Alt. symbols: RPC62 | RPC3 | C82

Approved name: RNA polymerase III subunit C
Alt. names: polymerase (RNA) III (DNA directed) polypeptide C (62kD)

Location: 1q21.1: 145824053 - 145844402 (+)
Gene type: protein_coding, 27 transcripts.

Scores: LoFtool: 0.857000 | pLI: 0.00000866 | LOEUF: 1.030

HGNC: 30076

NCBI: 10623, RefSeq: .0

Ensembl: ENSG00000186141.10

LRG_ | Status: none

OMIM: 617454

Expression | ProteinAtlas

Gene Ontology (GO)

• Molecular function:
• Cell component: RNA polymerase III complex [GO:0005666]
• Biological process:

Normal function

The gene encodes a DNA-dependent RNA polymerase that catalyzes the transcription of DNA into RNA as part of the initiation subcomplex of RNA polymerase III (POL III), which synthesizes small RNAs, such as 5S rRNA and tRNAs. POLR3C may direct, together with other members of the POL III subcomplex, binding to the TFIIIB-DNA complex via the interactions between TFIIIB and POLR3F. It plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses, as it acts as nuclear and cytosolic DNA sensor during the innate immune response. POLR3C can also sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway. POLR3C preferentially binds single-stranded DNA (ssDNA) in a sequence-independent manner.

Dysfunction and disease

To date, only 3 missense variants in POLR3C have been associated with disease in 3 unrelated kindreds with history of severe varicella zoster virus (VZV) infections (PMID: 28783042). One family carried the heterozygous p.Leu11Phe variant; the second carried the p.Arg438Gly variant in POLR3C, together with the variant p.Gln707Arg in POLR3A; and the third carried the p.Arg84Gln variant in POLR3C, together with the variant p.Arg437Gln in POLR3A. [Load More]