Tbio TOR1A Torsin-1A

Protein Summary

Description

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. 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]

Uniprot Accession IDs

• O14656
• B2RB58
• Q53Y64
• Q96CA0

Gene Name

• TOR1A

Ensembl ID

• ENST00000351698
• ENSP00000345719
• ENSG00000136827

Symbol

• DQ2
• DYT1
• TA
• TORA
• DQ2
• DYT1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
molecular function	0.96
biological term	0.87
cellular component	0.87
biological process	0.85
kinase perturbation	0.71

Protein Classes

PANTHER Classes

Protein / Chaperone / Torsin-1a

DTO Classes

Protein / Chaperone / Torsin-1a

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 2214.72   (req: < 5)

Gene RIFs: 154   (req: <= 3)

Antibodies: 247   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 2214.72   (req: >= 5)

Gene RIFs: 154   (req: > 3)

Antibodies: 247   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 25

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0