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    Foxc1 forkhead box C1 [ Mus musculus (house mouse) ]

    Gene ID: 17300, updated on 27-Nov-2024

    Summary

    Official Symbol
    Foxc1provided by MGI
    Official Full Name
    forkhead box C1provided by MGI
    Primary source
    MGI:MGI:1347466
    See related
    Ensembl:ENSMUSG00000050295 AllianceGenome:MGI:1347466
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    ch; Mf1; Mf4; Fkh1; fkh-1; FREAC3; frkhda
    Summary
    Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and promoter-specific chromatin binding activity. Involved in several processes, including cell surface receptor signaling pathway; endochondral ossification; and regulation of gene expression. Acts upstream of or within several processes, including cell surface receptor signaling pathway; circulatory system development; and collagen fibril organization. Located in nucleus. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; heart; and sensory organ. Used to study buphthalmos. Human ortholog(s) of this gene implicated in Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 3; anterior segment dysgenesis 3; and glaucoma. Orthologous to human FOXC1 (forkhead box C1). [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    NEW
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    Genomic context

    See Foxc1 in Genome Data Viewer
    Location:
    13 A3.2; 13 13.52 cM
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (31990629..31994618)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (31806646..31810635)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_34087 Neighboring gene STARR-seq mESC enhancer starr_34088 Neighboring gene predicted gene, 57597 Neighboring gene predicted gene 11379 Neighboring gene GDP-mannose 4, 6-dehydratase Neighboring gene STARR-seq mESC enhancer starr_34090 Neighboring gene 60S ribosomal protein L17-like Neighboring gene predicted gene, 52056

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1)  1 citation
    • Endonuclease-mediated (2) 
    • Spontaneous (1) 
    • Targeted (3)  1 citation

    Pathways from PubChem

    General gene information

    Markers

    Gene Ontology Provided by MGI

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

    General protein information

    Preferred Names
    forkhead box protein C1
    Names
    FREAC-3
    MF-1
    congenital hydrocephalus
    forkhead-related protein FKHL7
    forkhead-related transcription factor 3
    mesoderm/mesenchyme forkhead 1
    transcription factor FKH-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.

    mRNA and Protein(s)

    1. NM_008592.2NP_032618.2  forkhead box protein C1

      See identical proteins and their annotated locations for NP_032618.2

      Status: VALIDATED

      Source sequence(s)
      AL645783
      Consensus CDS
      CCDS26425.1
      UniProtKB/Swiss-Prot
      O88409, Q61572, Q61582, Q9QWR9
      Related
      ENSMUSP00000052196.3, ENSMUST00000062292.5
      Conserved Domains (1) summary
      smart00339
      Location:78166
      FH; FORKHEAD

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000079.7 Reference GRCm39 C57BL/6J

      Range
      31990629..31994618
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)