Identity
HGNC
LOCATION
10q22.3
LOCUSID
ALIAS
ADDH,C160,HLD7,RPC1,RPC155,WDRTS,hRPC155
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 11128
MIM: 614258
HGNC: 30074
Ensembl: ENSG00000148606
Variants:
dbSNP: 11128
ClinVar: 11128
TCGA: ENSG00000148606
COSMIC: POLR3A
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000148606 | ENST00000372371 | O14802 |
| ENSG00000148606 | ENST00000473588 | R4GMX2 |
| ENSG00000148606 | ENST00000616246 | Q7Z755 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38348603 | 2024 | Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A. | 1 |
| 38561452 | 2024 | Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation. | 0 |
| 38348603 | 2024 | Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A. | 1 |
| 38561452 | 2024 | Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation. | 0 |
| 34296356 | 2022 | POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients. | 7 |
| 34773388 | 2022 | Distinguishing severe phenotypes associated with pathogenic variants in POLR3A. | 5 |
| 34296356 | 2022 | POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients. | 7 |
| 34773388 | 2022 | Distinguishing severe phenotypes associated with pathogenic variants in POLR3A. | 5 |
| 33005949 | 2021 | Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. | 19 |
| 33148458 | 2021 | Functional characterization of Polr3a hypomyelinating leukodystrophy mutations in the S. cerevisiae homolog, RPC160. | 6 |
| 33491183 | 2021 | Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia. | 1 |
| 33559318 | 2021 | Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A. | 3 |
| 33626331 | 2021 | RNA polymerase III is required for the repair of DNA double-strand breaks by homologous recombination. | 56 |
| 33005949 | 2021 | Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. | 19 |
| 33148458 | 2021 | Functional characterization of Polr3a hypomyelinating leukodystrophy mutations in the S. cerevisiae homolog, RPC160. | 6 |
Citation
Dessen P
POLR3A (RNA polymerase III subunit A)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56310/polr3a-(rna-polymerase-iii-subunit-a)
