POLR3A

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
Enzyme activity
Gene location (Human)
Chr.	Chromosome 10 (human)
End	78,029,515 bp
Gene location (Mouse)
Chr.	Chromosome 14 (mouse)
End	24,537,126 bp
RNA expression pattern
	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
	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
	11128
	218832
	ENSG00000148606
	ENSMUSG00000025280
	O14802
	B2RXC6
	NM_007055
	NM_001081247; NM_183157
	NP_008986
	NP_001074716
	Wikidata
View/Edit Human	View/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 2 3 GRCh38: Ensembl release 89: ENSG00000148606 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025280 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "POLR3A Gene - RNA Polymerase III Subunit A".
↑ "Genome Data Viewer - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2025-07-29.
↑ 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.
↑ "POLR3A RNA polymerase III subunit A [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2025-07-29.
↑ "Orphanet: Wiedemann-Rautenstrauch syndrome". www.orpha.net. Retrieved 2025-07-29.
↑ "Orphanet: 4H leukodystrophy". www.orpha.net. Retrieved 2025-07-29.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000148606 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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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