FOXC1 forkhead box C1 [Homo sapiens (human)] - Gene

Summary

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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]

Genomic context

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Location :: 6p25

Sequence :: Chromosome: 6; NC_000006.11 (1610681..1614132)

See FOXC1 in Epigenomics, MapViewer

Chromosome 6 - NC_000006.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

High FOXC1 expression is associated with pancreatic ductal adenocarcinoma.
Title: High level of FOXC1 expression is associated with poor prognosis in pancreatic ductal adenocarcinoma.
High expression of FOXC1 is associated with non-small cell lung cancer patients.
Title: High expression of FOXC1 is associated with poor clinical outcome in non-small cell lung cancer patients.
FOXC1 deletions were observed in four cases of anterior segment dysgenesis and related conditions.
Title: PITX2 and FOXC1 spectrum of mutations in ocular syndromes.
overexpression of FoxC1 in hepatpcellular carcinoma is a strong indicator of more-aggressive tumors and poor clinical outcome.
Title: Overexpression of forkhead box C1 promotes tumor metastasis and indicates poor prognosis in hepatocellular carcinoma.
Our data confirm that FOXC1 haploinsufficiency plays a major role in the phenotype of patients with 6p25 deletions.
Title: Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.
FOXC1 contributes to microvascular invasion in primary hepatocellular carcinoma via regulating epithelial-mesenchymal transition.
Title: FOXC1 contributes to microvascular invasion in primary hepatocellular carcinoma via regulating epithelial-mesenchymal transition.
FOXC1 regulates the functions of human basal-like breast cancer cells by activating NF-kappaB signaling.
Title: FOXC1 regulates the functions of human basal-like breast cancer cells by activating NF-κB signaling.
No significant associations were identified between FOXC1, TGFbeta2, and BMP4 alleles and haplotypes and primary open-angle glaucoma.
Title: Common TGFβ2, BMP4, and FOXC1 variants are not associated with primary open-angle glaucoma.
the BRCA1-GATA3 interaction is important for the repression of genes associated with triple-negative and basal-like breast cancer (BLBCs) including FOXC1
Title: BRCA1 and GATA3 corepress FOXC1 to inhibit the pathogenesis of basal-like breast cancers.
Findings identify MMP7 as a novel mechanism through which FOXC1 may regulate the basal-like breast cancer invasive phenotype and the propensity of these cancers to metastasize.
Title: The forkhead box transcription factor FOXC1 promotes breast cancer invasion by inducing matrix metalloprotease 7 (MMP7) expression.

Submit: New GeneRIF Correction See all (58)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Axenfeld-Rieger syndrome type 3

MIM: 602482

Genetic Testing Registry

NHGRI GWAS Catalog

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

HIV-1 protein interactions

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Protein	Gene	Interaction	Pubs
pol	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

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
Q12948	P09429	HMGB1	HPRD	PubMed
BioGRID:108585	BioGRID:108309	ELAVL1	BioGRID	PubMed	Affinity Capture-RNA
BioGRID:108585	BioGRID:112497	SUMO2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108585	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108585	BioGRID:1205538	gag-pol	BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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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...

General gene information

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Markers

RH80486 (e-PCR)
- UniSTS:92444

STS-N22552 (e-PCR)
- UniSTS:65070

NoName (e-PCR)
- UniSTS:480885

RH102339 (e-PCR)
- UniSTS:96673

STS-N25875 (e-PCR)
- UniSTS:82144

Genotypes

See FOXC1 SNP Geneview Report
See FOXC1 SNP Genotype Report
See FOXC1 SNP Variation Viewer Report

Homology

Homologs of the FOXC1 gene: The FOXC1 gene is conserved in chimpanzee, Rhesus monkey, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

