1. Gene
  2. EPC1 - enhancer of polycomb homolog 1 Gene

EPC1 - enhancer of polycomb homolog 1 Gene

Homo sapiens

Also known as Epl1

Gene ID: 80314 | Gene type: protein coding

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 Reference 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
Cellular Component GO Annotation Evidence Reference 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

EPL1: Enhancer of polycomb-like (6 - 148)

E_Pc_C

E_Pc_C: Enhancer of Polycomb C-terminus (582 - 836)

  • 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 Reference
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

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