Property Summary

NCBI Gene PubMed Count 32
Grant Count 107
R01 Count 61
Funding $15,491,936.71
PubMed Score 12.79
PubTator Score 20.57

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
hepatocellular carcinoma 1.600 0.000
pancreatic cancer 1.400 0.011
astrocytic glioma -1.100 0.047
osteosarcoma 1.923 0.000
tuberculosis and treatment for 6 months -1.900 0.000
non-small cell lung cancer 1.024 0.000
group 3 medulloblastoma 1.600 0.001
pancreatic carcinoma 1.400 0.011
ovarian cancer 1.400 0.001

Synonym

Accession Q9NQT5 A8K0K6 Q5QP85 Q9Y3A8
Symbols p10
PCH1B
RRP40
Rrp40p
CGI-102
hRrp-40
bA3J10.7

Gene

PDB

2NN6  

Gene RIF (7)

PMID Text
25149867 EXOSC3 mutations were linked to complicated hereditary spastic paraplegia.
24524299 study identified new nonsense and missense mutations in the EXOSC3 gene and showed mutations in this gene are exclusively found in pontocerebellar hypoplasia type 1 patients; there are evident genotype-phenotype correlations in EXOSC3-mediated PCH reflected in clinical outcome, age of death and pons hypoplasia
23975261 The present study indicates that EXOSC3 mutations can underlie clinical phenotype not classifiable as pontocerebellar hypoplasia type 1.
23883322 The same mutation c.92G-->C, p.G31A in EXOSC3 was found in three unrelated Czech Roma patients with Pontocerebellar hypoplasia type 1
23564332 We identified a homozygous mutation [c.395A > C/p.D132A] in EXOSC3 in four patients with muscle hypotonia, developmental delay, spinal anterior horn involvement, and prolonged survival, consistent with the "mild PCH1 phenotype".
18187620 Knockdown of exosome component 3 (EXOSC3) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells
12419256 Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring.

AA Sequence

MAEPASVAAESLAGSRARAARTVLGQVVLPGEELLLPEQEDAEGPGGAVERPLSLNARACSRVRVVCGPG      1 - 70
LRRCGDRLLVTKCGRLRHKEPGSGSGGGVYWVDSQQKRYVPVKGDHVIGIVTAKSGDIFKVDVGGSEPAS     71 - 140
LSYLSFEGATKRNRPNVQVGDLIYGQFVVANKDMEPEMVCIDSCGRANGMGVIGQDGLLFKVTLGLIRKL    141 - 210
LAPDCEIIQEVGKLYPLEIVFGMNGRIWVKAKTIQQTLILANILEACEHMTSDQRKQIFSRLAES         211 - 275
//

Text Mined References (42)

PMID Year Title
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
25841024 2015 GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.
25149867 2014 Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.
24524299 2014 EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
23975261 2013 Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.
23883322 2013 Homozygous EXOSC3 mutation c.92G?C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma.
23756462 2013 Exonuclease hDIS3L2 specifies an exosome-independent 3'-5' degradation pathway of human cytoplasmic mRNA.
23564332 2013 EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
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