EPC1 (Enhancer of Polycomb Homolog 1)
A chromatin regulator involved in transcriptional repression and cancer
Gene Information Card
| Symbol | EPC1 |
|---|---|
| Full Name | Enhancer of Polycomb Homolog 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p11.22 |
| NCBI Gene ID | 80314 ncbi.nlm.nih.gov/gene/80314 |
| Ensembl ID | ENSG00000120616 |
| UniProt ID | Q9H2F5 |
| OMIM ID | 610999 |
| HGNC ID | 19876 |
| Aliases | EPC1, Enhancer of polycomb homolog 1, EPL1 |
Description
EPC1 (Enhancer of Polycomb Homolog 1) encodes a component of the NuA4 histone acetyltransferase complex, which acetylates histones H4 and H2A, and is involved in transcriptional activation and repression. It also interacts with polycomb group proteins to maintain gene silencing. EPC1 is implicated in chromatin remodeling, cell cycle regulation, and DNA repair. Mutations and altered expression of EPC1 are associated with various cancers, including breast, prostate, and hematologic malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | EPC1 overexpression or mutation disrupts NuA4 complex function, altering histone acetylation and gene expression patterns that promote oncogenesis. | PMID: 23455423; COSMIC |
| Prostate cancer | EPC1 amplification or gain-of-function mutations enhance androgen receptor signaling and tumor growth. | PMID: 25691885; COSMIC |
| Acute myeloid leukemia (AML) | EPC1 fusion proteins (e.g., EPC1-PHF1) impair polycomb-mediated repression, leading to aberrant gene activation. | PMID: 28218250; ClinVar |
| Colorectal cancer | EPC1 loss-of-function mutations reduce NuA4 activity, contributing to genomic instability. | PMID: 26619011; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Bone marrow | 10.8 | Medium |
| Lymph node | 9.5 | Medium |
| Brain | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.5 | Embryonic kidney; high expression |
| HeLa | 11.0 | Cervical carcinoma; moderate expression |
| K562 | 9.8 | Leukemia; moderate expression |
| MCF7 | 8.2 | Breast cancer; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <1% | Loss of function; truncation of EPC1 protein |
| c.789_790insA (p.Glu264fs) | Frameshift | <1% | Loss of function; premature stop codon |
| c.1567G>A (p.Glu523Lys) | Missense | <1% | Gain of function; altered histone acetylation activity |
| EPC1-PHF1 fusion | Structural variant | <1% | Oncogenic fusion; disrupts polycomb repression |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg412*, p.Glu264fs) lead to truncated or non-functional EPC1 protein, impairing NuA4 complex assembly and histone acetylation.
Gain of Function (GOF)
Missense mutations (e.g., p.Glu523Lys) enhance EPC1 activity, increasing histone acetylation and promoting oncogenic gene expression.
Dominant Negative (DN)
EPC1-PHF1 fusion protein may act as a dominant-negative inhibitor of polycomb repressive complexes, leading to de-repression of target genes.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NuA4 histone acetyltransferase complex
• Chromatin remodeling
• Transcriptional regulation by polycomb group proteins
• DNA repair
Protein Summary
EPC1 is a 833-amino acid protein that serves as a scaffold within the NuA4 histone acetyltransferase complex. It contains an EPc domain and a Tudor-like domain, mediating interactions with other chromatin modifiers. EPC1 facilitates the acetylation of histone H4 and H2A, promoting open chromatin for transcription, but also participates in polycomb-mediated repression. Its dysregulation is linked to multiple cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPC1 Knockout HEK293 Cell Line | EDJ-KQ9529 | Human | 80314 | Details Get a Quote |
| EPC1 Knockout A-549 Cell Line | EDJ-KQ36301 | Human | 80314 | Details Get a Quote |
| EPC1 Knockout HCT 116 Cell Line | EDJ-KQ36302 | Human | 80314 | Details Get a Quote |
| EPC1 Knockout HeLa Cell Line | EDJ-KQ36303 | Human | 80314 | Details Get a Quote |
