Human Gene EPC1 (ENST00000319778.11_8) from GENCODE V47lift37
  Description: enhancer of polycomb homolog 1, transcript variant 16 (from RefSeq NR_168511.1)
Gencode Transcript: ENST00000319778.11_8
Gencode Gene: ENSG00000120616.16_11
Transcript (Including UTRs)
   Position: hg19 chr10:32,556,679-32,636,086 Size: 79,408 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg19 chr10:32,557,991-32,635,843 Size: 77,853 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:32,556,679-32,636,086)mRNA (may differ from genome)Protein (813 aa)
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-  Comments and Description Text from UniProtKB
  ID: EPC1_HUMAN
DESCRIPTION: RecName: Full=Enhancer of polycomb homolog 1;
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.
SUBUNIT: 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.
SUBCELLULAR LOCATION: Nucleus.
SIMILARITY: Belongs to the enhancer of polycomb family.
SEQUENCE CAUTION: Sequence=BAB14888.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC03857.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: EPC1
Diseases sorted by gene-association score: adult t-cell leukemia (11)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.16 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 388.20 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -111.40243-0.458 Picture PostScript Text
3' UTR -332.501312-0.253 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR024943 - Enhancer_polycomb
IPR019542 - Enhancer_polycomb-like_N
IPR009607 - Enhancer_polycomb_C

Pfam Domains:
PF06752 - Enhancer of Polycomb C-terminus
PF10513 - Enhancer of polycomb-like

ModBase Predicted Comparative 3D Structure on Q9H2F5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0004402 histone acetyltransferase activity

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0035886 vascular smooth muscle cell differentiation
GO:0040008 regulation of growth
GO:0043967 histone H4 acetylation
GO:0043968 histone H2A acetylation
GO:0045814 negative regulation of gene expression, epigenetic
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0070317 negative regulation of G0 to G1 transition

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0031965 nuclear membrane
GO:0032777 Piccolo NuA4 histone acetyltransferase complex
GO:0035267 NuA4 histone acetyltransferase complex


-  Descriptions from all associated GenBank mRNAs
  AF286905 - Homo sapiens enhancer of polycomb 1 (EPC1) mRNA, complete cds.
AK299676 - Homo sapiens cDNA FLJ60343 complete cds, highly similar to Enhancer of polycomb homolog 1.
AK309309 - Homo sapiens cDNA, FLJ99350.
BC036529 - Homo sapiens enhancer of polycomb homolog 1 (Drosophila), mRNA (cDNA clone MGC:33656 IMAGE:4828057), complete cds.
AK024329 - Homo sapiens cDNA FLJ14267 fis, clone PLACE1002665, highly similar to Mus musculus enhancer of polycomb (Epc1) mRNA.
AK092304 - Homo sapiens cDNA FLJ34985 fis, clone OCBBF2001681, highly similar to Enhancer of polycomb.
AX747467 - Sequence 992 from Patent EP1308459.
AF277374 - Homo sapiens enhancer of polycomb mRNA, complete cds.
JD363801 - Sequence 344825 from Patent EP1572962.
JD416977 - Sequence 398001 from Patent EP1572962.
JD163980 - Sequence 145004 from Patent EP1572962.
KJ903297 - Synthetic construct Homo sapiens clone ccsbBroadEn_12691 EPC1 gene, encodes complete protein.
AK309822 - Homo sapiens cDNA, FLJ99863.
CR749375 - Homo sapiens mRNA; cDNA DKFZp781P2312 (from clone DKFZp781P2312).
FJ230887 - Homo sapiens EPC1/ASXL2a fusion protein mRNA, complete cds.
CU691366 - Synthetic construct Homo sapiens gateway clone IMAGE:100022714 5' read EPC1 mRNA.
JD021580 - Sequence 2604 from Patent EP1572962.
JD036320 - Sequence 17344 from Patent EP1572962.
JD021226 - Sequence 2250 from Patent EP1572962.
JD033033 - Sequence 14057 from Patent EP1572962.
JD518988 - Sequence 500012 from Patent EP1572962.
JD026696 - Sequence 7720 from Patent EP1572962.
JD020571 - Sequence 1595 from Patent EP1572962.
JD034650 - Sequence 15674 from Patent EP1572962.
JD021184 - Sequence 2208 from Patent EP1572962.
JD021185 - Sequence 2209 from Patent EP1572962.
JD029862 - Sequence 10886 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9H2F5 (Reactome details) participates in the following event(s):

R-HSA-8954117 E2F6:TFDP1 binds EPC1
R-HSA-8954110 E2F6:TFDP1:EPC1 binds the PRC2 complex
R-HSA-3321975 NuA4 complex acetylates histone H2A, HIST1H4
R-NUL-4551334 NuA4 complex actetylates H2A and H4
R-HSA-8953750 Transcriptional Regulation by E2F6
R-HSA-212436 Generic Transcription Pathway
R-HSA-3214847 HATs acetylate histones
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-74160 Gene expression (Transcription)
R-HSA-4839726 Chromatin organization

-  Other Names for This Gene
  Alternate Gene Symbols: B4DSC3, D3DRX7, ENST00000319778.1, ENST00000319778.10, ENST00000319778.2, ENST00000319778.3, ENST00000319778.4, ENST00000319778.5, ENST00000319778.6, ENST00000319778.7, ENST00000319778.8, ENST00000319778.9, EPC1 , EPC1_HUMAN, NR_168511, Q5VW54, Q5VW56, Q5VW58, Q8NAQ4, Q8NE21, Q96LF4, Q96RR6, Q9H2F5, Q9H7T7, uc317qsv.1, uc317qsv.2
UCSC ID: ENST00000319778.11_8
RefSeq Accession: NM_001272004.3
Protein: Q9H2F5 (aka EPC1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.