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Aliases for EPC1 Gene

Aliases for EPC1 Gene

  • Enhancer Of Polycomb Homolog 1 2 3 3 5
  • Enhancer Of Polycomb Homolog 1 (Drosophila) 2
  • Epl1 3

External Ids for EPC1 Gene

Previous GeneCards Identifiers for EPC1 Gene

  • GC10M032706
  • GC10M032560
  • GC10M032561
  • GC10M032596
  • GC10M032559

Summaries for EPC1 Gene

Entrez Gene Summary for EPC1 Gene

  • 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]

GeneCards Summary for EPC1 Gene

EPC1 (Enhancer Of Polycomb Homolog 1) is a Protein Coding gene. Diseases associated with EPC1 include Adult T-Cell Leukemia. Among its related pathways are Chromatin organization. Gene Ontology (GO) annotations related to this gene include histone acetyltransferase activity. An important paralog of this gene is EPC2.

UniProtKB/Swiss-Prot for EPC1 Gene

  • Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when directly recruited to sites of DNA damage.

Gene Wiki entry for EPC1 Gene

Additional gene information for EPC1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPC1 Gene

Genomics for EPC1 Gene

GeneHancer (GH) Regulatory Elements for EPC1 Gene

Promoters and enhancers for EPC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J032376 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 669.1 +0.5 498 4.6 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A YBX1 FEZF1 ZNF2 YY1 EPC1 ENSG00000226842 AK3P5 CCDC7 LOC105376486 GC10P032352
GH10J032344 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 673.2 +32.1 32058 3.9 ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF143 SP3 ZNF610 GLIS1 EPC1 ENSG00000233825 LOC102031319 ENSG00000226842 AK3P5 CCDC7
GH10J032947 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 28.3 -576.8 -576759 17.1 ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 SP3 ZNF610 ITGB1 KIF5B EPC1 LOC105376486 AK3P5 ENSG00000226842 CCDC7 ITGB1-DT
GH10J032978 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE dbSUPER 24.5 -604.2 -604201 8 CLOCK MLX ZFP64 DMAP1 YY1 SP3 NFYC ZC3H11A MEF2D SSRP1 EPC1 AK3P5 ENSG00000226842 CCDC7 LOC105376486 ITGB1 ITGB1-DT
GH10J032445 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 22.4 -67.8 -67814 3.1 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ZNF213 CCDC7 LOC101929431 EPC1 LOC105376486 ENSG00000226842 RPS4XP11 AK3P5 ITGB1 GC10M032511
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EPC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EPC1 gene promoter:
  • E2F-1
  • p53
  • E2F
  • Zic3
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • N-Myc

Genomic Locations for EPC1 Gene

Genomic Locations for EPC1 Gene
chr10:32,267,716-32,378,798
(GRCh38/hg38)
Size:
111,083 bases
Orientation:
Minus strand
chr10:32,556,679-32,667,726
(GRCh37/hg19)
Size:
111,048 bases
Orientation:
Minus strand

Genomic View for EPC1 Gene

Genes around EPC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPC1 Gene

Proteins for EPC1 Gene

  • Protein details for EPC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H2F5-EPC1_HUMAN
    Recommended name:
    Enhancer of polycomb homolog 1
    Protein Accession:
    Q9H2F5
    Secondary Accessions:
    • B4DSC3
    • D3DRX7
    • Q5VW54
    • Q5VW56
    • Q5VW58
    • Q8NAQ4
    • Q8NE21
    • Q96LF4
    • Q96RR6
    • Q9H7T7

    Protein attributes for EPC1 Gene

    Size:
    836 amino acids
    Molecular mass:
    93463 Da
    Quaternary structure:
    • Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5/TIP60 and the subunits EP400, TRRAP/PAF400, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, ING3, actin, ACTL6A/BAF53A, MORF4L1/MRG15, MORF4L2/MRGX, MRGBP, YEATS4/GAS41, VPS72/YL1 and MEAF6. HTATTIP/TIP60, EPC1, and ING3 together constitute a minimal HAT complex termed Piccolo NuA4. Component of a NuA4-related complex which contains EP400, TRRAP/PAF400, SRCAP, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, actin, ACTL6A/BAF53A, VPS72 and YEATS4/GAS41. The NuA4 complex interacts with MYC and the adenovirus E1A protein. EPC1 interacts with TRIM27.
    SequenceCaution:
    • Sequence=BAB14888.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC03857.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305};

    Alternative splice isoforms for EPC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPC1 Gene

Post-translational modifications for EPC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EPC1 Gene

No data available for DME Specific Peptides for EPC1 Gene

Domains & Families for EPC1 Gene

Gene Families for EPC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for EPC1 Gene

Suggested Antigen Peptide Sequences for EPC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H2F5

UniProtKB/Swiss-Prot:

EPC1_HUMAN :
  • Belongs to the enhancer of polycomb family.
Family:
  • Belongs to the enhancer of polycomb family.
genes like me logo Genes that share domains with EPC1: view

Function for EPC1 Gene

Molecular function for EPC1 Gene

UniProtKB/Swiss-Prot Function:
Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when directly recruited to sites of DNA damage.

