POLR1A (RNA polymerase I subunit A)

2014-11-01  

Identity

HGNC
POLR1A
LOCATION
2p11.2
LOCUSID
25885
ALIAS
A190,AFDCIN,RPA1,RPA190,RPA194,RPO1-4,RPO14
FUSION GENES
Show Gene Fusions

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
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

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
370757512023POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.4
371673372023Expression of RNA polymerase I catalytic core is influenced by RPA12.1
370757512023POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.4
371673372023Expression of RNA polymerase I catalytic core is influenced by RPA12.1
280510702017Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.18
280510702017Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.18
275898442016The identification of a novel role for BRCA1 in regulating RNA polymerase I transcription.14
275898442016The identification of a novel role for BRCA1 in regulating RNA polymerase I transcription.14
259130372015Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.42
259130372015Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.42
221063802012BLM helicase facilitates RNA polymerase I-mediated ribosomal RNA transcription.31
225863262012Functional proteomics establishes the interaction of SIRT7 with chromatin remodeling complexes and expands its role in regulation of RNA polymerase I transcription.84
221063802012BLM helicase facilitates RNA polymerase I-mediated ribosomal RNA transcription.31
225863262012Functional proteomics establishes the interaction of SIRT7 with chromatin remodeling complexes and expands its role in regulation of RNA polymerase I transcription.84
218785082011Selective inhibition of rRNA transcription downregulates E2F-1: a new p53-independent mechanism linking cell growth to cell proliferation.48

Citation

Dessen P

POLR1A (RNA polymerase I subunit A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72047