======= ATXN3 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ATXN3
  * **<color #00a2e8>Official Name</color>**: ataxin 3
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=4287|4287]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P54252|P54252]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ATXN3&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ATXN3|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607047|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Josephin|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|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|
|protein modification by small protein removal|
|proteasome-mediated ubiquitin-dependent protein catabolic process|
|proteasomal protein catabolic process|
|positive regulation of proteolysis|
|positive regulation of cellular catabolic process|
|mitochondrial matrix|
|regulation of protein catabolic process|
|chemical synaptic transmission|
|anterograde trans-synaptic signaling|
|positive regulation of catabolic process|
|trans-synaptic signaling|
|synaptic signaling|
|microtubule cytoskeleton organization|
|actin cytoskeleton organization|
|DNA repair|
|ubiquitin-dependent protein catabolic process|
|modification-dependent protein catabolic process|
|modification-dependent macromolecule catabolic process|
|actin filament-based process|
|proteolysis involved in cellular protein catabolic process|
|cellular protein catabolic process|
|microtubule-based process|
|regulation of cell adhesion|
|protein catabolic process|
|regulation of proteolysis|
|regulation of cellular response to stress|
|DNA metabolic process|
|cellular response to DNA damage stimulus|
|regulation of cellular catabolic process|
|nucleolus|
|cellular macromolecule catabolic process|
|endoplasmic reticulum membrane|
|protein modification by small protein conjugation or removal|
|regulation of catabolic process|
|response to organonitrogen compound|
|macromolecule catabolic process|
|organonitrogen compound catabolic process|
|response to nitrogen compound|
|cytoskeleton organization|
|cell-cell signaling|
|response to abiotic stimulus|
|proteolysis|
|regulation of response to stress|
|positive regulation of cellular protein metabolic process|
|cellular response to stress|
|positive regulation of protein metabolic process|
|organic substance catabolic process|
|cellular catabolic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp280|Daidzin 10μM R06 exp280]]|-1.85|
|[[:results:exp430|Rifampicin 30μM R08 exp430]]|-1.8|
|[[:results:exp21|MLN-4924 0.2μM R00 exp21]]|1.71|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='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|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 15712
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 7.37 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ATXN3 Expression in NALM6 Cells: 7.37'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>