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
271499242016NML-mediated rRNA base methylation links ribosomal subunit formation to cell proliferation in a p53-dependent manner.55
271499242016NML-mediated rRNA base methylation links ribosomal subunit formation to cell proliferation in a p53-dependent manner.55
260986922015Novel Autoantigens Associated with Lupus Nephritis.8
265058142015Nucleolar repression facilitates initiation and maintenance of senescence.22
260986922015Novel Autoantigens Associated with Lupus Nephritis.8
265058142015Nucleolar repression facilitates initiation and maintenance of senescence.22
238974262013Regulation of SirT1-nucleomethylin binding by rRNA coordinates ribosome biogenesis with nutrient availability.22
238974262013Regulation of SirT1-nucleomethylin binding by rRNA coordinates ribosome biogenesis with nutrient availability.22
198192262009The nucleolar protein NML regulates hepatic ATP levels during liver regeneration after partial hepatectomy.0
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-(ribosomal-rna-processing-8)