======= TOR1A =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: TOR1A
  * **<color #00a2e8>Official Name</color>**: torsin family 1 member A
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1861|1861]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O14656|O14656]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=TOR1A&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20TOR1A|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/605204|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Protein with chaperone functions important for the control of protein folding, processing, stability and localization as well as for the reduction of misfolded protein aggregates. Involved in the regulation of synaptic vesicle recycling, controls STON2 protein stability in collaboration with the COP9 signalosome complex (CSN). In the nucleus, may link the cytoskeleton with the nuclear envelope, this mechanism seems to be crucial for the control of nuclear polarity, cell movement and, specifically in neurons, nuclear envelope integrity. Participates in the cellular trafficking and may regulate the subcellular location of multipass membrane proteins such as the dopamine transporter SLC6A3, leading to the modulation of dopamine neurotransmission. In the endoplasmic reticulum, plays a role in the quality control of protein folding by increasing clearance of misfolded proteins such as SGCE variants or holding them in an intermediate state for proper refolding. May have a redundant function with TOR1B in non- neural tissues. {ECO:0000269|PubMed:15505207, ECO:0000269|PubMed:16361107, ECO:0000269|PubMed:17428918, ECO:0000269|PubMed:18167355, ECO:0000269|PubMed:18827015, ECO:0000269|PubMed:19339278, ECO:0000269|PubMed:20169475, ECO:0000269|PubMed:23569223}.

<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'>
|Torsin|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|positive regulation of synaptic vesicle endocytosis|
|extrinsic component of endoplasmic reticulum membrane|
|nuclear membrane organization|
|regulation of dopamine uptake involved in synaptic transmission|
|regulation of catecholamine uptake involved in synaptic transmission|
|positive regulation of synaptic vesicle recycling|
|protein deneddylation|
|chaperone-mediated protein transport|
|ER-associated misfolded protein catabolic process|
|regulation of synaptic vesicle endocytosis|
|regulation of synaptic transmission, dopaminergic|
|regulation of neurotransmitter uptake|
|cellular response to misfolded protein|
|regulation of synaptic vesicle recycling|
|wound healing, spreading of cells|
|epiboly involved in wound healing|
|response to misfolded protein|
|epiboly|
|misfolded protein binding|
|protein quality control for misfolded or incompletely synthesized proteins|
|chaperone cofactor-dependent protein refolding|
|synaptic vesicle transport|
|de novo posttranslational protein folding|
|regulation of protein localization to cell surface|
|synaptic vesicle localization|
|de novo protein folding|
|kinesin binding|
|intermediate filament cytoskeleton organization|
|morphogenesis of an epithelial sheet|
|intermediate filament-based process|
|nuclear envelope organization|
|chaperone-mediated protein folding|
|cytoskeletal protein binding|
|secretory granule|
|ERAD pathway|
|regulation of amine transport|
|regulation of response to drug|
|positive regulation of endocytosis|
|regulation of synaptic vesicle cycle|
|synaptic vesicle|
|growth cone|
|unfolded protein binding|
|nucleus organization|
|cytoplasmic vesicle membrane|
|regulation of neurotransmitter transport|
|cellular response to topologically incorrect protein|
|protein localization to nucleus|
|establishment of vesicle localization|
|nuclear envelope|
|vesicle localization|
|response to topologically incorrect protein|
|regulation of endocytosis|
|protein folding|
|ATPase activity|
|nuclear membrane|
|response to endoplasmic reticulum stress|
|protein modification by small protein removal|
|endoplasmic reticulum lumen|
|protein homooligomerization|
|proteasomal protein catabolic process|
|regulation of neurotransmitter levels|
|establishment of organelle localization|
|cytoskeleton|
|response to oxidative stress|
|endomembrane system organization|
|morphogenesis of an epithelium|
|modulation of chemical synaptic transmission|
|regulation of trans-synaptic signaling|
|wound healing|
|protein complex oligomerization|
|regulation of cellular protein localization|
|cell junction|
|regulation of vesicle-mediated transport|
|tissue morphogenesis|
|response to wounding|
|organelle localization|
|proteolysis involved in cellular protein catabolic process|
|cellular protein catabolic process|
|neuron projection development|
|protein catabolic process|
|intracellular membrane-bounded organelle|
|regulation of ion transport|
|protein localization to organelle|
|neuron development|
|membrane organization|
|cellular macromolecule catabolic process|
|regulation of cellular localization|
|cell adhesion|
|biological adhesion|
|cell migration|
|protein modification by small protein conjugation or removal|
|positive regulation of transport|
|response to organonitrogen compound|
|neuron differentiation|
|endoplasmic reticulum|
|regulation of protein localization|
|macromolecule catabolic process|
|organonitrogen compound catabolic process|
|localization of cell|
|cell motility|
|response to nitrogen compound|
|cytoskeleton organization|
|epithelium development|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|positive regulation of cellular component organization|
|proteolysis|
|locomotion|
|ATP binding|
|protein transport|
|generation of neurons|
|peptide transport|
|movement of cell or subcellular component|
|protein-containing complex assembly|
|amide transport|
|cellular protein localization|
|cellular macromolecule localization|
|establishment of protein localization|
|neurogenesis|
|cell development|
|cellular response to stress|
|tissue development|
|organic substance catabolic process|
|cellular catabolic process|
|establishment of localization in cell|
|nitrogen compound transport|
|protein-containing complex subunit organization|
|regulation of transport|
|membrane|
</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:exp227|Cryptotanshinone 12μM R05 exp227]]|-1.8|
|[[:results:exp190|Vincristine 0.0005μM R04 exp190]]|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>**: 12454
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.93 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='TOR1A Expression in NALM6 Cells: 5.93'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>