EXOSC3 (exosome component 3)

2014-11-01  

Identity

HGNC
EXOSC3
LOCATION
9p13.2
LOCUSID
51010
ALIAS
CGI-102,PCH1B,RRP40,Rrp40p,bA3J10.7,hRrp-40,p10

Other Information

Locus ID:

NCBI: 51010
MIM: 606489
HGNC: 17944
Ensembl: ENSG00000107371

Variants:

dbSNP: 51010
ClinVar: 51010
TCGA: ENSG00000107371
COSMIC: EXOSC3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107371ENST00000327304Q9NQT5
ENSG00000107371ENST00000396521Q9NQT5
ENSG00000107371ENST00000465229Q9NQT5

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
RNA degradationKEGGko03018
RNA degradationKEGGhsa03018
Exosome, eukaryotesKEGGhsa_M00391
Exosome, eukaryotesKEGGM00391
Metabolism of proteinsREACTOMER-HSA-392499
Unfolded Protein Response (UPR)REACTOMER-HSA-381119
PERK regulates gene expressionREACTOMER-HSA-381042
ATF4 activates genesREACTOMER-HSA-380994
Gene ExpressionREACTOMER-HSA-74160
Deadenylation-dependent mRNA decayREACTOMER-HSA-429914
mRNA decay by 3' to 5' exoribonucleaseREACTOMER-HSA-429958
Regulation of mRNA stability by proteins that bind AU-rich elementsREACTOMER-HSA-450531
Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNAREACTOMER-HSA-450385
Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNAREACTOMER-HSA-450513
KSRP (KHSRP) binds and destabilizes mRNAREACTOMER-HSA-450604
rRNA processingREACTOMER-HSA-72312
Major pathway of rRNA processing in the nucleolus and cytosolREACTOMER-HSA-6791226
rRNA processing in the nucleus and cytosolREACTOMER-HSA-8868773

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
245242992014EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.26
124192562002Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring.25
238833222013Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma.15
239752612013Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.14
251498672014Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.13
271931682016Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.12
235643322013EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.10
280532712017Mutations of EXOSC3/Rrp40p associated with neurological diseases impact ribosomal RNA processing functions of the exosome in S. cerevisiae.10
286875122017Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia.5

Citation

Dessen P

EXOSC3 (exosome component 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62951/exosc3