• Gene id: 80314

Gene Summary

• Gene Symbol: EPC1   Gene   UCSC   Ensembl
• Aliases: Epl1
• Gene name: enhancer of polycomb homolog 1
• Alternate names: enhancer of polycomb homolog 1,
• Gene location: 10p11.22 (32378794: 32267715)     Exons: 18     NC_000010.11
• Gene summary(Entrez): 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
• OMIM: 610999

Protein Summary

• Protein general information: Q9H2F5  
  • Name: Enhancer of polycomb homolog 1
  • Length: 836  
  • Mass: 93463
• Sequence:

  MSKLSFRARALDASKPLPVFRCEDLPDLHEYASINRAVPQMPTGMEKEEESEHHLQRAISAQQVYGEKRDNMVIP
  VPEAESNIAYYESIYPGEFKMPKQLIHIQPFSLDAEQPDYDLDSEDEVFVNKLKKKMDICPLQFEEMIDRLEKGS
  GQQPVSLQEAKLLLKEDDELIREVYEYWIKKRKNCRGPSLIPSVKQEKRDGSSTNDPYVAFRRRTEKMQTRKNRK
  NDEASYEKMLKLRRDLSRAVTILEMIKRREKSKRELLHLTLEIMEKRYNLGDYNGEIMSEVMAQRQPMKPTYAIP
  IIPITNSSQFKHQEAMDVKEFKVNKQDKADLIRPKRKYEKKPKVLPSSAAATPQQTSPAALPVFNAKDLNQYDFP
  SSDEEPLSQVLSGSSEAEEDNDPDGPFAFRRKAGCQYYAPHLDQTGNWPWTSPKDGGLGDVRYRYCLTTLTVPQR
  CIGFARRRVGRGGRVLLDRAHSDYDSVFHHLDLEMLSSPQHSPVNQFANTSETNTSDKSFSKDLSQILVNIKSCR
  WRHFRPRTPSLHDSDNDELSCRKLYRSINRTGTAQPGTQTCSTSTQSKSSSGSAHFAFTAEQYQQHQQQLALMQK
  QQLAQIQQQQANSNSSTNTSQNLASNQQKSGFRLNIQGLERTLQGFVSKTLDSASAQFAASALVTSEQLMGFKMK
  DDVVLGIGVNGVLPASGVYKGLHLSSTTPTALVHTSPSTAGSALLQPSNITQTSSSHSALSHQVTAANSATTQVL
  IGNNIRLTVPSSVATVNSIAPINARHIPRTLSAVPSSALKLAAAANCQVSKVPSSSSVDSVPRENHESEKPALNN
  IADNTVAMEVT

• Structural information:
  • Interpro: IPR024943  IPR019542  IPR009607  
  • PDB: 6NFX
  • PDBsum: 6NFX
  • STRING: ENSP00000263062
• Other Databases: GeneCards:  EPC1  Malacards:  EPC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0004402	histone acetyltransferase activity	IBA	contributes to
GO:0032777	Piccolo NuA4 histone acetyltransferase complex	IBA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0035267	NuA4 histone acetyltransferase complex	IEA	cellular component
GO:0032777	Piccolo NuA4 histone acetyltransferase complex	IEA	cellular component
GO:0006325	chromatin organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0040008	regulation of growth	IEA	biological process
GO:0005654	nucleoplasm	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045814	negative regulation of gene expression, epigenetic	IDA	biological process
GO:0031965	nuclear membrane	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0070317	negative regulation of G0 to G1 transition	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0035886	vascular smooth muscle cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0043967	histone H4 acetylation	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0035267	NuA4 histone acetyltransferase complex	IDA	cellular component
GO:0004402	histone acetyltransferase activity	IDA	contributes to
GO:0043968	histone H2A acetylation	IDA	biological process
GO:0032777	Piccolo NuA4 histone acetyltransferase complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	TAS	biological process
GO:0006351	transcription, DNA-templated	TAS	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq