POLR1D (RNA polymerase I and III subunit D)

2019-08-01  

Identity

HGNC
LOCATION
13q12.2
LOCUSID
ALIAS
AC19,POLR1C,RPA16,RPA9,RPAC2,RPC16,RPO1-3,TCS2

Other Information

Locus ID:

NCBI: 51082
MIM: 613715
HGNC: 20422
Ensembl: ENSG00000186184

Variants:

dbSNP: 51082
ClinVar: 51082
TCGA: ENSG00000186184
COSMIC: POLR1D

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186184ENST00000302979P0DPB6
ENSG00000186184ENST00000399696A0A0R4J2F3
ENSG00000186184ENST00000399697P0DPB5
ENSG00000186184ENST00000465887A0A087X0U2
ENSG00000186184ENST00000489647A0A087X0U2
ENSG00000186184ENST00000621089A0A087WTY1
ENSG00000186184ENST00000630983Q7Z776
ENSG00000186184ENST00000636817A0A1B0GUZ5
ENSG00000186184ENST00000637071A0A087WTY1
ENSG00000186184ENST00000637180A0A087WTY1

Expression (GTEx)

0
5
10
15
20
25
30
35

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
RNA polymerase I, eukaryotesKEGGhsa_M00182
Epstein-Barr virus infectionKEGGhsa05169
Epstein-Barr virus infectionKEGGko05169
RNA polymerase III, eukaryotesKEGGM00181
RNA polymerase I, eukaryotesKEGGM00182
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 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
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
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
211319762011Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.79
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.27
257901622016Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.17
246902222014Treacher Collins Syndrome: the genetics of a craniofacial disease.15
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.11
246034352014Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.8
89551281996Mouse RNA polymerase I 16-kDa subunit able to associate with 40-kDa subunit is a homolog of yeast AC19 subunit of RNA polymerases I and III.7
197248952009Association of gene polymorphisms with chronic kidney disease in Japanese individuals.7
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.3

Citation

Dessen P

POLR1D (RNA polymerase I and III subunit D)

Atlas Genet Cytogenet Oncol Haematol. 2019-08-01

Online version: http://atlasgeneticsoncology.org/gene/58044/polr1d