Forkhead box C1

Forkhead box C1
PDB rendering based on 1d5v.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1d5v​
Identifiers
Symbols	FOXC1 ; ARA; FKHL7; FREAC3; IGDA; IHG1; IRID1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 20373
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Forkhead box C1, also known as FOXC1, is a human gene.

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.

See also

• FOX proteins

Further reading

• Sperling R, Bustin M (1975). "Dynamic equilibrium in histone assembly: self-assembly of single histones and histone pairs". Biochemistry. 14 (15): 3322–31. PMID 1170889.
• Pierrou S, Hellqvist M, Samuelsson L; et al. (1994). "Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending". EMBO J. 13 (20): 5002–12. PMID 7957066.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hromas R, Moore J, Johnston T; et al. (1993). "Drosophila forkhead homologues are expressed in a lineage-restricted manner in human hematopoietic cells". Blood. 81 (11): 2854–9. PMID 8499623.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Larsson C, Hellqvist M, Pierrou S; et al. (1997). "Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12)". Genomics. 30 (3): 464–9. doi:10.1006/geno.1995.1266. PMID 8825632.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Longhurst TJ, O'Neill GM, Harvie RM, Davey RA (1996). "The anthracycline resistance-associated (ara) gene, a novel gene associated with multidrug resistance in a human leukaemia cell line". Br. J. Cancer. 74 (9): 1331–5. PMID 8912525.CS1 maint: Multiple names: authors list (link)
• Mears AJ, Mirzayans F, Gould DB; et al. (1997). "Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25". Am. J. Hum. Genet. 59 (6): 1321–7. PMID 8940278.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gould DB, Mears AJ, Pearce WG, Walter MA (1997). "Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25". Am. J. Hum. Genet. 61 (3): 765–8. PMID 9326342.CS1 maint: Multiple names: authors list (link)
• Jordan T, Ebenezer N, Manners R; et al. (1997). "Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly". Am. J. Hum. Genet. 61 (4): 882–8. PMID 9382099.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nishimura DY, Swiderski RE, Alward WL; et al. (1998). "The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25". Nat. Genet. 19 (2): 140–7. doi:10.1038/493. PMID 9620769.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mears AJ, Jordan T, Mirzayans F; et al. (1998). "Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly". Am. J. Hum. Genet. 63 (5): 1316–28. PMID 9792859.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Swiderski RE, Reiter RS, Nishimura DY; et al. (1999). "Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects". Dev. Dyn. 216 (1): 16–27. doi:10.1002/(SICI)1097-0177(199909)216:1<16::AID-DVDY4>3.0.CO;2-1. PMID 10474162.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mirzayans F, Gould DB, Héon E; et al. (2000). "Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25". Eur. J. Hum. Genet. 8 (1): 71–4. doi:10.1038/sj.ejhg.5200354. PMID 10713890.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lehmann OJ, Ebenezer ND, Jordan T; et al. (2000). "Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma". Am. J. Hum. Genet. 67 (5): 1129–35. PMID 11007653.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nishimura DY, Searby CC, Alward WL; et al. (2001). "A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye". Am. J. Hum. Genet. 68 (2): 364–72. PMID 11170889.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wang WH, McNatt LG, Shepard AR; et al. (2001). "Optimal procedure for extracting RNA from human ocular tissues and expression profiling of the congenital glaucoma gene FOXC1 using quantitative RT-PCR". Mol. Vis. 7: 89–94. PMID 11320352.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kawase C, Kawase K, Taniguchi T; et al. (2002). "Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients". J. Glaucoma. 10 (6): 477–82. PMID 11740218.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Dintilhac A, Bernués J (2002). "HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences". J. Biol. Chem. 277 (9): 7021–8. doi:10.1074/jbc.M108417200. PMID 11748221.
• Berry FB, Saleem RA, Walter MA (2002). "FOXC1 transcriptional regulation is mediated by N- and C-terminal activation domains and contains a phosphorylated transcriptional inhibitory domain". J. Biol. Chem. 277 (12): 10292–7. doi:10.1074/jbc.M110266200. PMID 11782474.CS1 maint: Multiple names: authors list (link)
• Borges AS, Susanna R, Carani JC; et al. (2002). "Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil". J. Glaucoma. 11 (1): 51–6. PMID 11821690.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Freyaldenhoven BS, Fried C, Wielckens K (2003). "FOXD4a and FOXD4b, two new winged helix transcription factors, are expressed in human leukemia cell lines". Gene. 294 (1–2): 131–140. PMID 12234674.CS1 maint: Multiple names: authors list (link)

External links

• FOXC1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.