Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	80314
Gene name	Enhancer of polycomb 1
Gene symbol	EPC1
Synonyms (NCBI Gene)	Epl1
Chromosome	10
Chromosome location	10p11.22
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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT020301	hsa-miR-130b-3p	Sequencing	20371350
MIRT027161	hsa-miR-103a-3p	Sequencing	20371350
MIRT031262	hsa-miR-19b-3p	Sequencing	20371350
MIRT031856	hsa-miR-16-5p	Sequencing	20371350
MIRT440718	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440718	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT2524428	hsa-miR-188-5p	CLIP-seq
MIRT2524429	hsa-miR-3064-3p	CLIP-seq
MIRT2524430	hsa-miR-3160-5p	CLIP-seq
MIRT2524431	hsa-miR-33a	CLIP-seq
MIRT2524432	hsa-miR-33b	CLIP-seq
MIRT2524433	hsa-miR-3912	CLIP-seq
MIRT2524434	hsa-miR-4698	CLIP-seq
MIRT2524435	hsa-miR-4780	CLIP-seq
MIRT2524436	hsa-miR-587	CLIP-seq
MIRT2524437	hsa-miR-623	CLIP-seq
MIRT2524428	hsa-miR-188-5p	CLIP-seq
MIRT2524429	hsa-miR-3064-3p	CLIP-seq
MIRT2524430	hsa-miR-3160-5p	CLIP-seq
MIRT2524431	hsa-miR-33a	CLIP-seq
MIRT2524432	hsa-miR-33b	CLIP-seq
MIRT2524433	hsa-miR-3912	CLIP-seq
MIRT2524434	hsa-miR-4698	CLIP-seq
MIRT2524435	hsa-miR-4780	CLIP-seq
MIRT2524436	hsa-miR-587	CLIP-seq
MIRT2524437	hsa-miR-623	CLIP-seq

Show/Hide all (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10976108
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	32209463
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	27153538
GO:0000786	Component	Nucleosome	IDA	27153538
GO:0005515	Function	Protein binding	IPI	25416956, 27153538, 31515488, 32209463, 32296183
GO:0005634	Component	Nucleus	IDA	10976108, 17192267
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	14966270
GO:0005654	Component	Nucleoplasm	IDA	10976108
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IDA	27153538
GO:0006325	Process	Chromatin organization	IEA
GO:0006351	Process	DNA-templated transcription	TAS	10976108
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007286	Process	Spermatid development	IMP	28694333
GO:0016604	Component	Nuclear body	IDA
GO:0030154	Process	Cell differentiation	IEA
GO:0031965	Component	Nuclear membrane	IDA	10976108
GO:0032777	Component	Piccolo histone acetyltransferase complex	IBA
GO:0032777	Component	Piccolo histone acetyltransferase complex	IDA	14966270
GO:0035092	Process	Sperm DNA condensation	IMP	28694333
GO:0035267	Component	NuA4 histone acetyltransferase complex	IDA	14966270, 27153538, 32209463
GO:0035267	Component	NuA4 histone acetyltransferase complex	IEA
GO:0035861	Component	Site of double-strand break	IDA	27153538
GO:0042981	Process	Regulation of apoptotic process	NAS	14966270
GO:0045814	Process	Negative regulation of gene expression, epigenetic	IDA	10976108
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	10976108
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	27153538
GO:0045893	Process	Positive regulation of DNA-templated transcription	TAS	10976108
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	10976108
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	NAS	14966270
GO:0051726	Process	Regulation of cell cycle	IMP	27153538
GO:0140463	Function	Chromatin-protein adaptor activity	IDA	32209463
GO:0140767	Function	Enzyme-substrate adaptor activity	IDA	28694333
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IDA	27153538
GO:2000779	Process	Regulation of double-strand break repair	NAS	14966270

MIM	HGNC	e!Ensembl
610999	19876	ENSG00000120616

Q9H2F5

Protein name

Enhancer of polycomb homolog 1

Protein function

Component of the NuA4 histone acetyltransferase (HAT) complex, a multiprotein complex involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A (PubMed:14966270). The NuA4 complex plays

PDB

6NFX , 8QR1 , 8XVG , 8XVT , 9C57 , 9C62 , 9C6N

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10513	EPL1	7 → 149	Enhancer of polycomb-like	Family
PF06752	E_Pc_C	582 → 836	Enhancer of Polycomb C-terminus	Family

Sequence

MSKLSFRARALDASKPLPVFRCEDLPDLHEYASINRAVPQMPTGMEKEEESEHHLQRAIS
AQQVYGEKRDNMVIPVPEAESNIAYYESIYPGEFKMPKQLIHIQPFSLDAEQPDYDLDSE
DEVFVNKLKKKMDICPLQFEEMIDRLEKGSGQQPVSLQEAKLLLKEDDELIREVYEYWIK
KRKNCRGPSLIPSVKQEKRDGSSTNDPYVAFRRRTEKMQTRKNRKNDEASYEKMLKLRRD
LSRAVTILEMIKRREKSKRELLHLTLEIMEKRYNLGDYNGEIMSEVMAQRQPMKPTYAIP
IIPITNSSQFKHQEAMDVKEFKVNKQDKADLIRPKRKYEKKPKVLPSSAAATPQQTSPAA
LPVFNAKDLNQYDFPSSDEEPLSQVLSGSSEAEEDNDPDGPFAFRRKAGCQYYAPHLDQT
GNWPWTSPKDGGLGDVRYRYCLTTLTVPQRCIGFARRRVGRGGRVLLDRAHSDYDSVFHH
LDLEMLSSPQHSPVNQFANTSETNTSDKSFSKDLSQILVNIKSCRWRHFRPRTPSLHDSD
NDELSCRKLYRSINRTGTAQPGTQTCSTSTQSKSSSGSAHFAFTAEQYQQHQQQLALMQK
QQLAQIQQQQANSNSSTNTSQNLASNQQKSGFRLNIQGLERTLQGFVSKTLDSASAQFAA
SALVTSEQLMGFKMKDDVVLGIGVNGVLPASGVYKGLHLSSTTPTALVHTSPSTAGSALL
QPSNITQTSSSHSALSHQVTAANSATTQVLIGNNIRLTVPSSVATVNSIAPINARHIPRT
LSAVPSSALKLAAAANCQVSKVPSSSSVDSVPRENHESEKPALNNIADNTVAMEVT

Sequence length

836

Interactions

View interactions

	KEGG		Reactome
	ATP-dependent chromatin remodeling		Transcriptional Regulation by E2F6

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	26297437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	30841855		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	19484761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25755723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	36158885	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Stromal Sarcoma	Endometrial Stromal Sarcoma	BEFREE	16397222, 21836477, 22761769, 23580382, 24285434, 24530230, 28758277, 30144186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	29086334, 30841855		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	24671951	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	24166297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25755723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26732302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	34841830, 36158885	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16397222, 25755723, 26350215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Endometrial Stromal	Endometrial stromal sarcoma	Pubtator	22761769, 24285434	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36158885	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

EPC1 (enhancer of polycomb 1)