ZEB1

Description

The ZEB1 (zinc finger E-box binding homeobox 1) is a protein-coding gene located on chromosome 10.

ZEB1 (also known as TCF8) is a protein encoded by the ZEB1 gene in humans. It is a zinc finger and homeodomain transcription factor that represses T-lymphocyte-specific IL2 gene expression by binding to a negative regulatory domain 100 nucleotides 5-prime of the IL2 transcription start site. ZEB1 belongs to the Zeb family within the ZF (zinc finger) class of homeodomain transcription factors. It contains seven zinc fingers and one homeodomain. Mutations in the ZEB1 gene are linked to posterior polymorphous corneal dystrophy 3. ZEB1 downregulates E-cadherin and induces epithelial to mesenchymal transition in breast and other carcinomas. It has been implicated in lung cancer invasiveness and metastasis development. Overexpression of ZEB1 is a potential risk factor for recurrence and poor prognosis in several types of cancers.

ZEB1 acts as a transcriptional repressor. It inhibits interleukin-2 (IL-2) gene expression and regulates the promoter activity of the ATP1A1 gene depending on the quantity of cDNA and cell type. ZEB1 represses the E-cadherin promoter and induces an epithelial-mesenchymal transition (EMT) by recruiting SMARCA4/BRG1. In the presence of the corepressor CTBP1, it represses BCL6 transcription. ZEB1 positively regulates neuronal differentiation and represses RCOR1 transcription activation during neurogenesis. It represses transcription by binding to the E box (5‘-CANNTG-3‘). In the absence of TGFB1, ZEB1 acts as a repressor of COL1A2 transcription by binding to the E-box in the upstream enhancer region.

ZEB1 is also known as AREB6, BZP, DELTAEF1, FECD6, NIL2A, PPCD3, TCF8, ZFHEP, ZFHX1A.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing