• Gene id: 64425

Gene Summary

• Gene Symbol: POLR1E   Gene   UCSC   Ensembl
• Aliases: A49, PAF53, PRAF1
• Gene name: RNA polymerase I subunit E
• Alternate names: DNA-directed RNA polymerase I subunit RPA49, DNA-directed RNA polymerase I subunit E, RNA polymerase I subunit A49, RNA polymerase I-associated factor 53, polymerase (RNA) I associated factor 1, polymerase (RNA) I polypeptide E, 53kDa, polymerase (RNA) I subuni,
• Gene location: 9p13.2 (37485934: 37503696)     Exons: 13     NC_000009.12

Protein Summary

• Protein general information: Q9GZS1  
  • Name: DNA directed RNA polymerase I subunit RPA49 (RNA polymerase I subunit A49) (DNA directed RNA polymerase I subunit E) (RNA polymerase I associated factor 1) (RNA polymerase I associated factor 53)
  • Length: 419  
  • Mass: 47260
• Sequence:

  MAAEVLPSARWQYCGAPDGSQRAVLVQFSNGKLQSPGNMRFTLYENKDSTNPRKRNQRILAAETDRLSYVGNNFG
  TGALKCNTLCRHFVGILNKTSGQMEVYDAELFNMQPLFSDVSVESELALESQTKTYREKMDSCIEAFGTTKQKRA
  LNTRRMNRVGNESLNRAVAKAAETIIDTKGVTALVSDAIHNDLQDDSLYLPPCYDDAAKPEDVYKFEDLLSPAEY
  EALQSPSEAFRNVTSEEILKMIEENSHCTFVIEALKSLPSDVESRDRQARCIWFLDTLIKFRAHRVVKRKSALGP
  GVPHIINTKLLKHFTCLTYNNGRLRNLISDSMKAKITAYVIILALHIHDFQIDLTVLQRDLKLSEKRMMEIAKAM
  RLKISKRRVSVAAGSEEDHKLGTLSLPLPPAQTSDRLAKRRKIT

• Structural information:
  • Interpro: IPR009668  
  • DIP: 27546
  • STRING: ENSP00000367029
• Other Databases: GeneCards:  POLR1E  Malacards:  POLR1E

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005730	nucleolus	ISS	cellular component
GO:0001188	RNA polymerase I preinitiation complex assembly	IBA	biological process
GO:0005736	RNA polymerase I complex	IBA	cellular component
GO:0006362	transcription elongation from RNA polymerase I promoter	IBA	biological process
GO:0042790	nucleolar large rRNA transcription by RNA polymerase I	IBA	biological process
GO:0042790	nucleolar large rRNA transcription by RNA polymerase I	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042025	host cell nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006361	transcription initiation from RNA polymerase I promoter	TAS	biological process
GO:0006361	transcription initiation from RNA polymerase I promoter	TAS	biological process
GO:0006362	transcription elongation from RNA polymerase I promoter	TAS	biological process
GO:0006363	termination of RNA polymerase I transcription	TAS	biological process
GO:0045815	positive regulation of gene expression, epigenetic	TAS	biological process
GO:0005736	RNA polymerase I complex	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0001188	RNA polymerase I preinitiation complex assembly	IEA	biological process
GO:0001179	RNA polymerase I general transcription initiation factor binding	IEA	molecular function
GO:0005730	nucleolus	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03020	RNA polymerase

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)