POLR3A

RNA polymerase III subunit A is an enzyme which is encoded by the gene POLR3A.^[5]

POLR3A
Identifiers
Aliases	POLR3A, ADDH, HLD7, RPC1, RPC155, hRPC155, polymerase (RNA) III subunit A, RNA polymerase III subunit A, WDRTS, C160
External IDs	OMIM: 614258; MGI: 2681836; HomoloGene: 5124; GeneCards: POLR3A; OMA:POLR3A - orthologs
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q22.3 Start 77,975,149 bp[1] End 78,029,515 bp[1]
Gene location (Mouse) Chr. Chromosome 14 (mouse)[2] Band 14|14 A3 Start 24,498,764 bp[2] End 24,537,126 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell middle temporal gyrus secondary oocyte tibialis anterior muscle Brodmann area 23 endothelial cell skin of arm superior frontal gyrus postcentral gyrus testicle Top expressed in primary oocyte Rostral migratory stream internal carotid artery external carotid artery motor neuron Paneth cell zygote substantia nigra secondary oocyte tail of embryo More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity DNA binding nucleotidyltransferase activity chromatin binding metal ion binding RNA polymerase III activity DNA-directed 5'-3' RNA polymerase activity Cellular component cytosol membrane nucleoplasm RNA polymerase III complex nucleus Biological process positive regulation of protein targeting to mitochondrion immune system process transcription, DNA-templated regulation of autophagy of mitochondrion defense response to virus positive regulation of type I interferon production positive regulation of interferon-beta production transcription by RNA polymerase III innate immune response Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 11128 218832 Ensembl ENSG00000148606 ENSMUSG00000025280 UniProt O14802 B2RXC6 RefSeq (mRNA) NM_007055 NM_001081247 NM_183157 RefSeq (protein) NP_008986 NP_001074716 Location (UCSC) Chr 10: 77.98 – 78.03 Mb Chr 14: 24.5 – 24.54 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Gene

The POLR3A gene is located on the long arm (q) of chromosome 10 on position 22.3, from base pair from base pair 77,975,149 to base pair 78,029,515.^[6]

Function

RNA polymerase III subunit A (this gene) along with subunit B (POLR3B) forms the catalytic core of RNA polymerase III. Together, these two subunits create the active center of the enzyme where RNA synthesis occurs.^[7]

RNA polymerase III subunit A also detects foreign DNA and triggers an innate immune response.^[8]

Clinical significance

Wiedemann–Rautenstrauch syndrome

Wiedemann–Rautenstrauch syndrome is a rare genetic disorder, which is characterised by prenatal and postnatal growth restriction, lipodystrophy, sparse hair, relatively large head, and a peculiar face. Intellectual disability is also common.^[9]

4H leukodystrophy

4H leukodystrophy is a rare genetic disorder, which is characterised by hypogonadotropic hypogonadism, dental abnormalities, and hypomyelination.^[10]