POLR1C (RNA polymerase I and III subunit C)

2014-11-01 Affiliation

Identity

HGNC

POLR1C

LOCATION

6p21.1

LOCUSID

9533

ALIAS

AC40,HLD11,RPA39,RPA40,RPA5,RPAC1,RPC40,TCS3

FUSION GENES

Show Gene Fusions

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: 9533
MIM: 610060
HGNC: 20194
Ensembl: ENSG00000171453

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000171453	ENST00000304004	O15160
ENSG00000171453	ENST00000372344	E7EQB9
ENSG00000171453	ENST00000423780	H0Y723
ENSG00000171453	ENST00000428025	D6RDJ3
ENSG00000171453	ENST00000607635	O15160
ENSG00000171453	ENST00000642195	O15160
ENSG00000171453	ENST00000643341	A0A2R8YEZ4
ENSG00000171453	ENST00000643799	E7EQB9
ENSG00000171453	ENST00000645141	A0A2R8Y8D6
ENSG00000171453	ENST00000646188	A0A2R8YEY5
ENSG00000171453	ENST00000646433	A0A2R8Y5D3
ENSG00000171453	ENST00000646700	A0A2R8YEZ4

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Purine metabolism	KEGG	ko00230
Pyrimidine metabolism	KEGG	ko00240
RNA polymerase	KEGG	ko03020
Purine metabolism	KEGG	hsa00230
Pyrimidine metabolism	KEGG	hsa00240
RNA polymerase	KEGG	hsa03020
Cytosolic DNA-sensing pathway	KEGG	ko04623
Cytosolic DNA-sensing pathway	KEGG	hsa04623
Metabolic pathways	KEGG	hsa01100
RNA polymerase III, eukaryotes	KEGG	hsa_M00181
RNA polymerase I, eukaryotes	KEGG	hsa_M00182
Epstein-Barr virus infection	KEGG	hsa05169
Epstein-Barr virus infection	KEGG	ko05169
RNA polymerase III, eukaryotes	KEGG	M00181
RNA polymerase I, eukaryotes	KEGG	M00182
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Cytosolic sensors of pathogen-associated DNA	REACTOME	R-HSA-1834949
Gene Expression	REACTOME	R-HSA-74160
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription	REACTOME	R-HSA-504046
RNA Polymerase I Transcription	REACTOME	R-HSA-73864
RNA Polymerase I Promoter Clearance	REACTOME	R-HSA-73854
RNA Polymerase I Transcription Initiation	REACTOME	R-HSA-73762
RNA Polymerase I Promoter Escape	REACTOME	R-HSA-73772
RNA Polymerase I Chain Elongation	REACTOME	R-HSA-73777
RNA Polymerase I Transcription Termination	REACTOME	R-HSA-73863
RNA Polymerase III Transcription	REACTOME	R-HSA-74158
RNA Polymerase III Abortive And Retractive Initiation	REACTOME	R-HSA-749476
RNA Polymerase III Transcription Initiation	REACTOME	R-HSA-76046
RNA Polymerase III Transcription Initiation From Type 1 Promoter	REACTOME	R-HSA-76061
RNA Polymerase III Transcription Initiation From Type 2 Promoter	REACTOME	R-HSA-76066
RNA Polymerase III Transcription Initiation From Type 3 Promoter	REACTOME	R-HSA-76071
RNA Polymerase III Chain Elongation	REACTOME	R-HSA-73780
RNA Polymerase III Transcription Termination	REACTOME	R-HSA-73980
Epigenetic regulation of gene expression	REACTOME	R-HSA-212165
Negative epigenetic regulation of rRNA expression	REACTOME	R-HSA-5250941
NoRC negatively regulates rRNA expression	REACTOME	R-HSA-427413
Positive epigenetic regulation of rRNA expression	REACTOME	R-HSA-5250913
B-WICH complex positively regulates rRNA expression	REACTOME	R-HSA-5250924

References

Pubmed ID	Year	Title	Citations
33005949	2021	Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.	19
33804237	2021	Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia.	2
33005949	2021	Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.	19
33804237	2021	Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia.	2
30957429	2019	Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.	11
31368241	2019	Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.	7
30957429	2019	Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.	11
31368241	2019	Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.	7
29567474	2018	Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation.	1
29567474	2018	Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation.	1
25790162	2016	Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.	50
25790162	2016	Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.	50
26151409	2015	Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.	92
26151409	2015	Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.	92
24690222	2014	Treacher Collins Syndrome: the genetics of a craniofacial disease.	23

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