Format

Send to:

Choose Destination

FOXC1 forkhead box C1 [ Homo sapiens (human) ]

Gene ID: 2296, updated on 25-May-2017
Official Symbol
FOXC1provided by HGNC
Official Full Name
forkhead box C1provided by HGNC
Primary source
HGNC:HGNC:3800
See related
Ensembl:ENSG00000054598 MIM:601090; Vega:OTTHUMG00000016182
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
Location:
6p25.3
Exon count:
1
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (1610446..1613897)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (1610681..1614132)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986555 Neighboring gene uncharacterized LOC107986514 Neighboring gene FOXC1 upstream transcript (non-protein coding) Neighboring gene uncharacterized LOC107986513 Neighboring gene GDP-mannose 4,6-dehydratase

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Axenfeld-Rieger syndrome type 3
MedGen: C2678503 OMIM: 602482 GeneReviews: Not available
Compare labs
Iridogoniodysgenesis type1
MedGen: C1866560 OMIM: 601631 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-02-23)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-02-23)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

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

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

  • Heart Development, organism-specific biosystem (from WikiPathways)
    Heart Development, organism-specific biosystemThis pathway has been largely adapted from an article by Deepak Srivastava, Cell. 2006 Sep 22;126(6):1037-48. In this pathway are known transcription factors, miRNAs and regulatory proteins that impa...
  • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
    Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

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

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
    5001..8452
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001453.2NP_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
    ENSP00000370256.2, OTTHUMP00000017802, ENST00000380874.3, OTTHUMT00000043450
    Conserved Domains (1) summary
    smart00339
    Location:78166
    FH; FORKHEAD

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

    Range
    1610446..1613897
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    1612575..1616026
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center