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

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; AllianceGenome:HGNC:3800
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: mouse all
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Genomic context

Location:: 6p25.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (1609915..1613897)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (1472916..1476901)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (1610150..1614132)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

USP10 promotes pancreatic ductal adenocarcinoma progression by attenuating FOXC1 protein degradation to activate the WNT signaling pathway.
Title: USP10 promotes pancreatic ductal adenocarcinoma progression by attenuating FOXC1 protein degradation to activate the WNT signaling pathway.
FOXC1 transcriptionally suppresses ABHD5 to inhibit the progression of renal cell carcinoma through AMPK/mTOR pathway.
Title: FOXC1 transcriptionally suppresses ABHD5 to inhibit the progression of renal cell carcinoma through AMPK/mTOR pathway.
Proximal telomeric decompaction due to telomere shortening drives FOXC1-dependent myocardial senescence.
Title: Proximal telomeric decompaction due to telomere shortening drives FOXC1-dependent myocardial senescence.
Variants in FOXC1 and FOXC2 identified in patients with conotruncal heart defects.
Title: Variants in FOXC1 and FOXC2 identified in patients with conotruncal heart defects.
Reciprocal regulation of forkhead box C1 and L1 cell adhesion molecule contributes to triple-negative breast cancer progression.
Title: Reciprocal regulation of forkhead box C1 and L1 cell adhesion molecule contributes to triple-negative breast cancer progression.
Research progress on the regulatory mechanisms of FOXC1 expression in cancers and its role in drug resistance.
Title: Research progress on the regulatory mechanisms of FOXC1 expression in cancers and its role in drug resistance.
FoxC1 activates limbal epithelial stem cells following corneal epithelial debridement.
Title: FoxC1 activates limbal epithelial stem cells following corneal epithelial debridement.
Spectrum of white matter abnormalities associated with FOXC1-related disorders in two unrelated cases.
Title: Spectrum of white matter abnormalities associated with FOXC1-related disorders in two unrelated cases.
LCK, FOXC1 and hsa-miR-146a-5p as potential immune effector molecules associated with rheumatoid arthritis.
Title: LCK, FOXC1 and hsa-miR-146a-5p as potential immune effector molecules associated with rheumatoid arthritis.
Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome.
Title: Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (176)

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

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

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

EBI GWAS Catalog

Description
Polymorphic markers associated with severe oxaliplatin-induced, chronic peripheral neuropathy in colon cancer patients. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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

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
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction 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

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
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process involved in outflow tract morphogenesis	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
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
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	NAS Non-traceable Author Statement 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
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay 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
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

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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.