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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
Related
TOR1A gene mutation
Torsin-1A-interacting protein 1 (TOR1AIP1)
Torsin-1A-interacting protein 2 (lumenal domain-like LAP1, TOR1AIP2, LULL1)
General
chaperonin; chaperone
torsin
Properties
SIZE: MW = 38 kD
entity length = 332 aa
COMPARTMENT: nuclear membrane
endoplasmic reticulum
MOTIF: ATP-binding site
NAME: ATP-binding site
SITE: 102-109
N-glycosylation site {N143}
N-glycosylation site {N158}
Database Correlations
OMIM correlations
MORBIDMAP 605204
UniProt O14656
Pfam PF06309
Entrez Gene 1861
Kegg hsa:1861
References
- UniProt :accession O14656
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=TOR1A