torsin-1A; dystonia 1 protein; torsin family 1 member A (TOR1A, DQ2, DYT1)

Function

• may serve as a molecular chaperone assisting in proper folding of secreted &/or membrane proteins
• interacts with TOR1AIP1 & TOR1AIP2

Structure

• belongs to the clpA/clpB family, torsin subfamily

Compartment

• endoplasmic reticulum (ER) lumen, nuclear envelope
• mainly located in the lumen of the ER
• Glu-303 del variant is lumenally-oriented in discrete large spheroid intracellular structures rather than in ER

Alternative splicing

named isoforms=2

Expression

• widely expressed
• highest levels in kidney & liver
• not detected in spleen
• in brain, high levels found in dopaminergic neurons of the substantia nigra pars compacta, & in the neocortex, hippocampus & cerebellum
• high expression in the spinal cord

Pathology

• defects in TOR1A are the cause of torsion dystonia 1

More general terms

• torsin
• chaperonin; chaperone

Additional terms

• Torsin-1A-interacting protein 1 (TOR1AIP1)
• Torsin-1A-interacting protein 2 (lumenal domain-like LAP1, TOR1AIP2, LULL1)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1861
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1861
• OMIM: https://mirror.omim.org/entry/128100
• OMIM: https://mirror.omim.org/entry/605204
• UniProt: http://www.uniprot.org/uniprot/O14656.html