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EPC1 enhancer of polycomb homolog 1 [ Homo sapiens (human) ]

Gene ID: 80314, updated on 5-Mar-2024

Summary

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Official Symbol
EPC1provided by HGNC
Official Full Name
enhancer of polycomb homolog 1provided by HGNC
Primary source
HGNC:HGNC:19876
See related
Ensembl:ENSG00000120616 MIM:610999; AllianceGenome:HGNC:19876
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Epl1
Summary
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]
Expression
Ubiquitous expression in bone marrow (RPKM 17.1), ovary (RPKM 10.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
10p11.22
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (32267751..32378769, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (32296867..32407873, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (32556679..32667697, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr10:32485087-32485280 Neighboring gene Sharpr-MPRA regulatory regions 2209 and 5551 Neighboring gene peptidylprolyl isomerase A pseudogene 31 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:32536341-32536558 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:32542436-32542936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2284 Neighboring gene ribosomal protein S24 pseudogene 13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3245 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3246 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2288 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3247 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2286 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:32667292-32667792 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:32667793-32668293 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:32668668-32668769 Neighboring gene EPC1 antisense RNA 1 Neighboring gene RNA, U6 small nuclear 1244, pseudogene Neighboring gene uncharacterized LOC101929431 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3248 Neighboring gene coiled-coil domain containing 7

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Multiomics Integrative Analysis Identifying EPC1 as a Prognostic Biomarker in Head and Neck Squamous Cell Carcinoma. Dai Y, et al. Biomed Res Int, 2022. PMID 36158885, Free PMC Article
  2. RNA interference targeting enhancer of polycomb1 exerts anti-tumor effects in lung cancer. Che C, et al. Int J Clin Exp Pathol, 2015. PMID 25755723, Free PMC Article
  3. Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Biankin AV, et al. Nature, 2012 Nov 15. PMID 23103869, Free PMC Article
  4. Alteration of enhancer of polycomb 1 at 10p11.2 is one of the genetic events leading to development of adult T-cell leukemia/lymphoma. Nakahata S, et al. Genes Chromosomes Cancer, 2009 Sep. PMID 19484761
  5. Mutational analysis of immunoglobulin germline derived Vlambda4B light chains in rheumatoid arthritis. Kenny TP, et al. Clin Immunol, 2001 May. PMID 11318600

See all (68) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Multiomics Integrative Analysis Identifying EPC1 as a Prognostic Biomarker in Head and Neck Squamous Cell Carcinoma.
    Title: Multiomics Integrative Analysis Identifying EPC1 as a Prognostic Biomarker in Head and Neck Squamous Cell Carcinoma.
  2. Structural Basis for EPC1-Mediated Recruitment of MBTD1 into the NuA4/TIP60 Acetyltransferase Complex.
    Title: Structural Basis for EPC1-Mediated Recruitment of MBTD1 into the NuA4/TIP60 Acetyltransferase Complex.
  3. Epigenetic factor EPC1 is a master regulator of DNA damage response by interacting with E2F1 to silence death and activate metastasis-related gene signatures
    Title: Epigenetic factor EPC1 is a master regulator of DNA damage response by interacting with E2F1 to silence death and activate metastasis-related gene signatures.
  4. Silencing EPC1 by short hairpin RNA technology had the inhibition effects on cell proliferation and tumor growth in lung cancer
    Title: RNA interference targeting enhancer of polycomb1 exerts anti-tumor effects in lung cancer.
  5. EPC1 and EPC2 are components of a complex that directly or indirectly serves to prevent MYC accumulation and AML cell apoptosis, thus sustaining oncogenic potential
    Title: Enhancers of Polycomb EPC1 and EPC2 sustain the oncogenic potential of MLL leukemia stem cells.
  6. SNP array CGH analysis of the breakpoint region in 3 ATLL-related cell lines and 4 patient samples revealed the chromosomal breakpoints are localized within the EPC1 gene locus in an ATLL-derived cell line (SO4) and in one patient with acute-type ATLL.
    Title: Alteration of enhancer of polycomb 1 at 10p11.2 is one of the genetic events leading to development of adult T-cell leukemia/lymphoma.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: KIF5B gene sequence variation and response of cardiac stroke volume to regular exercise.
  8. Epc1 plays a role in the initiation of skeletal muscle differentiation, and its interaction with Hop is required for the full activity.
    Title: Enhancer of polycomb1, a novel homeodomain only protein-binding partner, induces skeletal muscle differentiation.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of female sexual dysfunction.
EBI GWAS Catalog
Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp781P2312

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chromatin-protein adaptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables enzyme-substrate adaptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA-templated transcription TAS
Traceable Author Statement
more info
 PubMed 
involved_in double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within negative regulation of gene expression, epigenetic IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of DNA-templated transcription NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of DNA-templated transcription TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of apoptotic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of cell cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of double-strand break repair NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sperm DNA condensation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in spermatid development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of NuA4 histone acetyltransferase complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear body IDA
Inferred from Direct Assay
more info
  
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
part_of nucleosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 
part_of piccolo histone acetyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of piccolo histone acetyltransferase complex IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in site of double-strand break IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
enhancer of polycomb homolog 1

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001272004.3 → NP_001258933.1  enhancer of polycomb homolog 1 isoform b

