• Gene id: 11128

Gene Summary

• Gene Symbol: POLR3A   Gene   UCSC   Ensembl
• Aliases: ADDH, C160, HLD7, RPC1, RPC155, WDRTS, hRPC155
• Gene name: RNA polymerase III subunit A
• Alternate names: DNA-directed RNA polymerase III subunit RPC1, DNA-directed RNA polymerase III largest subunit, DNA-directed RNA polymerase III subunit A, RNA polymerase III 155 kDa subunit, RNA polymerase III subunit C1, RNA polymerase III subunit C160, RNA polymerase III subu,
• Gene location: 10q22.3 (78029514: 77975148)     Exons: 31     NC_000010.11
• Gene summary(Entrez): The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011]
• OMIM: 614258

Protein Summary

• Protein general information: O14802  
  • Name: DNA directed RNA polymerase III subunit RPC1 (RNA polymerase III subunit C1) (EC 2.7.7.6) (DNA directed RNA polymerase III largest subunit) (DNA directed RNA polymerase III subunit A) (RNA polymerase III 155 kDa subunit) (RPC155) (RNA polymerase III subun
  • Length: 1390  
  • Mass: 155641
  • Tissue specificity: Expressed in the brain, in the cortex and the white matter (at protein level). {ECO
• Sequence:

  MVKEQFRETDVAKKISHICFGMKSPEEMRQQAHIQVVSKNLYSQDNQHAPLLYGVLDHRMGTSEKDRPCETCGKN
  LADCLGHYGYIDLELPCFHVGYFRAVIGILQMICKTCCHIMLSQEEKKQFLDYLKRPGLTYLQKRGLKKKISDKC
  RKKNICHHCGAFNGTVKKCGLLKIIHEKYKTNKKVVDPIVSNFLQSFETAIEHNKEVEPLLGRAQENLNPLVVLN
  LFKRIPAEDVPLLLMNPEAGKPSDLILTRLLVPPLCIRPSVVSDLKSGTNEDDLTMKLTEIIFLNDVIKKHRISG
  AKTQMIMEDWDFLQLQCALYINSELSGIPLNMAPKKWTRGFVQRLKGKQGRFRGNLSGKRVDFSGRTVISPDPNL
  RIDEVAVPVHVAKILTFPEKVNKANINFLRKLVQNGPEVHPGANFIQQRHTQMKRFLKYGNREKMAQELKYGDIV
  ERHLIDGDVVLFNRQPSLHKLSIMAHLARVKPHRTFRFNECVCTPYNADFDGDEMNLHLPQTEEAKAEALVLMGT
  KANLVTPRNGEPLIAAIQDFLTGAYLLTLKDTFFDRAKACQIIASILVGKDEKIKVRLPPPTILKPVTLWTGKQI
  FSVILRPSDDNPVRANLRTKGKQYCGKGEDLCANDSYVTIQNSELMSGSMDKGTLGSGSKNNIFYILLRDWGQNE
  AADAMSRLARLAPVYLSNRGFSIGIGDVTPGQGLLKAKYELLNAGYKKCDEYIEALNTGKLQQQPGCTAEETLEA
  LILKELSVIRDHAGSACLRELDKSNSPLTMALCGSKGSFINISQMIACVGQQAISGSRVPDGFENRSLPHFEKHS
  KLPAAKGFVANSFYSGLTPTEFFFHTMAGREGLVDTAVKTAETGYMQRRLVKSLEDLCSQYDLTVRSSTGDIIQF
  IYGGDGLDPAAMEGKDEPLEFKRVLDNIKAVFPCPSEPALSKNELILTTESIMKKSEFLCCQDSFLQEIKKFIKG
  VSEKIKKTRDKYGINDNGTTEPRVLYQLDRITPTQVEKFLETCRDKYMRAQMEPGSAVGALCAQSIGEPGTQMTL
  KTFHFAGVASMNITLGVPRIKEIINASKAISTPIITAQLDKDDDADYARLVKGRIEKTLLGEISEYIEEVFLPDD
  CFILVKLSLERIRLLRLEVNAETVRYSICTSKLRVKPGDVAVHGEAVVCVTPRENSKSSMYYVLQFLKEDLPKVV
  VQGIPEVSRAVIHIDEQSGKEKYKLLVEGDNLRAVMATHGVKGTRTTSNNTYEVEKTLGIEAARTTIINEIQYTM
  VNHGMSIDRRHVMLLSDLMTYKGEVLGITRFGLAKMKESVLMLASFEKTADHLFDAAYFGQKDSVCGVSECIIMG
  IPMNIGTGLFKLLHKADRDPNPPKRPLIFDTNEFHIPLVT

• Structural information:
  • Interpro: IPR000722  IPR006592  IPR007080  IPR007066  IPR042102   IPR007083  IPR007081  IPR035698  IPR035697  IPR038120  
  • CDD: cd02736 cd02583
  • STRING: ENSP00000361446
• Other Databases: GeneCards:  POLR3A  Malacards:  POLR3A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	IBA	contributes to
GO:0005666	RNA polymerase III complex	IBA	cellular component
GO:0045087	innate immune response	IMP	biological process
GO:0032728	positive regulation of interferon-beta production	IMP	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:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0051607	defense response to virus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	IEA	molecular function
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	IEA	molecular function
GO:0005666	RNA polymerase III complex	IDA	cellular component
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:0003682	chromatin binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	NAS	molecular function
GO:0006351	transcription, DNA-templated	NAS	biological process

KEGG pathways

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

Diseases

Associated diseases	References
Hypomyelinating leukodystrophy	KEGG:H00679
Hypomyelinating leukodystrophy	KEGG:H00679
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881