• Gene id: 171568

Gene Summary

• Gene Symbol: POLR3H   Gene   UCSC   Ensembl
• Aliases: C25, RPC22.9, RPC8
• Gene name: RNA polymerase III subunit H
• Alternate names: DNA-directed RNA polymerase III subunit RPC8, DNA-directed RNA polymerase III subunit 22.9 kDa polypeptide, DNA-directed RNA polymerase III subunit H, RNA nucleotidyltransferase (DNA-directed), RNA polymerase III subunit C8, polymerase (RNA) III (DNA directed),
• Gene location: 22q13.2 (41544605: 41525798)     Exons: 9     NC_000022.11

Protein Summary

• Protein general information: Q9Y535  
  • Name: DNA directed RNA polymerase III subunit RPC8 (RNA polymerase III subunit C8) (DNA directed RNA polymerase III subunit H) (RNA polymerase III subunit 22.9 kDa subunit) (RPC22.9)
  • Length: 204  
  • Mass: 22918
• Sequence:

  MFVLVEMVDTVRIPPWQFERKLNDSIAEELNKKLANKVVYNVGLCICLFDITKLEDAYVFPGDGASHTKVHFRCV
  VFHPFLDEILIGKIKGCSPEGVHVSLGFFDDILIPPESLQQPAKFDEAEQVWVWEYETEEGAHDLYMDTGEEIRF
  RVVDESFVDTSPTGPSSADATTSSEELPKKEAPYTLVGSISEPGLGLLSWWTSN

• Structural information:
  • Interpro: IPR012340  IPR013238  IPR036898  IPR004519  IPR005576  
  • STRING: ENSP00000347345
• Other Databases: GeneCards:  POLR3H  Malacards:  POLR3H

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005666	RNA polymerase III complex	IBA	cellular component
GO:0006384	transcription initiation from RNA polymerase III promoter	IBA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	IEA	molecular function
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0051607	defense response to virus	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	IEA	molecular function
GO:0032481	positive regulation of type I interferon production	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0006383	transcription by RNA polymerase III	IDA	biological process
GO:0005654	nucleoplasm	IDA	cellular component
GO:0006139	nucleobase-containing compound metabolic process	IDA	biological process
GO:0005666	RNA polymerase III complex	IDA	cellular component
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04623	Cytosolic DNA-sensing pathway
hsa03020	RNA polymerase

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray