Recombinant Human DNA-directed RNA polymerase III subunit RPC10 (POLR3K)

Function

Core component of RNA polymerase III (Pol III) which synthesizes small non-coding RNAs using the four ribonucleoside triphosphates as substrates (PubMed:20413673, PubMed:30584594, PubMed:33335104, PubMed:33558764, PubMed:33558766, PubMed:33674783, PubMed:34675218). Can mediate Pol I proofreading of the nascent RNA transcript. Anchors into the Pol III active site to constantly monitor transcription fidelity, cleaves mis-incorporated 5'-ribonucleotides and restarts the transcription process. Once Pol III reaches the poly(dT) termination signal, can induce Pol III clamp opening and transcription termination (By similarity) (PubMed:33335104, PubMed:33558764, PubMed:33558766, PubMed:33674783, PubMed:34675218). Pol III plays an important role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as a nuclear and cytosolic DNA sensor involved in innate immune response. Can 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 (PubMed:19609254, PubMed:19631370)

Subcellular Location

Nucleus

Disease Association

Leukodystrophy, hypomyelinating, 21 (HLD21) : An autosomal recessive neurodegenerative disorder characterized by global developmental delay, loss of motor, speech and cognitive milestones in the first decades of life, and diffuse hypomyelination of the white matter and atrophy of the cerebellum and corpus callosum observed on brain imaging. Clinical features include nystagmus, ataxia, dystonia, and spasticity. Other more variable features are feeding difficulties, poor overall growth with microcephaly, optic atrophy, and seizures. The disorder is progressive and may lead to premature death. [The disease is caused by variants affecting the gene represented in this entry]

Subunit

Component of the RNA polymerase III complex consisting of 17 subunits: a ten-subunit horseshoe-shaped catalytic core composed of POLR3A/RPC1, POLR3B/RPC2, POLR1C/RPAC1, POLR1D/RPAC2, POLR3K/RPC10, POLR2E/RPABC1, POLR2F/RPABC2, POLR2H/RPABC3, POLR2K/RPABC4 and POLR2L/RPABC5; a mobile stalk composed of two subunits POLR3H/RPC8 and CRCP/RPC9, protruding from the core and functioning primarily in transcription initiation; and additional subunits homologous to general transcription factors of the RNA polymerase II machinery, POLR3C/RPC3-POLR3F/RPC6-POLR3G/RPC7 heterotrimer required for transcription initiation and POLR3D/RPC4-POLR3E/RPC5 heterodimer involved in both transcription initiation and termination

• Chedin S. et al. The RNA cleavage activity of RNA polymerase III is mediated by an essential TFIIS-like subunit and is important for transcription termination. — Genes Dev. (1998)
• Spakovskii G.V. et al. Molecular identification and characteristics of hRPC11, the smallest specific subunit of human RNA polymerase III. — Bioorg. Khim. (1998)
• Mao Y.M. et al. PubMed: CI-3OLGO3B8R79AO (APR-)
• De Gobbi M. et al. A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. — Science (2006)
• Daniels R.J. et al. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. — Hum. Mol. Genet. (2001)
• Martin J. et al. The sequence and analysis of duplication-rich human chromosome 16. — Nature (2004)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Hu P. et al. Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits. — Mol. Cell. Biol. (2002)