Phenotypes From GWAS Catalog for EPC1 Gene

Gene Ontology (GO) - Molecular Function for EPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004402 contributes_to histone acetyltransferase activity IDA 14966270
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with EPC1: view
genes like me logo Genes that share phenotypes with EPC1: view

Animal Models for EPC1 Gene

MGI Knock Outs for EPC1:
  • Epc1 Epc1<tm1a(EUCOMM)Wtsi>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPC1 Gene

Localization for EPC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPC1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EPC1 gene
Compartment Confidence
nucleus 5
cytosol 1

Gene Ontology (GO) - Cellular Components for EPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 10976108
GO:0005654 nucleoplasm TAS,IDA --
GO:0031965 nuclear membrane IDA 10976108
GO:0032777 Piccolo NuA4 histone acetyltransferase complex IDA 14966270
GO:0035267 NuA4 histone acetyltransferase complex IDA 14966270
genes like me logo Genes that share ontologies with EPC1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EPC1 Gene

Pathways & Interactions for EPC1 Gene

genes like me logo Genes that share pathways with EPC1: view

Pathways by source for EPC1 Gene

Gene Ontology (GO) - Biological Process for EPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 10976108
GO:0006325 chromatin organization IEA --
GO:0006351 transcription, DNA-templated TAS 10976108
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA,IEA --
genes like me logo Genes that share ontologies with EPC1: view

No data available for SIGNOR curated interactions for EPC1 Gene

Drugs & Compounds for EPC1 Gene

No Compound Related Data Available

Transcripts for EPC1 Gene

Unigene Clusters for EPC1 Gene

Enhancer of polycomb homolog 1 (Drosophila):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EPC1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b
SP1: - - - -
SP2: - - - - -
SP3:
SP4: -
SP5:
SP6: -
SP7:

Relevant External Links for EPC1 Gene

GeneLoc Exon Structure for
EPC1
ECgene alternative splicing isoforms for
EPC1

Expression for EPC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EPC1 Gene

Protein differential expression in normal tissues from HIPED for EPC1 Gene

This gene is overexpressed in Heart (29.7), Peripheral blood mononuclear cells (14.7), CD8 Tcells (13.3), and Blymphocyte (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EPC1 Gene



Protein tissue co-expression partners for EPC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EPC1 Gene:

EPC1

SOURCE GeneReport for Unigene cluster for EPC1 Gene:

Hs.167805

Evidence on tissue expression from TISSUES for EPC1 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with EPC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EPC1 Gene

Orthologs for EPC1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for EPC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EPC1 34 33
  • 99.9 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EPC1 34 33
  • 95.77 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EPC1 34
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPC1 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EPC1 34 33
  • 92.38 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Epc1 33
  • 90.07 (n)
mouse
(Mus musculus)
Mammalia Epc1 16 34 33
  • 88.64 (n)
chicken
(Gallus gallus)
Aves EPC1 34 33
  • 88.2 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPC1 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epc1 33
  • 83.12 (n)
zebrafish
(Danio rerio)
Actinopterygii EPC1 (2 of 2) 34
  • 65 (a)
OneToMany
epc1 34 33
  • 64.05 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta E(Pc) 34 35
  • 12 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y111B2A.11 35
  • 33 (a)
epc-1 34
  • 22 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EPL1 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
OneToMany
Species where no ortholog for EPC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EPC1 Gene

ENSEMBL:
Gene Tree for EPC1 (if available)
TreeFam:
Gene Tree for EPC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EPC1: view image

Paralogs for EPC1 Gene

Paralogs for EPC1 Gene

(3) SIMAP similar genes for EPC1 Gene using alignment to 1 proteins:

  • EPC1_HUMAN
genes like me logo Genes that share paralogs with EPC1: view

Variants for EPC1 Gene

Sequence variations from dbSNP and Humsavar for EPC1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000002621 -- 32,275,353(-) G/C genic_downstream_transcript_variant, intron_variant
rs1000005418 -- 32,355,626(-) T/G genic_upstream_transcript_variant, intron_variant
rs1000049265 -- 32,316,705(-) T/A genic_downstream_transcript_variant, intron_variant
rs1000120800 -- 32,315,221(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000141739 -- 32,360,807(-) T/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EPC1 Gene

Variant ID Type Subtype PubMed ID
esv1550783 CNV deletion 17803354
esv3578754 CNV loss 25503493
esv3622828 CNV loss 21293372
nsv472286 CNV novel sequence insertion 20440878
nsv825334 CNV gain 20364138
nsv951536 CNV duplication 24416366

Variation tolerance for EPC1 Gene

Residual Variation Intolerance Score: 4.32% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.94; 67.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPC1 Gene

Human Gene Mutation Database (HGMD)
EPC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPC1 Gene

Disorders for EPC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EPC1 Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
adult t-cell leukemia
  • adult t-cell leukemia/lymphoma
- elite association - COSMIC cancer census association via MalaCards
Search EPC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EPC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EPC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EPC1 Gene

Publications for EPC1 Gene

  1. RET finger protein is a transcriptional repressor and interacts with enhancer of polycomb that has dual transcriptional functions. (PMID: 10976108) Shimono Y … Takahashi M (The Journal of biological chemistry 2000) 2 3 4 58
  2. A genome-wide association study of female sexual dysfunction. (PMID: 22509378) Burri A … Spector TD (PloS one 2012) 3 44 58
  3. KIF5B gene sequence variation and response of cardiac stroke volume to regular exercise. (PMID: 18984674) Argyropoulos G … Rankinen T (Physiological genomics 2009) 3 44 58
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for EPC1 Gene

Sources for EPC1 Gene

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