7, Q9BYM1, Q9NUE5, Q9UDD0, Q9UP06
      UniProtKB/TrEMBL
      C6KMR8, W6CJ52
      Related
      ENSP00000493906.1, ENST00000645831.2
      Conserved Domains (1) summary
      smart00339
      Location:78166
      FH; FORKHEAD

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      1609915..1613897
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      1472916..1476901
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)