POLR3A (RNA polymerase III subunit A)

2016-10-01  

Identity

HGNC
LOCATION
10q22.3
LOCUSID
ALIAS
ADDH,C160,HLD7,RPC1,RPC155,WDRTS,hRPC155
FUSION GENES

Other Information

Locus ID:

NCBI: 11128
MIM: 614258
HGNC: 30074
Ensembl: ENSG00000148606

Variants:

dbSNP: 11128
ClinVar: 11128
TCGA: ENSG00000148606
COSMIC: POLR3A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000148606ENST00000372371O14802
ENSG00000148606ENST00000473588R4GMX2
ENSG00000148606ENST00000616246Q7Z755

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Pyrimidine metabolismKEGGko00240
RNA polymeraseKEGGko03020
Purine metabolismKEGGhsa00230
Pyrimidine metabolismKEGGhsa00240
RNA polymeraseKEGGhsa03020
Cytosolic DNA-sensing pathwayKEGGko04623
Cytosolic DNA-sensing pathwayKEGGhsa04623
Metabolic pathwaysKEGGhsa01100
RNA polymerase III, eukaryotesKEGGhsa_M00181
Epstein-Barr virus infectionKEGGhsa05169
Epstein-Barr virus infectionKEGGko05169
RNA polymerase III, eukaryotesKEGGM00181
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Cytosolic sensors of pathogen-associated DNAREACTOMER-HSA-1834949
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase I, RNA Polymerase III, and Mitochondrial TranscriptionREACTOMER-HSA-504046
RNA Polymerase III TranscriptionREACTOMER-HSA-74158
RNA Polymerase III Abortive And Retractive InitiationREACTOMER-HSA-749476
RNA Polymerase III Transcription InitiationREACTOMER-HSA-76046
RNA Polymerase III Transcription Initiation From Type 1 PromoterREACTOMER-HSA-76061
RNA Polymerase III Transcription Initiation From Type 2 PromoterREACTOMER-HSA-76066
RNA Polymerase III Transcription Initiation From Type 3 PromoterREACTOMER-HSA-76071
RNA Polymerase III Chain ElongationREACTOMER-HSA-73780
RNA Polymerase III Transcription TerminationREACTOMER-HSA-73980

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
218558412011Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.62
220361712011Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.46
253392102014Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.46
221891672011Prevalence, correlates and clinical usefulness of antibodies to RNA polymerase III in systemic sclerosis: a cross-sectional analysis of data from an Australian cohort.32
233557462013Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.31
287830422017Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections.28
270688032016RNA Polymerase III Advances: Structural and tRNA Functional Views.21
279117192016Transcription by RNA polymerase III: insights into mechanism and regulation.19

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