EPC1 - enhancer of polycomb homolog 1 Gene

Also Known as Epl1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80314

About EPC1

Cytogenetic location: 10p11.22 Genomic coordinates (GRCh38): 10:32,267,751-32,378,769 (from NCBI)

This gene has 10 transcripts (splice variants), 221 orthologues and 1 paralogue. Ubiquitous expression in bone marrow (RPKM 17.1), ovary (RPKM 10.0) and 25 other tissues.

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]

EPC1 Products (8)

mRNA	Protein	Name
NM_001272004.3	NP_001258933.1	enhancer of polycomb homolog 1 isoform b
NM_001272019.4	NP_001258948.1	enhancer of polycomb homolog 1 isoform c
NM_001282391.3	NP_001269320.1	enhancer of polycomb homolog 1 isoform d
NM_001382753.1	NP_001369682.1	enhancer of polycomb homolog 1 isoform e
NM_001382754.1	NP_001369683.1	enhancer of polycomb homolog 1 isoform f
NM_001382755.1	NP_001369684.1	enhancer of polycomb homolog 1 isoform g
NM_001382756.1	NP_001369685.1	enhancer of polycomb homolog 1 isoform h
NM_025209.5	NP_079485.1	enhancer of polycomb homolog 1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables chromatin-protein adaptor activity	IDA IDA: Inferred from direct assay	32209463	GOA
enables enzyme-substrate adaptor activity	IDA IDA: Inferred from direct assay	28694333	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in double-strand break repair via homologous recombination	IDA IDA: Inferred from direct assay	27153538	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	10976108	GOA
acts upstream of or within negative regulation of gene expression, epigenetic	IDA IDA: Inferred from direct assay	10976108	GOA
acts upstream of or within negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	10976108	GOA
involved in positive regulation of double-strand break repair via homologous recombination	IDA IDA: Inferred from direct assay	27153538	GOA
acts upstream of or within positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	10976108	GOA
involved in regulation of cell cycle	IMP IMP: Inferred from mutant phenotype	27153538	GOA
involved in sperm DNA condensation	IMP IMP: Inferred from mutant phenotype	28694333	GOA
involved in spermatid development	IMP IMP: Inferred from mutant phenotype	28694333	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of NuA4 histone acetyltransferase complex	IDA IDA: Inferred from direct assay	14966270	GOA
located in nuclear membrane	IDA IDA: Inferred from direct assay	10976108	GOA
located in nucleoplasm	IDA IDA: Inferred from direct assay	10976108	GOA
part of nucleosome	IDA IDA: Inferred from direct assay	27153538	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10976108	GOA
part of piccolo histone acetyltransferase complex	IDA IDA: Inferred from direct assay	14966270	GOA
is active in site of double-strand break	IDA IDA: Inferred from direct assay	27153538	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EPC1 Protein Structure

EPL1

E_Pc_C

0
200
400
600
836 a.a.

Protein Preferred Names	Protein Names
enhancer of polycomb homolog 1

EPC1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	EPC1	Q9H2F5	MBTD1	Homo sapiens	Q05BQ5	Anti Tag CoIP	27153538
Intra	EPC1	Q9H2F5	RINT1	Homo sapiens	Q6NUQ1	Y2H Prey Pooling	25416956
Intra	EPC1	Q9H2F5	RINT1	Homo sapiens	Q6NUQ1	Y2H Array	31515488
Intra	EPC1	Q9H2F5	RINT1	Homo sapiens	Q6NUQ1	Y2H Array	25416956
Intra	EPC1	Q9H2F5	KRT15	Homo sapiens	P19012	Y2H Array	25416956
Intra	EPC1	Q9H2F5	BRD8	Homo sapiens	Q9H0E9	Anti Tag CoIP	27153538

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Adult T-Cell Leukemia/Lymphoma	Adult T-Cell Leukemia Atll Adult T-Cell Leukaemia Adult T-Cell Leukaemia/Lymphoma Adult T-Cell Lymphoma T Cell Leukemia Lymphoma Adult Leukemia-Lymphoma, Adult T-Cell Leukemia, T-Cell Adult T-Cell Lymphoma/Leukemia
Apolipoprotein C-Iii Deficiency	Hyperalphalipoproteinemia 2 HALP2
Noonan Syndrome 11	NS11
Noonan Syndrome 8	NS8 Noonan Syndrome, Type 8
Noonan Syndrome 4	NS4 Noonan Syndrome, Type 4
Endometrial Stromal Sarcoma	Ess Endometrial Stromal Sarcoma, High Grade Undifferentiated Endometrial Sarcoma Stromal Sarcoma Of The Corpus Uteri Sarcoma Endometrial Stromal Sarcoma, Endometrial Stromal Undifferentiated Stromal Sarcoma

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04418	EPC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS12725	SERPINF1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18213	Serpinf1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	EPC1	MGD	MGI:1278322
Bos taurus	EPC1	VGNC	VGNC:28527
Macaca mulatta	EPC1	VGNC	VGNC:72074
Felis catus	EPC1	VGNC	VGNC:61898
Canis familiaris	EPC1	VGNC	VGNC:40400
Rattus norvegicus	EPC1	RGD	RGD:2324280
Others	EPC1	NCBI