POLR3H (RNA polymerase III subunit H)

2014-11-01  

Identity

HGNC
POLR3H
LOCATION
22q13.2
LOCUSID
171568
ALIAS
C25,RPC22.9,RPC8
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 171568
HGNC: 30349
Ensembl: ENSG00000100413

Variants:

dbSNP: 171568
ClinVar: 171568
TCGA: ENSG00000100413
COSMIC: POLR3H

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100413ENST00000337566Q9Y535
ENSG00000100413ENST00000355209Q9Y535
ENSG00000100413ENST00000355209A0A024R1P3
ENSG00000100413ENST00000396504Q9Y535
ENSG00000100413ENST00000396504A0A024R1P3
ENSG00000100413ENST00000407461Q9Y535
ENSG00000100413ENST00000407461A0A024R1P3
ENSG00000100413ENST00000431534F8WDV1
ENSG00000100413ENST00000432789F8WDS5
ENSG00000100413ENST00000442616E7ERZ2

Expression (GTEx)

0
5
10
15
20
25
30
35
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
Cytosolic DNA-sensing pathwayKEGGko04623
Cytosolic DNA-sensing pathwayKEGGhsa04623
Metabolic pathwaysKEGGhsa01100
RNA polymerase III, eukaryotesKEGGhsa_M00181
Epstein-Barr virus infectionKEGGhsa05169
Epstein-Barr virus infectionKEGGko05169
RNA polymerase III, eukaryotesKEGGM00181
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 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

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
308302152019Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency.22
308302152019Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency.22
208433072010Epstein-Barr virus-encoded EBNA1 enhances RNA polymerase III-dependent EBER expression through induction of EBER-associated cellular transcription factors.15
208433072010Epstein-Barr virus-encoded EBNA1 enhances RNA polymerase III-dependent EBER expression through induction of EBER-associated cellular transcription factors.15
192460672009The hepatitis delta virus RNA genome interacts with the human RNA polymerases I and III.20
192460672009The hepatitis delta virus RNA genome interacts with the human RNA polymerases I and III.20

Citation

Dessen P

POLR3H (RNA polymerase III subunit H)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72061/deep-insight-explorer/css/lib/dataTables.bootstrap.min.css