POLR3A

POLR3A

POLR3A

POLR3A
Identifiers
AliasesPOLR3A, ADDH, HLD7, RPC1, RPC155, hRPC155, polymerase (RNA) III subunit A, RNA polymerase III subunit A, WDRTS, C160
External IDsOMIM: 614258; MGI: 2681836; GeneCards: POLR3A
Enzyme activity
EC #BRENDAExPASyKEGGMetaCyc
2.7.7.6↗↗↗↗
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
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 MbChr 14: 24.5 – 24.54 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000148606 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025280 – 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. ^ "POLR3A Gene - RNA Polymerase III Subunit A".
  6. ^ "Genome Data Viewer - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2025-07-29.
  7. ^ Saitsu H, Osaka H, Sasaki M, Takanashi JI, Hamada K, Yamashita A, et al. (2011-11-11). "Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy". American Journal of Human Genetics. 89 (5): 644–651. doi:10.1016/j.ajhg.2011.10.003. ISSN 0002-9297. PMC 3213392. PMID 22036171.
  8. ^ "POLR3A RNA polymerase III subunit A [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2025-07-29.
  9. ^ "Orphanet: Wiedemann-Rautenstrauch syndrome". www.orpha.net. Retrieved 2025-07-29.
  10. ^ "Orphanet: 4H leukodystrophy". www.orpha.net. Retrieved 2025-07-29.

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