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FLASH GENE

Symbol

EPC1

contributors: mct/npt - updated : 16-12-2009

HGNC name	enhancer of polycomb homolog 1, (Drosophila)
HGNC id	19876

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	10p11.22      Physical location : 32.557.858 - 32.636.113
Synonym name	enhancer of polycomb 1
Synonym symbol(s)	Epl1, DKFZp781P2312

DNA

TYPE	functioning gene
STRUCTURE	78.26 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_025209 15 - 2913 NP_079485 - 836 - Taniwaki (2009)

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	highly expressed in the embryonic heart (Kee 2007)

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an activating EPcA domain
	a repressive C terminal region

HOMOLOGY

interspecies

homolog to Drosophila enhancer of polycomb

Homologene

FAMILY

enhancer of polycomb family

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,matrix
	intracellular,nucleus,nucleoplasm
text	colocolizing with RFP

basic FUNCTION	both repressive and transactivating transcriptional activities
	plays a role in the initiation of skeletal muscle differentiation, and its interaction with HOPX is required for the full activity (Kee 2007)
	recruits both serum response factor (SRF) and EP300 to induce skeletal muscle differentiation (Kim 2009)
	required for skeletal muscle differentiation by recruiting both SRF and EP300 to the serum response element of muscle-specific gene promoters (Kim 2009)

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

complexing with E2F6 (E2F6-EPC1 complex) (E2F6-EPC1 interacts with EZH2 and may regulate genes required for cell cycle progression) (Attwooll 2005)

INTERACTION

DNA

RNA

small molecule

protein	coiled-coil domain of RFP
	complex (E2F6-EPC1) interacts with EZH2 and may regulate genes required for cell cycle progression
	interacted physically with SRF
	directly bound to EP300 in myoblast cells (Kim 2009)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       fusion with ASXL2 (EPC1/ASXL2 enhanced cell growth in T-leukemia cells) (Nakahata 2009)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS