EPC1 Gene Summary [Human]
This gene encodes a member of the polycomb group (PcG) family. The encoded protein is a component of the NuA4 histone acetyltransferase complex and can act as both a transcriptional activator and repressor. The encoded protein has been linked to apoptosis, DNA repair, skeletal muscle differentiation, gene silencing, and adult T-cell leukemia/lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
Details
| Type | Protein Coding |
| Official Symbol | EPC1 |
| Official Name | enhancer of polycomb homolog 1 [Source:HGNC Symbol;Acc:HGNC:19876] |
| Ensembl ID | ENSG00000120616 |
| Bio databases IDs | |
| Aliases | enhancer of polycomb homolog 1 |
| Synonyms | 2400007E14Rik, 5730566F07Rik, A930032N02Rik, enhancer of polycomb homolog 1, Epl1, mir-1893 |
| 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 EPC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- Enhancer of polycomb-like
- protein binding activity, bridging
- Enhancer of Polycomb C-terminus
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- tumorigenesis
- peripheral T-cell lymphoma
- T-cell non-Hodgkin disease
- mature T-cell neoplasia
- male pattern hair loss
- sexual disorder
- respiratory disorder
- endometrial stromal sarcoma
- endometrial sarcoma cancer
role in cell
- differentiation
- expression in
- binding in
- activation in
- formation
- multinucleation
- development
- cell cycle progression
- condensation
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
- nucleosomes
- nucleoplasm
- nucleoli
- nuclear bodies
- nuclear envelope
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EPC1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of gene expression, epigenetic
- spermatid development
- transcription, DNA-dependent
- double-strand break repair via homologous recombination
- sperm chromatin condensation
- regulation of apoptotic process
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription, DNA-dependent
- regulation of double-strand break repair
- positive regulation of transcription, DNA-dependent
- regulation of cell cycle
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear membrane
- nuclear body
- site of double-strand break
- NuA4 histone acetyltransferase complex
- cytoplasm
- nucleosome
- Piccolo NuA4 histone acetyltransferase complex
- nucleolus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding