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Aliases for EPC1 Gene

Aliases for EPC1 Gene

  • Enhancer Of Polycomb Homolog 1 (Drosophila) 2 3
  • 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 (Drosophila)) is a Protein Coding gene. Diseases associated with EPC1 include adult t-cell leukemia. Among its related pathways are Chromatin organization. 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

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

Genomics for EPC1 Gene

Regulatory Elements for EPC1 Gene

Genomic Location for EPC1 Gene

Chromosome:
10
Start:
32,267,716 bp from pter
End:
32,378,798 bp from pter
Size:
111,083 bases
Orientation:
Minus strand

Genomic View for EPC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for EPC1 Gene at MOPED

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

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

No data available for Gene Families for EPC1 Gene

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.

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 Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EPC1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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
Jensen Localization Image for EPC1 Gene COMPARTMENTS Subcellular localization image for EPC1 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for EPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 10976108
GO:0005654 nucleoplasm TAS --
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

Pathways & Interactions for EPC1 Gene

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

Pathways by source for EPC1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Epigenetic Chromatin Modification Enzymes in human,mouse,rat
    • Polycomb & Trithorax Complexes in human,mouse,rat

Gene Ontology (GO) - Biological Process for EPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 10976108
GO:0006325 chromatin organization TAS --
GO:0006351 transcription, DNA-templated TAS 10976108
GO:0035886 vascular smooth muscle cell differentiation IEA --
GO:0040008 regulation of growth 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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EPC1

Flow Cytometry 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 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, PaxDb, MOPED, and MaxQB for EPC1 Gene



SOURCE GeneReport for Unigene cluster for EPC1 Gene Hs.167805

genes like me logo Genes that share expression patterns with EPC1: view

Protein tissue co-expression partners for EPC1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia EPC1 35
  • 92.38 (n)
  • 95.93 (a)
EPC1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EPC1 35
  • 95.77 (n)
  • 98.09 (a)
EPC1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Epc1 35
  • 88.64 (n)
  • 92 (a)
Epc1 16
Epc1 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EPC1 35
  • 99.9 (n)
  • 100 (a)
EPC1 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Epc1 35
  • 90.07 (n)
  • 94.33 (a)
oppossum
(Monodelphis domestica)
Mammalia EPC1 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPC1 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPC1 35
  • 88.2 (n)
  • 93.42 (a)
EPC1 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPC1 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epc1 35
  • 83.12 (n)
  • 86.64 (a)
zebrafish
(Danio rerio)
Actinopterygii epc1 35
  • 64.05 (n)
  • 67.95 (a)
epc1 36
  • 64 (a)
OneToMany
EPC1 (2 of 2) 36
  • 65 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta E(Pc) 37
  • 57 (a)
E(Pc) 36
  • 12 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y111B2A.11 37
  • 33 (a)
epc-1 36
  • 22 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EPL1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToMany
Species with no ortholog for EPC1:
  • 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)

Paralogs for EPC1 Gene

Paralogs for EPC1 Gene

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

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 Sequence Context AA Info Type MAF
rs713267 -- 32,298,572(-) AGTAA(A/G)TAACA intron-variant
rs723270 -- 32,298,498(-) TAATC(A/C)TGCAG intron-variant
rs913369 -- 32,341,680(-) GCCTA(C/T)GCACC intron-variant
rs913370 -- 32,341,046(-) TTGAG(C/T)GTGTC intron-variant
rs927954 -- 32,343,564(-) AAATG(C/T)GAATT intron-variant

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)

Relevant External Links for EPC1 Gene

HapMap Linkage Disequilibrium report
EPC1
Human Gene Mutation Database (HGMD)
EPC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for EPC1 Gene

Disorders for EPC1 Gene

MalaCards: The human disease database

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

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

Relevant External Links for EPC1

Genetic Association Database (GAD)
EPC1
Human Genome Epidemiology (HuGE) Navigator
EPC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPC1
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. (J. Biol. Chem. 2000) 2 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 67
  4. Enhancers of Polycomb EPC1 and EPC2 sustain the oncogenic potential of MLL leukemia stem cells. (PMID: 24166297) Huang X. … Somervaille T.C. (Leukemia 2014) 67
  5. Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality. (PMID: 24159190) SeppAolAo I. … LehtimAoki T. (Eur. Heart J. 2014) 67

Products for EPC1 Gene

Sources for EPC1 Gene

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