Foxc1 17300

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Gene ID: 17300
Gene symbol: foxc1
Gene Description: forkhead box c1
Aliases: ch; fkh-1; Fkh1; FREAC3; frkhda; Mf1; Mf4
Human Ortholog Gene ID: [2296]
Reviewer Judgement: TF Gene
Functional Classification: DNA-Binding: sequence-specific
DBD Protein Group Classification: Winged Helix-Turn-Helix
DBD Protein Group/Family Classification: Winged Helix-Turn-Helix / Forkhead Domain Family
Homolog Cluster(s): 108655

Evidence:

Pubmed ID Function Species Evidence Strength Reviewer's Comments Reviewer
[11179011] DNA Binding Other Medium Saleem et al. (2001) investigated 5 missense mutations of the FOXC1 transcription factor found in patients with Axenfeld-Rieger malformations to determine their effects on FOXC1 structure and function. Molecular modeling of the FOXC1 forkhead domain predicted that the missense mutations did not alter FOXC1 structure. Biochemical analyses indicated that whereas all mutant proteins correctly localized to the cell nucleus, the I87M (601090.0009) mutation reduced FOXC1 protein levels. DNA-binding experiments revealed that although the S82T (601090.0008) and S131L (601090.0002) mutations decreased DNA binding, the F112S (601090.0004) and I126M (601090.0003) mutations did not. However, the F112S and I126M mutations decreased the transactivation ability of FOXC1. All the FOXC1 mutations had the net effect of reducing FOXC1 transactivation ability. These results indicated that the FOXC1 forkhead domain contains separable DNA-binding and transactivation functions. In addition, these findings demonstrated that reduced stability, DNA binding, or transactivation, all causing a decrease in the ability of FOXC1 to transactivate genes, can underlie Axenfeld-Rieger malformations. Saleem et al. (2003) studied an additional 5 missense mutations in the FOXC1 gene. Biologic analyses indicated that all missense mutations studied caused various FOXC1 perturbations, including nuclear localization defects, reduced or abolished DNA binding capacity, and a reduction in the transactivation capacity of FOXC1. 30 PubMed Neighbors Jared Roach
[17000708] DNA Binding; Transactivation Human Not Selected human retinal cell culture and fish studies indicate direct regulation of FGF19 by Foxc1. Jared Roach
[12533514] DNA Binding; Transactivation Mouse Strong Foxc1 binds to the Fox cis-element in the Tbx1 enhancer (EMSA).

Luciferase expression under control of the Tbx1 genomic DNA fragment is upregulated with the coexpression of Foxc1 in Hela and COS cells.

Elodie Portales-Casamar
[15684392] DNA Binding; Transactivation Human Strong FoxC1 binds to a consensus FOX binding site (FOXBS) in EMSA experiments.

FoxC1 upregulate the transcription of a 6XFOXBS-Luc reporter construct in M2 cells.

Elodie Portales-Casamar
Additional Reviewer Comments:
Reviewer: Jared Roach

OMIM: "Saleem et al. (2001) investigated 5 missense mutations of the FOXC1 transcription factor found in patients with Axenfeld-Rieger malformations to determine their effects on FOXC1 structure and function. ... DNA-binding experiments revealed that although the S82T and S131L mutations decreased DNA binding, the F112S and I126M mutations did not. However, the F112S and I126M mutations decreased the transactivation ability of FOXC1. All the FOXC1 mutations had the net effect of reducing FOXC1 transactivation ability. These results indicated that the FOXC1 forkhead domain contains separable DNA-binding and transactivation functions."

Reviewer: Elodie Portales-Casamar

FOXC1 binds to the FOX binding site and is capable of transactivation.


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Facts about Foxc1 17300RDF feed
Gene description forkhead box c1  +
Gene id 17,300  +
Gene judgment TF Gene  +
Gene symbol foxc1  +, ch  +, fkh-1  +, Fkh1  +, FREAC3  +, frkhda  +, Mf1  +, and Mf4  +
Gene taxonomy DNA-Binding: sequence-specific  +
Homolog cluster 108,655  +
Protein family 1.2 Winged Helix-Turn-Helix/102 Forkhead Domain Family  +
Protein group 1.2 Winged Helix-Turn-Helix   +
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