DIS3 (DIS3 homolog, exosome endoribonuclease and 3-5 exoribonuclease)

2014-01-01  

Identity

HGNC
DIS3
LOCATION
13q21.33
LOCUSID
22894
ALIAS
2810028N01Rik,EXOSC11,KIAA1008,RRP44,dis3p
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 22894
MIM: 607533
HGNC: 20604
Ensembl: ENSG00000083520

Variants:

dbSNP: 22894
ClinVar: 22894
TCGA: ENSG00000083520
COSMIC: DIS3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000083520ENST00000377767Q9Y2L1
ENSG00000083520ENST00000377780Q9Y2L1
ENSG00000083520ENST00000490646F2Z2C0
ENSG00000083520ENST00000545453G3V1J5

Expression (GTEx)

0
5
10
15
20
25
30
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

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
205313862010The human core exosome interacts with differentially localized processive RNases: hDIS3 and hDIS3L.103
124192562002Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring.25
241509352014Multiple myeloma-associated hDIS3 mutations cause perturbations in cellular RNA metabolism and suggest hDIS3 PIN domain as a potential drug target.24
95626211998Human dis3p, which binds to either GTP- or GDP-Ran, complements Saccharomyces cerevisiae dis3.22
95626211998Human dis3p, which binds to either GTP- or GDP-Ran, complements Saccharomyces cerevisiae dis3.22
255211642015The molecular spectrum and clinical impact of DIS3 mutations in multiple myeloma.17
262882492015Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.17
261933312015The 3' to 5' Exoribonuclease DIS3: From Structure and Mechanisms to Biological Functions and Role in Human Disease.15
244780242014Gene-dosage dependent overexpression at the 13q amplicon identifies DIS3 as candidate oncogene in colorectal cancer progression.12
263054182015A compendium of DIS3 mutations and associated transcriptional signatures in plasma cell dyscrasias.12

Citation

Dessen P

DIS3 (DIS3 homolog, exosome endoribonuclease and 3-5 exoribonuclease)

Atlas Genet Cytogenet Oncol Haematol. 2014-01-01

Online version: http://atlasgeneticsoncology.org/gene/53556/gc-dis3