ZEB1

This gene encodes a zinc finger transcription factor. The encoded protein likely plays a role in transcriptional repression of interleukin 2. Mutations in this gene have been associated with posterior polymorphous corneal dystrophy-3 and late-onset Fuchs endothelial corneal dystrophy. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2010]

Zinc Finger E-Box Binding Homeobox 1

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'). Promotes tumorigenicity by repressing stemness-inhibiting microRNAs.

Biological Process anatomical structure development Source:GO_Central1 Publication
Biological Process cartilage development Source:Ensembl
Biological Process cell differentiation Source:UniProtKB-KW
Biological Process cellular response to amino acid stimulus Source:Ensembl
Biological Process cellular response to transforming growth factor beta stimulus Source:Ensembl
Biological Process cochlea morphogenesis Source:Ensembl
Biological Process embryonic camera-type eye morphogenesis Source:Ensembl
Biological Process embryonic skeletal system morphogenesis Source:Ensembl
Biological Process forebrain development Source:Ensembl
Biological Process keratinocyte proliferation Source:Ensembl
Biological Process negative regulation of DNA-templated transcription Source:UniProtKB1 Publication
Biological Process negative regulation of endothelial cell differentiation Source:BHF-UCL1 Publication
Biological Process negative regulation of keratinocyte proliferation Source:Ensembl
Biological Process negative regulation of transcription by RNA polymerase II Source:BHF-UCL2 Publications
Biological Process pattern specification process Source:Ensembl
Biological Process positive regulation of neuron differentiation Source:UniProtKB
Biological Process positive regulation of transcription by RNA polymerase II Source:Ensembl
Biological Process regulation of mesenchymal cell proliferation Source:Ensembl
Biological Process regulation of smooth muscle cell differentiation Source:Ensembl
Biological Process regulation of T cell differentiation in thymus Source:Ensembl
Biological Process regulation of transcription by RNA polymerase II Source:GO_Central1 Publication
Biological Process regulation of transforming growth factor beta receptor signaling pathway Source:Ensembl
Biological Process response to activity Source:Ensembl
Biological Process response to nutrient levels Source:Ensembl
Biological Process semicircular canal morphogenesis Source:Ensembl

Nucleus

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.
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.