EXOSC9 (exosome component 9)

2014-11-01  

Identity

HGNC
EXOSC9
LOCATION
4q27
LOCUSID
5393
ALIAS
PCH1D,PM/Scl-75,PMSCL1,RRP45,Rrp45p,p5,p6

Other Information

Locus ID:

NCBI: 5393
MIM: 606180
HGNC: 9137
Ensembl: ENSG00000123737

Variants:

dbSNP: 5393
ClinVar: 5393
TCGA: ENSG00000123737
COSMIC: EXOSC9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123737ENST00000243498Q06265
ENSG00000123737ENST00000379663Q06265
ENSG00000123737ENST00000509800D6R905
ENSG00000123737ENST00000511132H0Y9L5
ENSG00000123737ENST00000511454D6RAP4
ENSG00000123737ENST00000512454D6RIY6
ENSG00000123737ENST00000513654D6RA17

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
378873392023Exosc9 Initiates SUMO-Dependent lncRNA TERRA Degradation to Impact Telomeric Integrity in Endocrine Therapy Insensitive Hormone Receptor-Positive Breast Cancer.1
378873392023Exosc9 Initiates SUMO-Dependent lncRNA TERRA Degradation to Impact Telomeric Integrity in Endocrine Therapy Insensitive Hormone Receptor-Positive Breast Cancer.1
330400832021Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.7
330400832021Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.7
306902032020Expanded PCH1D phenotype linked to EXOSC9 mutation.7
325182842020EXOSC9 depletion attenuates P-body formation, stress resistance, and tumorigenicity of cancer cells.17
306902032020Expanded PCH1D phenotype linked to EXOSC9 mutation.7
325182842020EXOSC9 depletion attenuates P-body formation, stress resistance, and tumorigenicity of cancer cells.17
297276872018Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.37
297276872018Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.37
175455632007Human cell growth requires a functional cytoplasmic exosome, which is involved in various mRNA decay pathways.48
175455632007Human cell growth requires a functional cytoplasmic exosome, which is involved in various mRNA decay pathways.48
148725002004PM-Scl-75 is the main autoantigen in patients with the polymyositis/scleroderma overlap syndrome.14
148725002004PM-Scl-75 is the main autoantigen in patients with the polymyositis/scleroderma overlap syndrome.14
127889442003The association of the human PM/Scl-75 autoantigen with the exosome is dependent on a newly identified N terminus.9

Citation

Dessen P

EXOSC9 (exosome component 9)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62955