RRP8 (ribosomal RNA processing 8)

2016-10-01  

Identity

HGNC
RRP8
LOCATION
11p15.4
LOCUSID
23378
ALIAS
KIAA0409,NML

Other Information

Locus ID:

NCBI: 23378
MIM: 615818
HGNC: 29030
Ensembl: ENSG00000132275

Variants:

dbSNP: 23378
ClinVar: 23378
TCGA: ENSG00000132275
COSMIC: RRP8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132275ENST00000254605O43159
ENSG00000132275ENST00000530762E9PS87
ENSG00000132275ENST00000533907E9PPY3
ENSG00000132275ENST00000534343E9PPP6

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
Gene ExpressionREACTOMER-HSA-74160
Epigenetic regulation of gene expressionREACTOMER-HSA-212165
Negative epigenetic regulation of rRNA expressionREACTOMER-HSA-5250941
SIRT1 negatively regulates rRNA ExpressionREACTOMER-HSA-427359

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
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
238974262013Regulation of SirT1-nucleomethylin binding by rRNA coordinates ribosome biogenesis with nutrient availability.15
265058142015Nucleolar repression facilitates initiation and maintenance of senescence.13
271499242016NML-mediated rRNA base methylation links ribosomal subunit formation to cell proliferation in a p53-dependent manner.13
260986922015Novel Autoantigens Associated with Lupus Nephritis.4
198192262009The nucleolar protein NML regulates hepatic ATP levels during liver regeneration after partial hepatectomy.0

Citation

Dessen P

RRP8 (ribosomal RNA processing 8)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56563/rrp8