ATXN3

Gene Information

Official Symbol: ATXN3
Official Name: ataxin 3
Aliases and Previous Symbols: N/A
Entrez ID: 4287
UniProt: P54252
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez Summary: Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016].
UniProt Summary: N/A

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Essentiality in NALM6

Essentiality Rank: 15712
Expression level (log2 read counts): 7.37

Expression Distribution

Screen	Score
Daidzin 10μM R06 exp280	-1.85
Rifampicin 30μM R08 exp430	-1.8
MLN-4924 0.2μM R00 exp21	1.71

protein localization to cytosolic proteasome complex involved in ERAD pathway
protein localization to cytosolic proteasome complex
monoubiquitinated protein deubiquitination
Lys63-specific deubiquitinase activity
nuclear inclusion body
positive regulation of ERAD pathway
Lys48-specific deubiquitinase activity
cellular response to misfolded protein
response to misfolded protein
protein quality control for misfolded or incompletely synthesized proteins
regulation of ERAD pathway
protein K63-linked deubiquitination
protein K48-linked deubiquitination
positive regulation of response to endoplasmic reticulum stress
intermediate filament cytoskeleton organization
intermediate filament-based process
thiol-dependent ubiquitinyl hydrolase activity
cellular response to heat
ATPase binding
regulation of response to endoplasmic reticulum stress
ERAD pathway
mitochondrial membrane
positive regulation of proteasomal protein catabolic process
thiol-dependent ubiquitin-specific protease activity
nuclear matrix
response to heat
nucleotide-excision repair
positive regulation of proteolysis involved in cellular protein catabolic process
positive regulation of cellular protein catabolic process
cellular response to topologically incorrect protein
response to temperature stimulus
regulation of proteasomal protein catabolic process
response to topologically incorrect protein
regulation of cell-substrate adhesion
positive regulation of protein catabolic process
regulation of proteolysis involved in cellular protein catabolic process
regulation of cellular protein catabolic process
response to endoplasmic reticulum stress
protein deubiquitination
ubiquitin protein ligase binding