ZEB1

SECTIONS

1 - Function
2 - Involvement in disease
3 - Post-translational modifications
4 - Sequence similarities
5 - Tissue specificity
6 - Cellular localization
7 - Alternative names
8 - Database links
9 - Target type
10 - Primary research area
11 - Other research areas
12 - Molecular weight

Function

Acts as a transcriptional repressor. Inhibits interleukin-2 (IL-2) gene expression. Enhances or represses the promoter activity of the ATP1A1 gene depending on the quantity of cDNA and on the cell type. Represses E-cadherin promoter and induces an epithelial-mesenchymal transition (EMT) by recruiting SMARCA4/BRG1. Represses BCL6 transcription in the presence of the corepressor CTBP1. Positively regulates neuronal differentiation. Represses RCOR1 transcription activation during neurogenesis. Represses transcription by binding to the E box (5'-CANNTG-3'). In the absence of TGFB1, acts as a repressor of COL1A2 transcription via binding to the E-box in the upstream enhancer region (By similarity).

Involvement in disease

Corneal dystrophy, posterior polymorphous, 3

PPCD3

A subtype of posterior corneal dystrophy, a disease characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic.

None

The disease is caused by variants affecting the gene represented in this entry.

Corneal dystrophy, Fuchs endothelial, 6

FECD6

A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Ubiquitinated, leading to degradation in a proteasome-dependent manner. Deubiquitinated by USP51, leading to stabilization.

Sequence similarities

Belongs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family.

Tissue specificity

Colocalizes with SMARCA4/BRG1 in E-cadherin-negative cells from established lines, and stroma of normal colon as well as in de-differentiated epithelial cells at the invasion front of colorectal carcinomas (at protein level). Expressed in heart and skeletal muscle, but not in liver, spleen, or pancreas.