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

Gene ID: 80314, updated on 26-May-2016
Official Symbol
EPC1provided by HGNC
Official Full Name
enhancer of polycomb homolog 1provided by HGNC
Primary source
HGNC:HGNC:19876
See related
Ensembl:ENSG00000120616 HPRD:09941; MIM:610999; Vega:OTTHUMG00000017925
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]
Orthologs
Location:
10p11
Exon count:
18
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 10 NC_000010.11 (32267716..32378798, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (32556644..32667726, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene peptidylprolyl isomerase A pseudogene 31 Neighboring gene ribosomal protein S24 pseudogene 13 Neighboring gene uncharacterized LOC102031319 Neighboring gene uncharacterized LOC101929431 Neighboring gene coiled-coil domain containing 7 Neighboring gene C1D nuclear receptor corepressor pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association study of female sexual dysfunction.
NHGRI GWA Catalog
Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
NHGRI GWA Catalog
  • Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
    Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
  • Chromatin organization, organism-specific biosystem (from REACTOME)
    Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
  • HATs acetylate histones, organism-specific biosystem (from REACTOME)
    HATs acetylate histones, organism-specific biosystemHistone acetyltransferases (HATs) involved in histone modifications are referred to as A-type or nuclear HATs. They can be grouped into at least four families based on sequence conservation within th...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp781P2312

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to histone acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
NuA4 histone acetyltransferase complex IDA
Inferred from Direct Assay
more info
PubMed 
Piccolo NuA4 histone acetyltransferase complex IDA
Inferred from Direct Assay
more info
PubMed 
nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
enhancer of polycomb homolog 1

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_001272004.1NP_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, AL445071, AW021213, BC036529, BI029680, BU195035
    Consensus CDS
    CCDS60511.1
    UniProtKB/Swiss-Prot
    Q9H2F5
    Related
    ENSP00000318559, OTTHUMP00000019414, ENST00000319778, OTTHUMT00000047482
    Conserved Domains (2) summary
    pfam06752
    Location:582813
    E_Pc_C; Enhancer of Polycomb C-terminus
    pfam10513
    Location:6148
    EPL1; Enhancer of polycomb-like
  2. NM_001272019.2NP_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)
    AA553969, AF286905, AK092304, AL445071, BC036529, BI029680
    UniProtKB/Swiss-Prot
    Q9H2F5
    Conserved Domains (2) summary
    pfam06752
    Location:511742
    E_Pc_C; Enhancer of Polycomb C-terminus
    pfam10513
    Location:177
    EPL1; Enhancer of polycomb-like
  3. NM_001282391.1NP_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)
    AF286905, AK299676, AL445071, BC036529, BI029680, CB159405, D60263, DB070690
    Consensus CDS
    CCDS73083.1
    UniProtKB/Swiss-Prot
    Q9H2F5
    Related
    ENSP00000364251, OTTHUMP00000019413, ENST00000375110, OTTHUMT00000047481
    Conserved Domains (2) summary
    pfam06752
    Location:532763
    E_Pc_C; Enhancer of Polycomb C-terminus
    pfam10513
    Location:298
    EPL1; Enhancer of polycomb-like
  4. NM_025209.3NP_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) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AF277374, AF286905, AL445071, BI029680, BI461563, BU195035, BX476993
    Consensus CDS
    CCDS7172.1
    UniProtKB/Swiss-Prot
    Q9H2F5
    Related
    ENSP00000263062, OTTHUMP00000019416, ENST00000263062, OTTHUMT00000047484
    Conserved Domains (2) summary
    pfam06752
    Location:582836
    E_Pc_C; Enhancer of Polycomb C-terminus
    pfam10513
    Location:6148
    EPL1; Enhancer of polycomb-like

RNA

  1. NR_104159.1 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
  2. NR_104160.1 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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

    Range
    32267716..32378798 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717510.1XP_006717573.1  

    See identical proteins and their annotated locations for XP_006717573.1

    Conserved Domains (2) summary
    pfam06752
    Location:532786
    E_Pc_C; Enhancer of Polycomb C-terminus
    pfam10513
    Location:298
    EPL1; Enhancer of polycomb-like
  2. XM_011519712.1XP_011518014.1  

    Conserved Domains (1) summary
    pfam10513
    Location:6148
    EPL1; Enhancer of polycomb-like

RNA

  1. XR_428649.2 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 Alternate CHM1_1.1

    Range
    32558317..32669300 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)