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

Gene ID: 17300, updated on 23-Apr-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 animal organ development; cell surface receptor signaling pathway; and regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including animal organ development; cell surface receptor signaling pathway; and vasculature development. Located in nucleus. Is expressed in several structures, including cardiovascular system; central nervous system; embryo mesenchyme; genitourinary system; 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, Apr 2022]
Orthologs
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Genomic context

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)
  • Spontaneous (1) 
  • Targeted (3)  1 citation
  • Chemically induced (ENU) (1)  1 citation
  • Endonuclease-mediated (2) 

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, bending ISO
Inferred from Sequence Orthology
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 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, 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 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 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 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
 
acts_upstream_of_or_within 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 population proliferation ISO
Inferred from Sequence Orthology
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 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 
acts_upstream_of_or_within multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
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 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
 
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
 
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 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 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 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
 
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 regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
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 ISO
Inferred from Sequence Orthology
more info
 
part_of heterochromatin ISO
Inferred from Sequence Orthology
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 

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)