Human Gene ZEB1 (ENST00000560721.6) from GENCODE V44
Description: Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 38, mRNA. (from RefSeq NM_001323675) RefSeq Summary (NM_001174093): 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]. Gencode Transcript: ENST00000560721.6 Gencode Gene: ENSG00000148516.23 Transcript (Including UTRs) Position: hg38 chr10:31,319,212-31,527,294 Size: 208,083 Total Exon Count: 8 Strand: + Coding Region Position: hg38 chr10:31,319,235-31,527,264 Size: 208,030 Coding Exon Count: 8
ID:ZEB1_HUMAN DESCRIPTION: RecName: Full=Zinc finger E-box-binding homeobox 1; AltName: Full=NIL-2-A zinc finger protein; AltName: Full=Negative regulator of IL2; AltName: Full=Transcription factor 8; Short=TCF-8; 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'). Promotes tumorigenicity by repressing stemness-inhibiting microRNAs. SUBUNIT: Interacts (via N-terminus) with SMARCA4/BRG1. SUBCELLULAR LOCATION: Nucleus. 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. DISEASE: Defects in ZEB1 are the cause of posterior polymorphous corneal dystrophy type 3 (PPCD3) [MIM:609141]. PPCD is a rare disease involving metaplasia and overgrowth of corneal endothelial cells. In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an aberrant basement membrane, and, sometimes, spread over the iris and nearby structures in a way that increases the risk for glaucoma. DISEASE: Defects in ZEB1 are the cause of corneal dystrophy Fuchs endothelial type 6 (FECD6) [MIM:613270]. It is an ocular disorder 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. SIMILARITY: Belongs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family. SIMILARITY: Contains 7 C2H2-type zinc fingers. SIMILARITY: Contains 1 homeobox DNA-binding domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P37275
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Microarray Expression Data 
