Forkhead box protein C1

Definition:

DNA-binding transcriptional factor that plays a role in a broad range of cellular and developmental processes such as eye, bones, cardiovascular, kidney and skin development. Acts either as a transcriptional activator or repressor. Binds to the consensus binding site 5'-[G/C][A/T]AAA[T/C]AA[A/C]-3' in promoter of target genes. Upon DNA-binding, promotes DNA bending. Acts as a transcriptional coactivator. Stimulates Indian hedgehog (Ihh)-induced target gene expression mediated by the transcription factor GLI2, and hence regulates endochondral ossification (By similarity). Acts also as a transcriptional coregulator by increasing DNA-binding capacity of GLI2 in breast cancer cells. Regulates FOXO1 through binding to a conserved element, 5'-GTAAACAAA-3' in its promoter region, implicating FOXC1 as an important regulator of cell viability and resistance to oxidative stress in the eye. Cooperates with transcription factor FOXC2 in regulating expression of genes that maintain podocyte integrity (By similarity). Promotes cell growth inhibition by stopping the cell cycle in the G1 phase through TGFB1-mediated signals. Involved in epithelial-mesenchymal transition (EMT) induction by increasing cell proliferation, migration and invasion. Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression (By similarity). Plays a role in the gene regulatory network essential for epidermal keratinocyte terminal differentiation. Essential developmental transcriptional factor required for mesoderm-derived tissues, such as the somites, skin, bone and cartilage. Positively regulates CXCL12 and stem cell factor expression in bone marrow mesenchymal progenitor cells, and hence plays a role in the development and maintenance of mesenchymal niches for haematopoietic stem and progenitor cells (HSPC). Plays a role in corneal transparency by preventing both blood vessel and lymphatic vessel growth during embryonic development in a VEGF-dependent manner. Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression (By similarity). May function as a tumor suppressor.

References:

[1]. Yoko A Ito, et al. Analyses of a novel L130F missense mutation in FOXC1. Arch Ophthalmol. 2007 Jan;125(1):128-35. [Content Brief]

[2]. Lianghua Bin, et al. Forkhead Box C1 Regulates Human Primary Keratinocyte Terminal Differentiation. PLoS One. 2016 Dec 1;11(12):e0167392. [Content Brief]

[3]. Bingchen Han, et al. FOXC1 Activates Smoothened-Independent Hedgehog Signaling in Basal-like Breast Cancer. Cell Rep. 2015 Nov 3;13(5):1046-58. [Content Brief]

[4]. Yoko A Ito, et al. Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia. Invest Ophthalmol Vis Sci. 2009 Aug;50(8):3573-9. [Content Brief]

[5]. R A Saleem, et al. Essential structural and functional determinants within the forkhead domain of FOXC1. Nucleic Acids Res. 2004 Aug 6;32(14):4182-93. [Content Brief]

[6]. Fred B Berry, et al. FOXC1 transcriptional regulatory activity is impaired by PBX1 in a filamin A-mediated manner. Mol Cell Biol. 2005 Feb;25(4):1415-24. [Content Brief]

[7]. Ramsey A Saleem, et al. Identification and analysis of a novel mutation in the FOXC1 forkhead domain. Invest Ophthalmol Vis Sci. 2003 Nov;44(11):4608-12. [Content Brief]

[8]. S Pierrou, et al. Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending. EMBO J. 1994 Oct 17;13(20):5002-12. [Content Brief]

[9]. Partha S Ray, et al. FOXC1 is a potential prognostic biomarker with functional significance in basal-like breast cancer. Cancer Res. 2010 May 15;70(10):3870-6. [Content Brief]

[10]. Yong Zhou, et al. Identification of FOXC1 as a TGF-beta1 responsive gene and its involvement in negative regulation of cell growth. Genomics. 2002 Nov;80(5):465-72. [Content Brief]

[11]. C D Fetterman, et al. Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis. Clin Genet. 2009 Sep;76(3):296-9. [Content Brief]

[12]. Hiroyuki Yamagishi, et al. Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer. Genes Dev. 2003 Jan 15;17(2):269-81. [Content Brief]

[13]. Cristina Medina-Trillo, et al. Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability. PLoS One. 2015 Mar 18;10(3):e0119272. [Content Brief]

[14]. Ramsey A Saleem, et al. Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1. Hum Mol Genet. 2003 Nov 15;12(22):2993-3005. [Content Brief]

[15]. Zhi-Yuan Xu, et al. FOXC1 contributes to microvascular invasion in primary hepatocellular carcinoma via regulating epithelial-mesenchymal transition. Int J Biol Sci. 2012;8(8):1130-41. [Content Brief]

[16]. Tara C Murphy, et al. The wing 2 region of the FOXC1 forkhead domain is necessary for normal DNA-binding and transactivation functions. Invest Ophthalmol Vis Sci. 2004 Aug;45(8):2531-8. [Content Brief]

[17]. Fred B Berry, et al. FOXC1 is required for cell viability and resistance to oxidative stress in the eye through the transcriptional regulation of FOXO1A. Hum Mol Genet. 2008 Feb 15;17(4):490-505. [Content Brief]

[18]. Morteza Seifi, et al. Comparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger Syndrome. Hum Mutat. 2017 Feb;38(2):169-179. [Content Brief]

[19]. Fred B Berry, et al. FOXC1 transcriptional regulation is mediated by N- and C-terminal activation domains and contains a phosphorylated transcriptional inhibitory domain. J Biol Chem. 2002 Mar 22;277(12):10292-7. [Content Brief]

[20]. Fred B Berry, et al. Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis. Hum Mol Genet. 2006 Mar 15;15(6):905-19. [Content Brief]

[21]. Fred B Berry, et al. Regulation of FOXC1 stability and transcriptional activity by an epidermal growth factor-activated mitogen-activated protein kinase signaling cascade. J Biol Chem. 2006 Apr 14;281(15):10098-104. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.