Forkhead box C1

Forkhead box C1
PDB rendering based on 1d5v.
Available structures: 1d5v
Identifiers
Symbol(s)	FOXC1; ARA; FKHL7; FREAC3; IGDA; IHG1; IRID1
External IDs	OMIM: 601090 MGI: 1347466 Homologene: 20373
Gene ontology Molecular Function: • transcription factor activity • transcription factor binding • DNA bending activity • transcription activator activity • sequence-specific DNA binding Cellular Component: • nucleus • nuclear heterochromatin Biological Process: • ossification • eye development • transcription • regulation of transcription, DNA-dependent • heart development • odontogenesis (sensu Vertebrata) • positive regulation of transcription, DNA-dependent • negative regulation of progression through mitotic cell cycle
RNA expression pattern
More reference expression data
Orthologs
	Human	Mouse
Entrez	2296	17300
Ensembl	ENSG00000054598	ENSMUSG00000050295
Uniprot	Q12948	Q9QWR9
Refseq	NM_001453 (mRNA) NP_001444 (protein)	XM_993078 (mRNA) XP_998172 (protein)
Location	Chr 6: 1.56 - 1.56 Mb	Chr 13: 31.81 - 31.82 Mb
Pubmed search	[1]	[2]

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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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:<16::AID-DVDY4>3.0.CO;2-1 10.1002/(SICI)1097-0177(199909)216:1<16::AID-DVDY4>3.0.CO;2-1. PMID 10474162.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.

External links

• MeSH FOXC1+protein,+human

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