FOXC1 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
FOXC1
Official Name
forkhead box C1 [Source:HGNC Symbol;Acc:HGNC:3800]
Ensembl ID
ENSG00000054598
Bio databases IDs NCBI: 2296 Ensembl: ENSG00000054598
Aliases forkhead box C1
Synonyms ARA, ASGD3, ch, Fkh1, FKHL7, FLJ11796, FLJ11796 FIS, forkhead box C1, FREAC-3, frkhda, IGDA, IHG1, IRID1, Mf1, Mf4, RIEG3
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FOXC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
  • transcription regulator
  • FH_FOX
  • nucleic acid binding
  • DNA bending protein
  • transcription factor binding
  • chromatin binding
  • protein binding
  • sequence-specific DNA binding
  • DNA binding
  • Forkhead domain
  • FORKHEAD
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding
  • double-stranded DNA binding
  • transcription factor activity

Pathways

Biological processes and signaling networks where the FOXC1 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • epithelial cancer
  • rheumatoid arthritis
  • epithelial neoplasia
  • pelvic cancer
  • abdominal cancer
  • urogenital cancer
  • cancer
  • breast cancer
  • metastasis
  • axenfeld-rieger syndrome type 3
regulated by
  • MIR138
  • fat-1
  • PAGA
  • Lethal toxin
  • beta-estradiol
  • MESP2
  • FLNA
  • mir-204 (includes others)
  • LY294002
  • torkinib
regulates
role in cell
  • expression in
  • proliferation
  • differentiation
  • binding in
  • transactivation in
  • growth
  • downregulation in
  • migration
  • activation in
  • upregulation in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • heterochromatin
  • cytosol
  • nucleoplasm
  • chromatin

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human FOXC1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • negative regulation of angiogenesis
  • ventricular cardiac muscle tissue morphogenesis
  • positive regulation of DNA binding
  • in utero embryonic development
  • lacrimal gland development
  • positive regulation of transcription, DNA-dependent
  • kidney development
  • lymph vessel development
  • positive regulation of keratinocyte differentiation
  • neural crest cell development
  • cerebellum development
  • mesenchymal cell development
  • artery morphogenesis
  • negative regulation of mitotic cell cycle
  • regulation of organ growth
  • germ cell migration
  • cardiac muscle cell proliferation
  • glomerular epithelium development
  • vascular endothelial growth factor receptor signaling pathway
  • Notch signaling pathway
  • somitogenesis
  • positive regulation of gene expression
  • cellular response to epidermal growth factor stimulus
  • endochondral ossification
  • cell proliferation
  • anatomical structure morphogenesis
  • odontogenesis of dentin-containing tooth
  • apoptotic process involved in outflow tract morphogenesis
  • positive regulation of transcription from RNA polymerase II promoter
  • positive regulation of epithelial to mesenchymal transition
  • negative regulation of transcription from RNA polymerase II promoter
  • heart development
  • paraxial mesoderm formation
  • angiogenesis
  • camera-type eye development
  • cell migration
  • glycosaminoglycan metabolic process
  • vascular endothelial growth factor signaling pathway
  • regulation of transcription, DNA-dependent
  • embryonic heart tube development
  • regulation of transcription from RNA polymerase II promoter
  • ovarian follicle development
  • eye development
  • blood vessel remodeling
  • ureteric bud development
  • chemokine-mediated signaling pathway
  • cell differentiation
  • collagen fibril organization

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • heterochromatin
  • cytosol
  • chromatin
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • DNA binding
  • sequence-specific DNA binding transcription factor activity
  • protein binding
  • RNA polymerase II core promoter proximal region sequence-specific DNA binding
  • RNA polymerase II regulatory region sequence-specific DNA binding
  • DNA binding, bending
  • transcription regulatory region sequence-specific DNA binding
  • RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
  • sequence-specific DNA binding
  • sequence-specific DNA binding RNA polymerase II transcription factor activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.