POLR3C (RNA polymerase III subunit C)

Gene

• Entrez ID: 10623
• Gene name: RNA polymerase III subunit C
• Gene symbol: POLR3C
• Synonyms (NCBI Gene): C82, RPC3, RPC62
• Chromosome: 1
• Chromosome location: 1q21.1

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000428	Component	DNA-directed RNA polymerase complex	IEA
GO:0002376	Process	Immune system process	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003697	Function	Single-stranded DNA binding	IDA	21358628
GO:0003697	Function	Single-stranded DNA binding	IEA
GO:0003899	Function	DNA-directed RNA polymerase activity	TAS	9171375
GO:0005515	Function	Protein binding	IPI	11416169, 20154270, 21358628, 25416956, 28514442, 32296183, 33961781, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005666	Component	RNA polymerase III complex	IBA
GO:0005666	Component	RNA polymerase III complex	IDA	24107381, 33335104, 34675218
GO:0005666	Component	RNA polymerase III complex	IEA
GO:0005666	Component	RNA polymerase III complex	TAS	9171375
GO:0005829	Component	Cytosol	TAS
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006359	Process	Regulation of transcription by RNA polymerase III	TAS	9171375
GO:0032728	Process	Positive regulation of interferon-beta production	IMP	19609254
GO:0045087	Process	Innate immune response	IEA
GO:0045089	Process	Positive regulation of innate immune response	IMP	19609254
GO:0051607	Process	Defense response to virus	IEA

Other IDs

• MIM: 617454
• HGNC: 30076
• e!Ensembl: ENSG00000186141

Protein

• UniProt ID: Q9BUI4
• Protein name: DNA-directed RNA polymerase III subunit RPC3 (RNA polymerase III subunit C3) (DNA-directed RNA polymerase III subunit C) (RNA polymerase III 62 kDa subunit) (RPC62)
• Protein function: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates (PubMed:20413673, PubMed:33558764, PubMed:33558766, PubMed:34675218, PubMed:35637192). Specific peripheric compone
• PDB: 2XUB, 2XV4, 5AFQ, 7A6H, 7AE1, 7AE3, 7AEA, 7AST, 7D58, 7D59, 7DN3, 7DU2, 7FJI, 7FJJ, 8ITY, 8IUE, 8IUH, 9FSO, 9FSP, 9FSQ, 9FSR, 9FSS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08221	HTH_9	7 → 68	RNA polymerase III subunit RPC82 helix-turn-helix domain	Domain
  PF05645	RNA_pol_Rpc82	146 → 345	RNA polymerase III subunit RPC82	Family

• Sequence:

  MTQAEIKLCSLLLQEHFGEIVEKIGVHLIRTGSQPLRVIAHDTGTSLDQVKKALCVLVQH
  NLVSYQVHKRGVVEYEAQCSRVLRMLRYPRYIYTTKTLYSDTGELIVEELLLNGKLTMSA
  VVKKVADRLTETMEDGKTMDYAEVSNTFVRLADTHFVQRCPSVPTTENSDPGPPPPAPTL
  VINEKDMYLVPKLSLIGKGKRRRSSDEDAAGEPKAKRPKYTTDNKEPIPDDGIYWQANLD
  RFHQHFRDQAIVSAVANRMDQTSSEIVRTMLRMSEITTSSSAPFTQPLSSNEIFRSLPVG
  YNISKQVLDQYLTLLADDPLEFVGKSGDSGGGMYVINLHKALASLATATLESVVQERFGS
  RCARIFRLVLQKKHIEQKQVEDFAMIPAKEAKDMLYKMLSENFMSLQEIPKTPDHAPSRT
  FYLYTVNILSAARMLLHRCYKSIANLIERRQFETKENKRLLEKSQRVEAIIASMQATGAE
  EAQLQEIEEMITAPERQQLETLKRNVNKLDASEIQVDETIFLLESYIECTMKRQ

• Sequence length: 534

Pathways

KEGG:

RNA polymerase
Cytosolic DNA-sensing pathway

Reactome:

Cytosolic sensors of pathogen-associated DNA
RNA Polymerase III Transcription Initiation From Type 1 Promoter
RNA Polymerase III Transcription Initiation From Type 2 Promoter
RNA Polymerase III Transcription Initiation From Type 3 Promoter

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Decreased total lymphocyte count	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Decreased total neutrophil count	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLR3C-related disorder	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis, Gouty	Gouty arthritis	GWASDB_DG	23263486		★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASDB_DG	23263486		★★☆☆☆ Found in Text Mining + Unknown/Other Associations