FOXC1

FOXC1
Identifiers
Aliases	FOXC1, ARA, FKHL7, FREAC-3, FREAC3, IGDA, IHG1, IRID1, RIEG3, forkhead box C1
External IDs	MGI: 1347466 HomoloGene: 20373 GeneCards: FOXC1
Gene ontology Molecular function • DNA binding • sequence-specific DNA binding • RNA polymerase II regulatory region sequence-specific DNA binding • transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding • protein binding • transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding • RNA polymerase II transcription factor activity, sequence-specific DNA binding • DNA binding, bending • transcription coactivator binding • transcription coactivator activity • transcription factor binding • promoter-specific chromatin binding • transcription factor activity, sequence-specific DNA binding • transcription regulatory region DNA binding Cellular component • nucleoplasm • nuclear heterochromatin • nucleus • cytosol Biological process • eye development • somitogenesis • Notch signaling pathway • skeletal system development • glycosaminoglycan metabolic process • positive regulation of hematopoietic progenitor cell differentiation • regulation of blood vessel size • regulation of transcription, DNA-templated • neural crest cell development • paraxial mesoderm formation • ossification • vascular endothelial growth factor signaling pathway • collagen fibril organization • maintenance of lens transparency • heart morphogenesis • in utero embryonic development • cardiac muscle cell proliferation • lymph vessel development • transcription, DNA-templated • embryonic heart tube development • positive regulation of hematopoietic stem cell differentiation • odontogenesis of dentin-containing tooth • positive regulation of transcription, DNA-templated • ventricular cardiac muscle tissue morphogenesis • heart development • blood vessel remodeling • brain development • vascular endothelial growth factor receptor signaling pathway • negative regulation of lymphangiogenesis • blood vessel development • positive regulation of gene expression • mesenchymal cell differentiation • mesenchymal cell development • artery morphogenesis • ovarian follicle development • negative regulation of angiogenesis • camera-type eye development • regulation of organ growth • germ cell migration • lacrimal gland development • negative regulation of mitotic cell cycle • negative regulation of apoptotic process involved in outflow tract morphogenesis • transcription from RNA polymerase II promoter • endochondral ossification • cell proliferation • positive regulation of epithelial to mesenchymal transition • cell migration • positive regulation of DNA binding • positive regulation of transcription from RNA polymerase II promoter • cellular response to epidermal growth factor stimulus • positive regulation of core promoter binding • negative regulation of transcription from RNA polymerase II promoter • cerebellum development • positive regulation of keratinocyte differentiation • glomerular epithelium development • ureteric bud development • kidney development • chemokine-mediated signaling pathway • cellular response to chemokine Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2296	17300
Ensembl	ENSG00000054598	ENSMUSG00000050295
UniProt	Q12948	Q61572
RefSeq (mRNA)	NM_001453	NM_008592
RefSeq (protein)	NP_001444	NP_032618.2 NP_032618
Location (UCSC)	Chr 6: 1.61 – 1.61 Mb	Chr 13: 31.81 – 31.81 Mb
PubMed search

2296

17300

ENSG00000054598

ENSMUSG00000050295

Q12948

Q61572

NM_001453

NM_008592

NP_001444

NP_032618.2
NP_032618

Forkhead box C1, also known as FOXC1, is a protein which in humans is encoded by the FOXC1 gene.

This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding fork head 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.

FOXC1 and its close relative, FOXC2 are both critical components in the development of the heart and blood vessels, as well as the segmentation of the paraxial mesoderm and the formation of somites. Expression of the Fox proteins range from low levels in the posterior pre-somitic mesoderm (PSM) to the highest levels in the anterior PSM. Homozygous mutant embryos for both Fox proteins failed to form somites 1-8, which indicates the importance of these proteins early on in somite development.

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