POLR1A (RNA polymerase I subunit A)

2014-11-01  

Identity

HGNC
LOCATION
2p11.2
LOCUSID
ALIAS
A190,AFDCIN,RPA1,RPA190,RPA194,RPO1-4,RPO14
FUSION GENES

Other Information

Locus ID:

NCBI: 25885
MIM: 616404
HGNC: 17264
Ensembl: ENSG00000068654

Variants:

dbSNP: 25885
ClinVar: 25885
TCGA: ENSG00000068654
COSMIC: POLR1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000068654ENST00000263857O95602
ENSG00000068654ENST00000409024F2Z3I7
ENSG00000068654ENST00000409681B9ZVN9
ENSG00000068654ENST00000424089F2Z3I7

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Pyrimidine metabolismKEGGko00240
RNA polymeraseKEGGko03020
Purine metabolismKEGGhsa00230
Pyrimidine metabolismKEGGhsa00240
RNA polymeraseKEGGhsa03020
Metabolic pathwaysKEGGhsa01100
RNA polymerase I, eukaryotesKEGGhsa_M00182
RNA polymerase I, eukaryotesKEGGM00182
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase I, RNA Polymerase III, and Mitochondrial TranscriptionREACTOMER-HSA-504046
RNA Polymerase I TranscriptionREACTOMER-HSA-73864
RNA Polymerase I Promoter ClearanceREACTOMER-HSA-73854
RNA Polymerase I Transcription InitiationREACTOMER-HSA-73762
RNA Polymerase I Promoter EscapeREACTOMER-HSA-73772
RNA Polymerase I Chain ElongationREACTOMER-HSA-73777
RNA Polymerase I Transcription TerminationREACTOMER-HSA-73863
Epigenetic regulation of gene expressionREACTOMER-HSA-212165
Negative epigenetic regulation of rRNA expressionREACTOMER-HSA-5250941
NoRC negatively regulates rRNA expressionREACTOMER-HSA-427413
Positive epigenetic regulation of rRNA expressionREACTOMER-HSA-5250913
B-WICH complex positively regulates rRNA expressionREACTOMER-HSA-5250924

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
124469112002A kinetic framework for a mammalian RNA polymerase in vivo.153
225863262012Functional proteomics establishes the interaction of SIRT7 with chromatin remodeling complexes and expands its role in regulation of RNA polymerase I transcription.68
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
218785082011Selective inhibition of rRNA transcription downregulates E2F-1: a new p53-independent mechanism linking cell growth to cell proliferation.35
221063802012BLM helicase facilitates RNA polymerase I-mediated ribosomal RNA transcription.25
259130372015Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.18
280510702017Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.8
275898442016The identification of a novel role for BRCA1 in regulating RNA polymerase I transcription.5

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