Identity
HGNC
LOCATION
2p11.2
LOCUSID
ALIAS
A190,AFDCIN,RPA1,RPA190,RPA194,RPO1-4,RPO14
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: 25885
MIM: 616404
HGNC: 17264
Ensembl: ENSG00000068654
Variants:
dbSNP: 25885
ClinVar: 25885
TCGA: ENSG00000068654
COSMIC: POLR1A
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000068654 | ENST00000263857 | O95602 |
| ENSG00000068654 | ENST00000409024 | F2Z3I7 |
| ENSG00000068654 | ENST00000409681 | B9ZVN9 |
| ENSG00000068654 | ENST00000424089 | F2Z3I7 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37075751 | 2023 | POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies. | 4 |
| 37167337 | 2023 | Expression of RNA polymerase I catalytic core is influenced by RPA12. | 1 |
| 37075751 | 2023 | POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies. | 4 |
| 37167337 | 2023 | Expression of RNA polymerase I catalytic core is influenced by RPA12. | 1 |
| 28051070 | 2017 | Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A. | 18 |
| 28051070 | 2017 | Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A. | 18 |
| 27589844 | 2016 | The identification of a novel role for BRCA1 in regulating RNA polymerase I transcription. | 14 |
| 27589844 | 2016 | The identification of a novel role for BRCA1 in regulating RNA polymerase I transcription. | 14 |
| 25913037 | 2015 | Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. | 42 |
| 25913037 | 2015 | Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. | 42 |
| 22106380 | 2012 | BLM helicase facilitates RNA polymerase I-mediated ribosomal RNA transcription. | 31 |
| 22586326 | 2012 | Functional proteomics establishes the interaction of SIRT7 with chromatin remodeling complexes and expands its role in regulation of RNA polymerase I transcription. | 84 |
| 22106380 | 2012 | BLM helicase facilitates RNA polymerase I-mediated ribosomal RNA transcription. | 31 |
| 22586326 | 2012 | Functional proteomics establishes the interaction of SIRT7 with chromatin remodeling complexes and expands its role in regulation of RNA polymerase I transcription. | 84 |
| 21878508 | 2011 | Selective inhibition of rRNA transcription downregulates E2F-1: a new p53-independent mechanism linking cell growth to cell proliferation. | 48 |
Citation
Dessen P
POLR1A (RNA polymerase I subunit A)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72047/polr1a-(rna-polymerase-i-subunit-a)
