ZEB1 Gene: Zinc Finger E-Box Binding Homeobox 1
Transcriptional regulator in epithelial-mesenchymal transition and cancer metastasis
Gene Information Card
| Symbol | ZEB1 |
|---|---|
| Full Name | zinc finger E-box binding homeobox 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10p11.22 |
| NCBI Gene ID | 6935 ncbi.nlm.nih.gov/gene/6935 |
| Ensembl ID | ENSG00000148516 |
| UniProt ID | P37275 |
| OMIM ID | 189909 |
| HGNC ID | 11642 |
| Aliases | AREB6, BZP, NIL-2A, ZEB, Zfhep, TCF8, ZFHX1A, Zfx1a, Zfhx1a, Zfhep1, Zfhx1a, ZEB-1 |
Description
ZEB1 encodes a zinc finger transcription factor that represses E-cadherin expression and promotes epithelial-mesenchymal transition (EMT). It plays a critical role in embryonic development, cell differentiation, and cancer metastasis. ZEB1 binds E-box sequences and interacts with co-repressors such as CtBP to regulate target gene expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Corneal dystrophy, posterior polymorphous 3 | ZEB1 loss-of-function mutations disrupt corneal endothelial cell differentiation | OMIM #609141 |
| Colorectal cancer | ZEB1 overexpression promotes EMT and metastasis via E-cadherin repression | PMID: 17377530 |
| Breast cancer | ZEB1 drives invasion and metastasis through EMT induction | PMID: 19029980 |
| Pancreatic cancer | ZEB1 expression correlates with poor prognosis and EMT | PMID: 19584269 |
| Lung cancer | ZEB1 promotes metastasis and resistance to therapy | PMID: 19847166 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 12.3 | Medium |
| Lung | 8.7 | Medium |
| Kidney | 6.5 | Low |
| Breast | 5.2 | Low |
| Colon | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 3.2 | Low expression; EMT induction increases ZEB1 |
| A549 (lung cancer) | 8.1 | Moderate expression |
| PANC-1 (pancreatic cancer) | 15.4 | High expression; mesenchymal phenotype |
| HCT116 (colorectal cancer) | 6.7 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.208C>T (p.Arg70*) | Nonsense | Rare | Loss of function; associated with posterior polymorphous corneal dystrophy |
| c.1A>G (p.Met1?) | Missense | Rare | Loss of function; start codon loss |
| c.2530C>T (p.Arg844Trp) | Missense | Rare | Unknown significance; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in ZEB1 cause haploinsufficiency, leading to posterior polymorphous corneal dystrophy 3.
Gain of Function (GOF)
Not well documented; overexpression in cancer is typically due to transcriptional upregulation rather than activating mutations.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in ZEB1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0000978 ~ RNA polymerase II cis-regulatory region sequence-specific DNA binding | • GO:0001227 ~ DNA-binding transcription repressor activity |
| • RNA polymerase II-specific | • GO:0005634 ~ nucleus |
| • GO:0006357 ~ regulation of transcription by RNA polymerase II | • GO:0010629 ~ negative regulation of gene expression |
| • GO:0010718 ~ positive regulation of epithelial to mesenchymal transition | • GO:0045892 ~ negative regulation of transcription |
| • DNA-templated |
Pathways
• Epithelial-to-mesenchymal transition (EMT) pathway
• TGF-beta signaling pathway
• Wnt signaling pathway
• p53 signaling pathway
Protein Summary
ZEB1 is a 1,124-amino acid transcription factor containing two zinc finger clusters and a homeodomain. It represses E-cadherin (CDH1) and other epithelial genes, promoting EMT. ZEB1 interacts with co-repressors such as CtBP and BRG1, and is regulated by microRNAs including miR-200 family. Its expression is associated with cancer progression, metastasis, and poor prognosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZEB1 Knockout HEK293 Cell Line | EDC07602 | Human | 6935 | Details Get a Quote |
| ZEB1 Knockout A-549 Cell Line | EDJ-KQ22777 | Human | 6935 | Details Get a Quote |
| ZEB1 Knockout HCT 116 Cell Line | EDJ-KQ22778 | Human | 6935 | Details Get a Quote |
| ZEB1 Knockout HeLa Cell Line | EDJ-KQ22779 | Human | 6935 | Details Get a Quote |
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