CEBPE Gene Summary [Human]
The protein encoded by this gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with Specific Granule Deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | CEBPE |
| Official Name | CCAAT enhancer binding protein epsilon [Source:HGNC Symbol;Acc:HGNC:1836] |
| Ensembl ID | ENSG00000092067 |
| Bio databases IDs | |
| Aliases | CCAAT enhancer binding protein epsilon |
| Synonyms | CCAAT enhancer binding protein epsilon, CCAAT/enhancer binding protein epsilon, CCAAT enhancer binding protein ε, CCAAT/enhancer binding protein ε, C/EBPe, C/EBP-epsilon, C/EBP-ε, C/EPBe, CRP1, Gm294, IMD108, SGD1 |
| 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 CEBPE often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- activation domain
- transcription regulator
- nucleic acid binding
- Basic region leucine zipper
- protein binding
- sequence-specific DNA binding
- identical protein binding
- threonine phosphorylation site
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription repression domain
- binding protein
- double-stranded DNA binding
- bZIP
- basic region leucin zipper
Pathways
Biological processes and signaling networks where the CEBPE 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
- colitis
- precursor B-cell acute lymphoblastic leukemia
- specific granule deficiency 1
- acute lymphoblastic leukemia
- rhinitis
- immunodeficiency 108 with autoinflammation
- conjunctivitis
- osteomyelitis
- pleurisy
- specific granule deficiency
role in cell
- expression in
- killing
- migration
- maturation
- differentiation
- apoptosis
- proliferation
- growth
- transactivation in
- survival
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
- Plasma Membrane
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CEBPE gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular response to lipopolysaccharide
- transcription, DNA-dependent
- positive regulation of gene expression
- myeloid cell differentiation
- phagocytosis
- granulocyte differentiation
- positive regulation of transcription from RNA polymerase II promoter
- defense response
- macrophage differentiation
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity