EXOSC1 (exosome component 1)

2017-04-01  

Identity

HGNC
EXOSC1
LOCATION
10q24.1
LOCUSID
51013
ALIAS
CGI-108,CSL4,Csl4p,PCH1F,SKI4,Ski4p,p13
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51013
MIM: 606493
HGNC: 17286
Ensembl: ENSG00000171311

Variants:

dbSNP: 51013
ClinVar: 51013
TCGA: ENSG00000171311
COSMIC: EXOSC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171311ENST00000370884B1AMU7
ENSG00000171311ENST00000370885B1AMU3
ENSG00000171311ENST00000370886B1AMU4
ENSG00000171311ENST00000370902Q9Y3B2
ENSG00000171311ENST00000477692R4GMQ7
ENSG00000171311ENST00000485122R4GNH9

Expression (GTEx)

0
10
20
30
40
50
60
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, archaeaKEGGhsa_M00390
Exosome, eukaryotesKEGGhsa_M00391
Exosome, archaeaKEGGM00390
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
334637202021Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.10
334637202021Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.10
331197692020Post-transcriptional control of cellular differentiation by the RNA exosome complex.14
331197692020Post-transcriptional control of cellular differentiation by the RNA exosome complex.14
281446842017Combined p16 and p53 expression in cervical cancer of unknown primary and other prognostic parameters : A single-center analysis.2
281446842017Combined p16 and p53 expression in cervical cancer of unknown primary and other prognostic parameters : A single-center analysis.2
220688372011Yeast RNA viruses as indicators of exosome activity: human exosome hCsl4p participates in RNA degradation in Saccharomyces cerevisiae'.4
220688372011Yeast RNA viruses as indicators of exosome activity: human exosome hCsl4p participates in RNA degradation in Saccharomyces cerevisiae'.4
118121492002Protein-protein interactions of hCsl4p with other human exosome subunits.10
124192562002Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring.28
118121492002Protein-protein interactions of hCsl4p with other human exosome subunits.10
124192562002Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring.28

Citation

Dessen P

EXOSC1 (exosome component 1)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56840