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FOXC1 forkhead box C1 [ Homo sapiens (human) ]

Gene ID: 2296, updated on 26-Aug-2014
Official Symbol
FOXC1provided by HGNC
Official Full Name
forkhead box C1provided by HGNC
Primary source
HGNC:3800
See related
Ensembl:ENSG00000054598; HPRD:03054; 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; 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]
See FOXC1 in Epigenomics, MapViewer
Location:
6p25
Exon count:
1
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 LOC102723958 Neighboring gene FLJ46552 protein Neighboring gene FOXC1 upstream transcript (non-protein coding) 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)

ISCA Genome Curation Page
Haploinsufficency

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

ISCA 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 Protein 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

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
 
brain development 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
 
collagen fibril organization IEA
Inferred from Electronic Annotation
more info
 
embryonic heart tube development IEA
Inferred from Electronic Annotation
more info
 
eye development IDA
Inferred from Direct Assay
more info
PubMed 
germ cell migration IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
more info
 
lacrimal gland development IEA
Inferred from Electronic Annotation
more info
 
lymph vessel development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process involved in outflow tract morphogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of mitotic cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
neural crest cell development IEA
Inferred from Electronic Annotation
more info
 
odontogenesis of dentin-containing tooth IMP
Inferred from Mutant Phenotype
more info
PubMed 
ossification IEA
Inferred from Electronic Annotation
more info
 
ovarian follicle development IEA
Inferred from Electronic Annotation
more info
 
paraxial mesoderm formation IEA
Inferred from Electronic Annotation
more info
 
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 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 
skeletal system development IEA
Inferred from Electronic Annotation
more info
 
somitogenesis IEA
Inferred from Electronic Annotation
more info
 
transcription from RNA polymerase II promoter IBA
Inferred from Biological aspect of Ancestor
more info
 
transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
ureteric bud development IEA
Inferred from Electronic Annotation
more info
 
vascular endothelial growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
ventricular cardiac muscle tissue morphogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
nuclear heterochromatin IDA
Inferred from Direct Assay
more info
PubMed 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IC
Inferred by Curator
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
forkhead box protein C1
Names
forkhead box protein C1
myeloid factor-delta
forkhead box C1 protein
forkhead-related activator 3
forkhead-related protein FKHL7
forkhead, drosophila, homolog-like 7
forkhead-related transcription factor 3
forkhead/winged helix-like transcription factor 7

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 

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

mRNA and Protein(s)

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

    See proteins identical to NP_001444.2

    Status: REVIEWED

    Source sequence(s)
    AL034344
    Consensus CDS
    CCDS4473.1
    UniProtKB/Swiss-Prot
    Q12948
    UniProtKB/TrEMBL
    W6CJ52
    Related
    ENSP00000370256, OTTHUMP00000017802, ENST00000380874, OTTHUMT00000043450
    Conserved Domains (1) summary
    cd00059
    Location:78155
    Blast Score: 447
    FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

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

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    1480597..1483685
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

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