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FOXC1 forkhead box C1 [ Homo sapiens (human) ]

Gene ID: 2296, updated on 12-Sep-2021

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
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
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Genomic context

See FOXC1 in Genome Data Viewer
Location:
6p25.3
Exon count:
1
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (1609915..1613897)
105.20201022 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 uncharacterized LOC107986514 Neighboring gene FOXC1 upstream transcript Neighboring gene uncharacterized LOC107986513 Neighboring gene GDP-mannose 4,6-dehydratase

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
Polymorphic markers associated with severe oxaliplatin-induced, chronic peripheral neuropathy in colon cancer patients.
GeneReviews: Not available

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

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

Homology

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
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
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
 
enables transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
PubMed 
involved_in angiogenesis 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
PubMed 
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 
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
 
acts_upstream_of_or_within positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
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
PubMed 
involved_in regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
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
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in 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)

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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
    UniProtKB/TrEMBL
    W6CJ52
    Related
    ENSP00000493906.1, ENST00000645831.2
    Conserved Domains (1) summary
    smart00339
    Location:78166
    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_000006.12 Reference GRCh38.p13 Primary Assembly

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