ZEB1 Gene Summary [Human]
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]
Details
| Type | Retained Intron |
| Official Symbol | ZEB1 |
| Official Name | zinc finger E-box binding homeobox 1 [Source:HGNC Symbol;Acc:HGNC:11642] |
| Ensembl ID | ENSG00000148516 |
| Bio databases IDs | |
| Aliases | zinc finger E-box binding homeobox 1 |
| Synonyms | 3110032K11Rik, AREB6, BZP, DELTAEF1, [delta]EF1, FECD6, LOC100996668, MEB1, Nil2, NIL2A, PPCD3, Tcf18, TCF-8, TCP8, TF8, TRANSCRIPTION FACTOR 8, Tw, ZEB, ZFHEP, Zfhep2, ZFHX1A, Zfx1a, Zfx1ha, zinc finger E-box binding homeobox 1, [δ]EF1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ZEB1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Zinc finger, C2H2 type
- transcription regulator
- DNA binding domain
- nucleic acid binding
- chromatin binding
- protein binding
- sequence-specific DNA binding
- C2H2-type zinc finger
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- zinc finger
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- transcription repression domain
- zinc ion binding
- double-stranded DNA binding
- Zinc-finger double domain
- zinc finger domain
- homeodomain
- transcription factor activity
Pathways
Biological processes and signaling networks where the ZEB1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- bleeding
- neoplasia
- lymphomagenesis
- hematologic cancer
- lymphoid cancer
- hematological neoplasia
- lymphatic neoplasia
- breast cancer
- androgenic alopecia
role in cell
- quantity
- number
- formation
- formation in
- apoptosis
- survival
- expression in
- phosphorylation in
- glycolysis in
- binding in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Cytoplasm
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ZEB1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- anatomical structure development
- regulation of smooth muscle cell differentiation
- positive regulation of neuron differentiation
- regulation of T cell differentiation in thymus
- positive regulation of transcription from RNA polymerase II promoter
- negative regulation of endothelial cell differentiation
- negative regulation of transcription from RNA polymerase II promoter
- negative regulation of keratinocyte proliferation
- cellular response to amino acid stimulus
- forebrain development
- negative regulation of transcription, DNA-dependent
- keratinocyte proliferation
- cochlea morphogenesis
- pattern specification process
- embryonic skeletal system morphogenesis
- regulation of transcription from RNA polymerase II promoter
- cellular response to transforming growth factor beta stimulus
- semicircular canal morphogenesis
- embryonic camera-type eye morphogenesis
- cell differentiation
- response to activity
- regulation of transforming growth factor beta receptor signaling pathway
- regulation of mesenchymal cell proliferation
- response to nutrient levels
- cartilage development
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytosol
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- chromatin binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- E-box binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity