• Gene id: 221830

Gene Summary

• Gene Symbol: POLR1F   Gene   UCSC   Ensembl
• Aliases: A43, RPA43, TWISTNB
• Gene name: RNA polymerase I subunit F
• Alternate names: DNA-directed RNA polymerase I subunit RPA43, twist neighbor protein,
• Gene location: 7p21.1 (19709036: 19695460)     Exons: 4     NC_000007.14
• OMIM: 608312

Protein Summary

• Protein general information: Q3B726  
  • Name: DNA directed RNA polymerase I subunit RPA43 (Twist neighbor protein)
  • Length: 338  
  • Mass: 37432
  • Tissue specificity: Widely expressed. Expressed in all fetal and adult tissues tested, with highest expression in fetal lung, liver, and kidney, and low expression in all adult tissues. {ECO
• Sequence:

  MAAGCSEAPRPAAASDGSLVGQAGVLPCLELPTYAAACALVNSRYSCLVAGPHQRHIALSPRYLNRKRTGIREQL
  DAELLRYSESLLGVPIAYDNIKVVGELGDIYDDQGHIHLNIEADFVIFCPEPGQKLMGIVNKVSSSHIGCLVHGC
  FNASIPKPEQLSAEQWQTMEINMGDELEFEVFRLDSDAAGVFCIRGKLNITSLQFKRSEVSEEVTENGTEEAAKK
  PKKKKKKKDPETYEVDSGTTKLADDADDTPMEESALQNTNNANGIWEEEPKKKKKKKKHQEVQDQDPVFQGSDSS
  GYQSDHKKKKKKRKHSEEAEFTPPLKCSPKRKGKSNFL

• Structural information:
  • Interpro: IPR036898  IPR041901  IPR041178  IPR005576  
  • CDD: cd04328
  • STRING: ENSP00000222567
• Other Databases: GeneCards:  POLR1F  Malacards:  POLR1F

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005736	RNA polymerase I complex	IBA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	IEA	molecular function
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:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:0005730	nucleolus	IEA	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)