POLRMT (RNA polymerase mitochondrial)

2016-03-01  

Identity

HGNC
POLRMT
LOCATION
19p13.3
LOCUSID
5442
ALIAS
APOLMT,MTRNAP,MTRPOL,h-mtRPOL
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5442
MIM: 601778
HGNC: 9200
Ensembl: ENSG00000099821

Variants:

dbSNP: 5442
ClinVar: 5442
TCGA: ENSG00000099821
COSMIC: POLRMT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000099821ENST00000588649O00411
ENSG00000099821ENST00000590336K7ESD1
ENSG00000099821ENST00000590573K7EMH3
ENSG00000099821ENST00000592863R4GN79

Expression (GTEx)

0
50
100
150
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
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Mitochondrial biogenesisREACTOMER-HSA-1592230
Transcriptional activation of mitochondrial biogenesisREACTOMER-HSA-2151201
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase I, RNA Polymerase III, and Mitochondrial TranscriptionREACTOMER-HSA-504046
Transcription from mitochondrial promotersREACTOMER-HSA-75944
Mitochondrial transcription initiationREACTOMER-HSA-163282

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
219470092011Structure of human mitochondrial RNA polymerase.77
201290562010Mitochondrial RNA polymerase is needed for activation of the origin of light-strand DNA replication.68
155260332004The mitochondrial RNA polymerase contributes critically to promoter specificity in mammalian cells.64
152585722004Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia.62
173374452007Human mitochondrial ribosomal protein MRPL12 interacts directly with mitochondrial RNA polymerase to modulate mitochondrial gene expression.48
240963652013Structure of human mitochondrial RNA polymerase elongation complex.28
160798532005Transcription of mammalian messenger RNAs by a nuclear RNA polymerase of mitochondrial origin.22
243937722014A novel intermediate in transcription initiation by human mitochondrial RNA polymerase.22
233037732013Transcription-independent role for human mitochondrial RNA polymerase in mitochondrial ribosome biogenesis.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17

Citation

Dessen P

POLRMT (RNA polymerase mitochondrial)

Atlas Genet Cytogenet Oncol Haematol. 2016-03-01

Online version: http://atlasgeneticsoncology.org/gene/55684/polrmt