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

    Gene ID: 80314, updated on 2-Nov-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
    mouse all
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    Genomic context

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    See EPC1 in Genome Data Viewer
    Location:
    10p11.22
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (32267751..32378769, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (32296867..32407873, complement)
    RS_2024_09 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 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. Clonal expansion and decreased occurrence of peripheral blood gamma delta T cells of the V delta 2J delta 3 lineage in multiple sclerosis patients. Liedtke W, et al. Int Immunol, 1997 Jul. PMID 9237112
    2. 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
    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 (73) 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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    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_2024_08

    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.

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