    See identical proteins and their annotated locations for NP_001258933.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region compared to variant 1. The encoded isoform (b) is shorter than isoform a.
    Source sequence(s)
    AF286905, AK309822, AL391839, AW021213, BC036529, BU195035
    Consensus CDS
    CCDS60511.1
    UniProtKB/Swiss-Prot
    Q9H2F5
    Related
    ENSP00000318559.6, ENST00000319778.11
    Conserved Domains (2) summary
    pfam06752
    Location:582 → 813
    E_Pc_C; Enhancer of Polycomb C-terminus
    pfam10513
    Location:7 → 148
    EPL1; Enhancer of polycomb-like

  2. NM_001272019.4 → NP_001258948.1  enhancer of polycomb homolog 1 isoform c

    See identical proteins and their annotated locations for NP_001258948.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses two alternate splice sites in the 5' UTR, uses a downstream start codon, and lacks an in-frame exon in the coding region compared to variant 1. It encodes isoform c which has a shorter N-terminus compared to isoform a.
    Source sequence(s)
    AL158834, AL391839, AL445071
    UniProtKB/Swiss-Prot
    Q9H2F5
    Conserved Domains (2) summary
    pfam06752
    Location:511 → 742
    E_Pc_C; Enhancer of Polycomb C-terminus
    pfam10513
    Location:3 → 77
    EPL1; Enhancer of polycomb-like

  3. NM_001282391.3 → NP_001269320.1  enhancer of polycomb homolog 1 isoform d

    See identical proteins and their annotated locations for NP_001269320.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents use of an alternate promoter, and thus differs in the 5' UTR and 5' coding region, and lacks an alternate, in-frame exon in the coding region compared to variant 1. These differences cause translation initiation at an alternate AUG, and the resulting isoform (d) has a distinct N-terminus and is shorter compared to isoform a.
    Source sequence(s)
    AL158834, AL391839, AL445071
    Consensus CDS
    CCDS73083.1
    UniProtKB/Swiss-Prot
    Q9H2F5
    Related
    ENSP00000364251.2, ENST00000375110.6
    Conserved Domains (1) summary
    pfam06752
    Location:532 → 763
    E_Pc_C; Enhancer of Polycomb C-terminus

  4. NM_001382753.1 → NP_001369682.1  enhancer of polycomb homolog 1 isoform e

    Status: REVIEWED

    Source sequence(s)
    AL158834, AL391839, AL445071
    Conserved Domains (2) summary
    pfam06752
    Location:582 → 812
    E_Pc_C; Enhancer of Polycomb C-terminus
    pfam10513
    Location:7 → 148
    EPL1; Enhancer of polycomb-like

  5. NM_001382754.1 → NP_001369683.1  enhancer of polycomb homolog 1 isoform f

    Status: REVIEWED

    Source sequence(s)
    AL158834, AL391839, AL445071
    Conserved Domains (1) summary
    pfam06752
    Location:532 → 786
    E_Pc_C; Enhancer of Polycomb C-terminus

  6. NM_001382755.1 → NP_001369684.1  enhancer of polycomb homolog 1 isoform g

    Status: REVIEWED

    Source sequence(s)
    AL158834, AL391839, AL445071
    Conserved Domains (2) summary
    pfam06752
    Location:516 → 746
    E_Pc_C; Enhancer of Polycomb C-terminus
    pfam10513
    Location:7 → 148
    EPL1; Enhancer of polycomb-like

  7. NM_001382756.1 → NP_001369685.1  enhancer of polycomb homolog 1 isoform h

    Status: REVIEWED

    Source sequence(s)
    AL158834, AL391839
    UniProtKB/TrEMBL
    A0A590UJN0
    Conserved Domains (1) summary
    pfam10513
    Location:7 → 148
    EPL1; Enhancer of polycomb-like

  8. NM_025209.5 → NP_079485.1  enhancer of polycomb homolog 1 isoform a

    See identical proteins and their annotated locations for NP_079485.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AL158834, AL391839, AL445071
    Consensus CDS
    CCDS7172.1
    UniProtKB/Swiss-Prot
    B4DSC3, D3DRX7, Q5VW54, Q5VW56, Q5VW58, Q8NAQ4, Q8NE21, Q96LF4, Q96RR6, Q9H2F5, Q9H7T7
    Related
    ENSP00000263062.8, ENST00000263062.8
    Conserved Domains (2) summary
    pfam06752
    Location:582 → 836
    E_Pc_C; Enhancer of Polycomb C-terminus
    cl26518
    Location:7 → 148
    EPL1; Enhancer of polycomb-like

RNA

  1. NR_104159.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
    Source sequence(s)
    BG719217, BI461563, BM717660, DA333251
    Related
    ENST00000469059.2

  2. NR_104160.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
    Source sequence(s)
    BI461563, BQ007483, DA333251, DB447845
    Related
    ENST00000480402.1

  3. NR_168506.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL391839

  4. NR_168507.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL391839

  5. NR_168508.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL158834, AL391839, AL445071

  6. NR_168509.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL158834, AL391839

  7. NR_168510.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL158834, AL391839, AL445071
    Related
    ENST00000667706.1

  8. NR_168511.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL158834, AL391839, AL445071

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    32267751..32378769 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001747214.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    32296867..32407873 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_008488272.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H2F5.1 GenPept UniProtKB/Swiss-Prot:Q9H2F5

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Other Literature Sources
Chemical Information
Molecular Biology Databases
Research Materials
Tools
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