POLR3B

POLR3B
Identifiers
Aliases	POLR3B , C128, HLD8, INMAP, RPC2, polymerase (RNA) III subunit B, RNA polymerase III subunit B, CMT1I
External IDs	OMIM: 614366; MGI: 1917678; HomoloGene: 6981; GeneCards: POLR3B; OMA:POLR3B - orthologs
Gene location (Human) Chr. Chromosome 12 (human) [1] Band 12q23.3 Start 106,357,748 bp [1] End 106,510,198 bp [1]
Gene location (Mouse) Chr. Chromosome 10 (mouse) [2] Band 10|10 C1 Start 84,458,156 bp [2] End 84,563,042 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte endothelial cell gingival epithelium amniotic fluid hair follicle kidney tubule germinal epithelium Epithelium of choroid plexus tibialis anterior muscle gonad Top expressed in tail of embryo genital tubercle lumbar spinal ganglion epiblast hand submandibular gland granulocyte secondary oocyte primitive streak zygote More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity DNA binding nucleotidyltransferase activity ribonucleoside binding metal ion binding RNA polymerase III activity DNA-directed 5'-3' RNA polymerase activity Cellular component cytosol nucleoplasm RNA polymerase III complex nucleus Biological process immune system process transcription, DNA-templated defense response to virus positive regulation of innate immune response positive regulation of interferon-beta production innate immune response transcription by RNA polymerase III positive regulation of type I interferon production Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55703 70428 Ensembl ENSG00000013503 ENSMUSG00000034453 UniProt Q9NW08 P59470 RefSeq (mRNA) NM_018082 NM_001160708 NM_027423 RefSeq (protein) NP_001154180 NP_060552 NP_081699 Location (UCSC) Chr 12: 106.36 – 106.51 Mb Chr 10: 84.46 – 84.56 Mb PubMed search [3] [4]
Wikidata
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RNA polymerase III subunit B is an enzyme which is encoded by the gene POLR3B is a gene that in humans encodes the second largest subunit of RNA polymerase III. ^[5]

Gene

The POLR3B gene is located on the long arm (q) of chromosome 12 on position 23.3, from base pair from base pair 106,357,748 to base pair 106,510,198. ^[6]

Function

RNA polymerase III essential enzyme complex responsible for synthesizing small non-coding RNAs, including transfer RNAs (tRNAs) and 5S ribosomal RNA (rRNA) and these small RNAs play a critical role in the process of protein synthesis within cells. ^[7]

Clinical significance

Mutations in POLR3B are associated with certain genetic disorders, such as hypomyelinating leukodystrophy and Charcot–Marie–Tooth disease type 1I, highlighting its importance in normal nervous system development and function. ^{[7] [8]}

References

1. GRCh38: Ensembl release 89: ENSG00000013503 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000034453 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "POLYMERASE III, RNA, SUBUNIT B; POLR3B". omim.org.
6. "POLR3B RNA polymerase III subunit B [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2025-07-31.
7. "POLR3B gene: MedlinePlus Genetics". MedlinePlus. U.S. National Library of Medicine.
8. Lata E, Choquet K, Sagliocco F, Brais B, Bernard G, Teichmann M (2021). "RNA Polymerase III Subunit Mutations in Genetic Diseases". Frontiers in Molecular Biosciences. 8 696438. doi: 10.3389/fmolb.2021.696438 . PMC   8362101 . PMID   34395528.