Epc1 enhancer of polycomb homolog 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Epc1provided by MGI
Official Full Name: enhancer of polycomb homolog 1provided by MGI
Primary source: MGI:MGI:1278322
See related: Ensembl:ENSMUSG00000024240 AllianceGenome:MGI:1278322
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mir-1893; 2400007E14Rik; 5730566F07Rik; A930032N02Rik
Summary: Predicted to enable chromatin-protein adaptor activity. Predicted to be involved in double-strand break repair via homologous recombination; regulation of cell cycle; and regulation of nucleobase-containing compound metabolic process. Predicted to act upstream of or within positive regulation of striated muscle cell differentiation and regulation of gene expression. Predicted to be located in nuclear body; nuclear membrane; and nucleolus. Predicted to be part of NuA4 histone acetyltransferase complex; nucleosome; and piccolo histone acetyltransferase complex. Predicted to be active in site of double-strand break. Is expressed in several structures, including blood vessel endothelium; brain; heart; retina; and skeletal muscle. Orthologous to human EPC1 (enhancer of polycomb homolog 1). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in CNS E14 (RPKM 19.2), whole brain E14.5 (RPKM 18.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 A1; 18 4.48 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (6435951..6516108, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (6435951..6516108, complement)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results report that EPC1 and TIP60 are co-expressed in male germ cells. Genetic ablation of either Epc1 or Tip60 disrupts hyperacetylation and impairs histone replacement, in turn causing aberrant spermatid development.
Title: EPC1/TIP60-Mediated Histone Acetylation Facilitates Spermiogenesis in Mice.
results indicate that Epc1 induces vascular smooth muscle differentiation by interacting with myocardin to induce serum response factor-dependent smooth muscle genes; propose that Epc1 acts as a novel negative regulator of neointima formation after carotid injury
Title: Enhancer of polycomb1 lessens neointima formation by potentiation of myocardin-induced smooth muscle differentiation.
Epc1-induced enhancements of SRF-dependent multinucleation, transactivation of the skeletal alpha-actin promoter, binding of SRF to the serum response element, and muscle-specific gene induction were blocked by RFP.
Title: Ret finger protein inhibits muscle differentiation by modulating serum response factor and enhancer of polycomb1.
Epc1 is required for skeletal muscle differentiation by recruiting both SRF and p300 to the SRE of muscle-specific gene promoters
Title: Enhancer of polycomb1 acts on serum response factor to regulate skeletal muscle differentiation.
showed that E2F6, DP1, EPC1, EZH2, and Sin3B co-elute, suggesting the identification of a novel E2F6 complex that exists in vivo in both normal and transformed human cell lines
Title: A novel repressive E2F6 complex containing the polycomb group protein, EPC1, that interacts with EZH2 in a proliferation-specific manner.
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.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_33810-33811:1053549243:1 (e-PCR)
- UniSTS:471508

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables chromatin-protein adaptor activity	ISO Inferred from Sequence Orthology more info
enables chromatin-protein adaptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables enzyme-substrate adaptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in double-strand break repair via homologous recombination	ISO Inferred from Sequence Orthology more info
involved_in double-strand break repair via homologous recombination	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of gene expression, epigenetic	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info	PubMed
involved_in positive regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of double-strand break repair via homologous recombination	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of striated muscle cell differentiation	ISA Inferred from Sequence Alignment more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	ISA Inferred from Sequence Alignment more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info	PubMed
involved_in regulation of apoptotic process	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of cell cycle	ISO Inferred from Sequence Orthology more info
involved_in regulation of chromatin organization	NAS Non-traceable Author Statement 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	IEA Inferred from Electronic Annotation more info
involved_in vascular associated smooth muscle cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of NuA4 histone acetyltransferase complex	ISO Inferred from Sequence Orthology more info
part_of NuA4 histone acetyltransferase complex	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nuclear body	IEA Inferred from Electronic Annotation more info
located_in nuclear body	ISO Inferred from Sequence Orthology more info
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info	PubMed
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info	PubMed
part_of nucleosome	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
part_of piccolo histone acetyltransferase complex	ISS Inferred from Sequence or Structural Similarity more info
located_in site of double-strand break	IEA Inferred from Electronic Annotation more info
is_active_in site of double-strand break	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: enhancer of polycomb homolog 1

NCBI Reference Sequences (RefSeq)

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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)

NM_001276350.1 → NP_001263279.1 enhancer of polycomb homolog 1 isoform 3

See identical proteins and their annotated locations for NP_001263279.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks several exons in the central and 3' coding regions and includes an alternate 3' terminal exon, resulting in a novel 3' coding region and 3' UTR, compared to variant 2. It encodes isoform 3 which is shorter and has a distinct C-terminus, compared to isoform 2.

Source sequence(s)

AC139300, AK040254, AV356347, BB343428, BC038636, BC055805

Consensus CDS

CCDS70868.1

UniProtKB/TrEMBL

Q6PBH3

Related

ENSMUSP00000060599.6, ENSMUST00000050542.6

Conserved Domains (1) summary

pfam10513
Location:6 → 51

EPL1; Enhancer of polycomb-like
NM_007935.2 → NP_031961.1 enhancer of polycomb homolog 1 isoform 1

See identical proteins and their annotated locations for NP_031961.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) differs in the 5' UTR and in the 5' coding region, compared to variant 2. It encodes isoform 1 which is shorter and has a distinct N-terminus, compared to isoform 2.

Source sequence(s)

AI849475, AK148194, AK149317, BB207261, BM936825, DV652878

Consensus CDS

CCDS37726.1

UniProtKB/TrEMBL

Q3UG01

Related

ENSMUSP00000111536.3, ENSMUST00000115870.9

Conserved Domains (2) summary

pfam06752
Location:572 → 763

E_Pc_C; Enhancer of Polycomb C-terminus

pfam10513
Location:1 → 98

EPL1; Enhancer of polycomb-like
NM_027497.3 → NP_081773.1 enhancer of polycomb homolog 1 isoform 2

See identical proteins and their annotated locations for NP_081773.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2).

Source sequence(s)

AC139300, AF079765, AK040254

Consensus CDS

CCDS29041.1

UniProtKB/Swiss-Prot

B2RRY2, Q8C9X6, Q9Z299

UniProtKB/TrEMBL

Q3UG01

Related

ENSMUSP00000028100.7, ENSMUST00000028100.13

Conserved Domains (2) summary

pfam06752
Location:622 → 813

E_Pc_C; Enhancer of Polycomb C-terminus

pfam10513
Location:7 → 148

EPL1; Enhancer of polycomb-like