POLR1C (RNA polymerase I and III subunit C)

2014-11-01  

Identity

HGNC
LOCATION
6p21.1
LOCUSID
ALIAS
AC40,HLD11,RPA39,RPA40,RPA5,RPAC1,RPC40,TCS3
FUSION GENES

Other Information

Locus ID:

NCBI: 9533
MIM: 610060
HGNC: 20194
Ensembl: ENSG00000171453

Variants:

dbSNP: 9533
ClinVar: 9533
TCGA: ENSG00000171453
COSMIC: POLR1C

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171453ENST00000304004O15160
ENSG00000171453ENST00000372344E7EQB9
ENSG00000171453ENST00000423780H0Y723
ENSG00000171453ENST00000428025D6RDJ3
ENSG00000171453ENST00000607635O15160
ENSG00000171453ENST00000642195O15160
ENSG00000171453ENST00000643341A0A2R8YEZ4
ENSG00000171453ENST00000643799E7EQB9
ENSG00000171453ENST00000645141A0A2R8Y8D6
ENSG00000171453ENST00000646188A0A2R8YEY5
ENSG00000171453ENST00000646433A0A2R8Y5D3
ENSG00000171453ENST00000646700A0A2R8YEZ4

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

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

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
261514092015Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.41
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
313682412019Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.2
295674742018Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation.0

Citation

Dessen P

POLR1C (RNA polymerase I and III subunit C)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72048/polr1c