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 distal enhancer sequence-specific DNA binding transcription factor activity	IBA Inferred from Biological aspect of Ancestor more info
chromatin DNA binding	IBA Inferred from Biological aspect of Ancestor more info
double-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
sequence-specific DNA binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
transcription regulatory region DNA binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
Notch signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
artery morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
blood vessel remodeling	IBA Inferred from Biological aspect of Ancestor more info
brain development	IBA Inferred from Biological aspect of Ancestor more info
camera-type eye development	IBA Inferred from Biological aspect of Ancestor more info
cardiac muscle cell proliferation	IBA Inferred from Biological aspect of Ancestor more info
collagen fibril organization	IBA Inferred from Biological aspect of Ancestor more info
embryonic heart tube development	IBA Inferred from Biological aspect of Ancestor more info
eye development	IDA Inferred from Direct Assay more info	PubMed
germ cell migration	IBA Inferred from Biological aspect of Ancestor more info
glycosaminoglycan metabolic process	IBA Inferred from Biological aspect of Ancestor more info
heart development	IDA Inferred from Direct Assay more info	PubMed
in utero embryonic development	IEA Inferred from Electronic Annotation more info
lacrimal gland development	IBA Inferred from Biological aspect of Ancestor more info
lymphangiogenesis	IBA Inferred from Biological aspect of Ancestor more info
metanephros development	IBA Inferred from Biological aspect of Ancestor more info
negative regulation of apoptotic process	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
neural crest cell fate commitment	IBA Inferred from Biological aspect of Ancestor more info
odontogenesis of dentin-containing tooth	IMP Inferred from Mutant Phenotype more info	PubMed
ossification	IBA Inferred from Biological aspect of Ancestor more info
ovarian follicle development	IBA Inferred from Biological aspect of Ancestor more info
paraxial mesodermal cell fate commitment	IBA Inferred from Biological aspect of Ancestor more info
positive regulation of transcription from RNA polymerase II promoter	IBA Inferred from Biological aspect of Ancestor 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-dependent	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription, DNA-dependent	NAS Non-traceable Author Statement more info	PubMed
regulation of blood vessel size	IBA Inferred from Biological aspect of Ancestor more info
regulation of organ growth	IBA Inferred from Biological aspect of Ancestor more info
regulation of sequence-specific DNA binding transcription factor activity	IBA Inferred from Biological aspect of Ancestor more info
regulation of transcription, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed
skeletal system development	IEA Inferred from Electronic Annotation more info
somitogenesis	IBA Inferred from Biological aspect of Ancestor more info
ureteric bud development	IBA Inferred from Biological aspect of Ancestor more info
vascular endothelial growth factor receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
vasculogenesis	IBA Inferred from Biological aspect of Ancestor more info
ventricular cardiac muscle tissue morphogenesis	IBA Inferred from Biological aspect of Ancestor 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
transcription factor complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: forkhead box protein C1

Names: forkhead box protein C1; myeloid factor-delta; 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

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

NG_009368.1 RefSeqGene

Range

5001..8452

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001453.2 → NP_001444.2 forkhead box protein C1

Status: REVIEWED

Source sequence(s)

AL034344

Consensus CDS

CCDS4473.1

UniProtKB/Swiss-Prot

Q12948

Related

ENSP00000370256, OTTHUMP00000017802, ENST00000380874, OTTHUMT00000043450

Conserved Domains (1) summary

cd00059
Location:78 – 155
Blast Score: 395

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 as ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000006.11 Reference GRCh37.p10 Primary Assembly

Range

1610681..1614132

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000138.1 Alternate HuRef

Range

1480597..1483685

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018917.1 Alternate CHM1_1.0

Range

1542139..1545696

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01048644.1 (231..3319)	None
genomic	AF048693.1	AAC18081.1
genomic	AF078096.1	AAC72915.1
genomic	AL034344.24 (65159..68611)	None
genomic	AMYH01016019.1 (611..4168)	None
genomic	AY228703.1	None
genomic	AY228704.1	AAP15181.1
genomic	AY228705.1	None
genomic	CH471087.1	EAW55074.1
genomic	GQ282997.1	ACS83750.1
mRNA	AK021858.1	None
mRNA	BC134421.1	AAI34422.1
mRNA	L12143.1	AAK13575.1
mRNA	U13221.1	AAA92038.1
other-genetic	BC169306.1	AAI69306.2
other-genetic	BC169307.1	AAI69307.2