EXOSC9 (exosome component 9)

2014-11-01 Affiliation

Identity

HGNC

EXOSC9

LOCATION

4q27

LOCUSID

5393

ALIAS

PCH1D,PM/Scl-75,PMSCL1,RRP45,Rrp45p,p5,p6

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000123737	ENST00000243498	Q06265
ENSG00000123737	ENST00000379663	Q06265
ENSG00000123737	ENST00000509800	D6R905
ENSG00000123737	ENST00000511132	H0Y9L5
ENSG00000123737	ENST00000511454	D6RAP4
ENSG00000123737	ENST00000512454	D6RIY6
ENSG00000123737	ENST00000513654	D6RA17

Expression (GTEx)

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

Pathway	Source	External ID
RNA degradation	KEGG	ko03018
RNA degradation	KEGG	hsa03018
Exosome, eukaryotes	KEGG	hsa_M00391
Exosome, eukaryotes	KEGG	M00391
Metabolism of proteins	REACTOME	R-HSA-392499
Unfolded Protein Response (UPR)	REACTOME	R-HSA-381119
PERK regulates gene expression	REACTOME	R-HSA-381042
ATF4 activates genes	REACTOME	R-HSA-380994
Gene Expression	REACTOME	R-HSA-74160
Deadenylation-dependent mRNA decay	REACTOME	R-HSA-429914
mRNA decay by 3' to 5' exoribonuclease	REACTOME	R-HSA-429958
Regulation of mRNA stability by proteins that bind AU-rich elements	REACTOME	R-HSA-450531
Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA	REACTOME	R-HSA-450385
Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA	REACTOME	R-HSA-450513
KSRP (KHSRP) binds and destabilizes mRNA	REACTOME	R-HSA-450604
rRNA processing	REACTOME	R-HSA-72312
Major pathway of rRNA processing in the nucleolus and cytosol	REACTOME	R-HSA-6791226
rRNA processing in the nucleus and cytosol	REACTOME	R-HSA-8868773

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
11782436	2002	The mammalian exosome mediates the efficient degradation of mRNAs that contain AU-rich elements.	146
17545563	2007	Human cell growth requires a functional cytoplasmic exosome, which is involved in various mRNA decay pathways.	37
12419256	2002	Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring.	25
12788944	2003	The association of the human PM/Scl-75 autoantigen with the exosome is dependent on a newly identified N terminus.	9
14872500	2004	PM-Scl-75 is the main autoantigen in patients with the polymyositis/scleroderma overlap syndrome.	9
29727687	2018	Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.	9

Citation

Dessen P

EXOSC9 (exosome component 9)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62955/exosc9