Forkhead box C1

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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
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.[1]

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.[1]

Contents

[edit] See also

[edit] References

  1. ^ a b Entrez Gene: FOXC1 forkhead box C1.

[edit] 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: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. 

[edit] External links

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

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v • d • e
Transcription factors and intracellular receptors
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
Activating transcription factor (AATF, 1, 2, 3, 4, 5, 6, 7) • AP-1 (c-Fos, FOSB, FOSL1, FOSL2, c-Jun, JUNB, JUND) • BACH (1, 2) • BATF • BLZF1 • C/EBP (α, β, γ, δ, ε, ζ) • CREB (1, 3, L1) • CREM • DBP • DDIT3 • GABPA • HLF • MAF (B, F, G, K) • NFE (2, L1, L2) • NRL • NRF1 • XBP1
(1.2) Basic helix-loop-helix (bHLH)
ATOH1 • AhR • AHRR • ARNT • ASCL1 • BHLHB2 • BMAL (ARNTL, ARNTL2) • CLOCK • EPAS1 • HAND (1, 2) • HES (5, 6) • HEY (1, 2, L) • HES1 • HIF (1A, 3A) • ID (1, 2, 3, 4) • LYL1 • MXD4 • MYCL1 • MYCN • Myogenic regulatory factors (MyoD, Myogenin, MYF5, MYF6) • Neurogenins • NeuroD (1, 2) • NPAS (1, 2, 3) • OLIG (1, 2) • Scleraxis • TAL1 • Twist • USF1
(1.3) bHLH-ZIP
MAX • MITF • MNT • MLX • MXI1 • Myc • SREBP (1, 2)
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger
DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1 (Thyroid hormone (α, β), CAR, FXR, LXR (α, β), PPAR (α, β/δ, γ), PXR, RAR (α, β, γ), ROR (α, β, γ), Rev-ErbA (α, β), VDR) • subfamily 2 (COUP-TF (I, II), Ear-2, HNF4 (α, γ), PNR, RXR (α, β, γ), Testicular receptor (2, 4), TLX) • subfamily 3 (Steroid hormone (Estrogen (α, β), Estrogen related (α, β, γ), Androgen, Glucocorticoid, Mineralocorticoid, Progesterone)) • subfamily 4 NUR (NGFIB, NOR1, NURR1) • subfamily 5 (LRH-1, SF1) • subfamily 6 (GCNF) • subfamily 0 (DAX1, SHP)
(2.2) Other Cys4
GATA (1, 2, 3, 4, 5, 6) • MTA (1, 2, 3)
(2.3) Cys2His2
ATBF1 • BCL(6, 11A, 11B) • CTCF • E4F1 • EGR (2, 3) • ERV3 • General transcription factors (TFIIA, TFIIB, TFIID, TFIIE, TFIIF: 1, 2, TFIIH: 1, 2, 4, 2I, 3A, 3C1, 3C2) • GFI1 • GLI-Krüppel family (1, 2, 3, YY1) • HIC (1, 2) • HIVEP (1, 2, 3) • IKZF (1, 2, 3) • ILF (2, 3) • KLF (2, 4, 5, 6, 9, 10, 11, 12, 13) • MTF1 • MYT1 • OSR1 • Sp1 • zinc finger ((3, 7, 9, 10, 19, 22, 24, 33B, 34, 35, 41, 43, 44, 51, 74, 143, 146, 148, 165, 202, 217, 219, 238, 239, 259, 267, 268, 281, 295, 318, 330, 346, 350, 365, 366, 384, 451, 452, 471, 593, 638, 649, 655) • Zbtb7 (7A) • ZBT (16, 17, 33)
(2.4) Cys6
(2.5) Alternating composition
AIRE • DIDO1 • GRLF1 • ING (1, 2, 4) • JARID (1A, 1B, 1C, 1D, 2) • JMJD1B
(3) Helix-turn-helix
domains
ARX • CDX (1, 2) • CRX • CUTL1 • DLX (3, 4, 5) • EMX2 • EN (1, 2) • FHL (1, 2, 3) • HESX1 • HHEX • HLX • Homeobox (A1, A3, A4, A5, A7, A9, A10, A11, A13, B1, B2, B3, B4, B5, B6, B7, B8, B9, B13, C4, C5, C6, C8, C9, C10, C11, C13, D1, D3, D4, D8, D9, D10, D11, D12, D13) • HOPX • MEIS (1, 2) • MEOX2 • MNX1 • MSX (1, 2) • NANOG • NKX (2-1, 2-5, 3-1) • PHF (3, 6, 10, 17) • POU domain (PIT-1, BRN-3: 1, 2, Octamer transcription factor: 1, 2, 3/4, 6, 7) • OTX (1, 2) • PDX1
(3.2) Paired box
PAX (1, 2, 3, 4, 5, 6, 7, 8, 9)
E2F (1, 2, 3, 4, 5) • FOX proteins (C1, C2, E1, G1, H1, K2, L2, M1, N3, O1A, , O3A, O4, P1, P2, P3)
HSF (1, 2, 4)
(3.5) Tryptophan clusters
ELF (4, 5) • EGF • ELK (1, 3, 4) • ERF • ERG • ETS (1, 2) • ETV (1, 4, 5, 6) • FLI1 • Interferon regulatory factors (1, 2, 3, 4, 5, 6, 7, 8) • MYB • MYBL2
(3.6) TEA domain
transcriptional enhancer factor 1, 2
(4) β-Scaffold factors with
minor groove contacts
(4.1) Rel homology region
NF-κB (NFKB1, NFKB2, REL, RELA, RELB) • NFAT (C1, C2, C3, C4, 5)
(4.2) STAT
STAT (1, 2, 3, 4, 5, 6)
(4.3) p53
(4.4) MADS box
Mef2 (A, B, C, D) • SRF
HNF (1A, 1B) • LEF1 • SOX (2, 3, 4, 5, 6, 8, 9, 10, 11, 13, 15, 18) • SRY • SSRP1
(4.10) Cold-shock domain
(4.11) Runt
(0) Other
transcription factors
(0.2) HMGI(Y)
HMGA (1, 2) • HBP1
Rb • RBL1 • RBL2
(0.5) AP-2/EREBP-related factors
Apetala 2 • EREBP • B3
(0.6) Miscellaneous
ARID (1A, 1B, 2, 3A, 3B, 4A) • CAP • IFI (16, 35) • MLL (2, 3, T1) • MNDA • NFI (A, B, C, X) • NFY (A, B, C) • Rho/Sigma • R-SMAD