ID:TOR1A_HUMAN DESCRIPTION: RecName: Full=Torsin-1A; AltName: Full=Dystonia 1 protein; AltName: Full=Torsin family 1 member A; Flags: Precursor; FUNCTION: May serve as a molecular chaperone assisting in the proper folding of secreted and/or membrane proteins. In the nucleus, displaces the nuclear membrane proteins SUN2, SYNE2 and nesprin-3/C14orf49, leaving nuclear pores and SUN1 unchanged. SUBUNIT: May form homohexamers. Interacts with TOR1AIP1 and TOR1AIP2. Interacts with KLHL14, preferentially when ATP-free. SUBCELLULAR LOCATION: Endoplasmic reticulum lumen. Nucleus membrane. Note=Mainly located in the lumen of the endoplasmic reticulum. The association with nuclear envelope is mediated by the interaction with TOR1AIP2. The Glu-303 del variant is lumenally-oriented in discrete large spheroid intracellular structures rather than in the endoplasmic reticulum. TISSUE SPECIFICITY: Widely expressed. Highest levels in kidney and liver. Not detected in spleen. In the brain, high levels found in the dopaminergic neurons of the substantia nigra pars compacta, as well as in the neocortex, hippocampus and cerebellum. Also high expression in the spinal cord. DISEASE: Defects in TOR1A are the cause of dystonia type 1 (DYT1) [MIM:128100]. DYT1 is a primary torsion dystonia, and the most common and severe form. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT1 is characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body, in the absence of other neurological symptoms. Typically, symptoms develop first in an arm or leg in middle to late childhood and progress in approximately 30% of patients to other body regions (generalized dystonia) within about five years. 'Torsion' refers to the twisting nature of body movements observed in DYT1, often affecting the trunk. Distribution and severity of symptoms vary widely between affected individuals, ranging from mild focal dystonia to severe generalized dystonia, even within families. SIMILARITY: Belongs to the clpA/clpB family. Torsin subfamily. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TOR1A";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O14656
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000338 protein deneddylation GO:0006979 response to oxidative stress GO:0006996 organelle organization GO:0006998 nuclear envelope organization GO:0007155 cell adhesion GO:0031175 neuron projection development GO:0034504 protein localization to nucleus GO:0044319 wound healing, spreading of cells GO:0045104 intermediate filament cytoskeleton organization GO:0048489 synaptic vesicle transport GO:0051085 chaperone mediated protein folding requiring cofactor GO:0051260 protein homooligomerization GO:0051584 regulation of dopamine uptake involved in synaptic transmission GO:0061077 chaperone-mediated protein folding GO:0071712 ER-associated misfolded protein catabolic process GO:0071763 nuclear membrane organization GO:0072321 chaperone-mediated protein transport GO:1900244 positive regulation of synaptic vesicle endocytosis GO:2000008 regulation of protein localization to cell surface
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
