TOR1A

Gene Symbol	TOR1A
Entrez Gene	1861
Alt Symbol	DQ2, DYT1
Species	Human
Gene Type	protein-coding
Description	torsin family 1, member A (torsin A)
Other Description	dystonia 1 protein|dystonia 1, torsion (autosomal dominant; torsin A)|torsin ATPase 1|torsin ATPase-1A|torsin family 1 member A|torsin-1A
Swissprots	B2RB58 O14656 Q53Y64 Q96CA0
Accessions	EAW87907 EAW87908 O14656 AF007871 AAC51732 AK056062 BAG51613 AK075343 AK130769 AK294677 BAG57840 AK314505 BAG37105 AU098588 BC000674 AAH00674 BC014484 AAH14484 BT006931 AAP35577 BU790507 DQ892657 ABM83583 DQ895897 ABM86823 XR_929731 NM_000113 NP_000104
Function	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
Subcellular Location	Endoplasmic reticulum lumen. Nucleus membrane; Peripheral membrane protein. Cell projection, growth cone {ECO:0000250}. Cytoplasmic vesicle membrane {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle. Cytoplasm, cytoskeleton. Note=Upon oxidative stress, redistributes to protusions from the cell surface (By similarity). Peripherally associated with the inner face of the ER membrane, probably mediated by the interaction with TOR1AIP1. The association with nucleus membrane is mediated by the interaction with TOR1AIP2. {ECO:0000250}.
Tissue Specificity	Widely expressed. Highest levels in kidney and liver. 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 highly expressed in the spinal cord. {ECO:0000269|PubMed:10640617, ECO:0000269|PubMed:14970196, ECO:0000269|PubMed:15147511}.

• Antibodies
• Assays/Kits
• Proteins/Peptides
• siRNAs/Functional Genomics
• cDNA Clones
• Cell/Tissue/Blood Products

Human Torsin A full length protein - ab114564 from Abcam Category Protein Source Wheat germ Species Human

Human Torsin A full length protein - ab156747 from Abcam Category Protein Source E. coli Species Human

Human Torsin A full length protein - ab156336 from Abcam Category Protein Source E. coli Species Human

Human Torsin A protein fragment - ab114565 from Abcam Category Protein Source Wheat germ Species Human

Rat Torsin A peptide - ab35510 from Abcam Category Peptide

TOR1A / Torsin A Antibody Blocking Peptide - LS-E5674 from LifeSpan Bioscience Category Peptide Prices $145.00 Sizes 100 µg

TOR1A / Torsin A Antibody Blocking Peptide - LS-E23123 from LifeSpan Bioscience Category Peptide Prices $145.00 Sizes 100 µg

Torsin A Recombinant Protein - H00001861-P01 from Novus Biologicals Category Protein Prices $369.00 Sizes 10 µg Species Human

Recombinant Human Torsin A Protein - NBP2-22872 from Novus Biologicals Category Protein Prices $269.00 Sizes 100 µg Species Human

Torsin A Partial Recombinant Protein - H00001861-Q01 from Novus Biologicals Category Protein Prices $369.00 Sizes 10 µg

TOR1A-Antibody-C-term-Blocking-Peptide - BP18209b from Abgent, a WuXi AppTec company Category Peptide Prices $80.00 Sizes 100 µg

Human TOR1A protein - orb191133 from Biorbyt Category Protein Prices $170.00, $289.00 Sizes 5 μg, 20 μg Species Human

TOR1A protein (His tag) - 80R-2756 from Fitzgerald Category Protein Prices $270.00 Sizes 100 µg Source E.coli

Torsin-1A (TOR1A) (21-332, His-tag) - AR50875PU-N from Acris Antibodies Category Protein Prices $790.00 Sizes 500 µg Source E. coli Species Human

Torsin-1A (TOR1A) (21-332, His-tag) - AR50875PU-S from Acris Antibodies Category Protein Prices $340.00 Sizes 100 µg Source E. coli Species Human

Torsin-1A (TOR1A) - H00001861-P01-10 from Acris Antibodies Category Protein Prices $380.00 Sizes 10 µg Source in vitro transl. Species Human

Torsin-1A (TOR1A) - H00001861-P01-25 from Acris Antibodies Category Protein Prices $500.00 Sizes 25 µg Source in vitro transl. Species Human

Torsin-1A (TOR1A) - H00001861-Q01-10 from Acris Antibodies Category Protein Prices $380.00 Sizes 10 µg Species Human

Torsin-1A (TOR1A) - H00001861-Q01-25 from Acris Antibodies Category Protein Prices $500.00 Sizes 25 µg Species Human

TOR1A, 21-332aa, Human, His tag, E.coli - 01-P2051 from ARP American Research Products Category Protein Prices $179.00, $369.00, $849.00 Sizes 20 µg, 100 µg, 500 µg Species Human

TOR1A fusion protein - Ag0506 from Proteintech Group Category Protein Prices $199.00 Sizes 50 μg Source E. coli -derived, PGEX-4T Species Human

TOR1A fusion protein - Ag0358 from Proteintech Group Category Protein Prices $199.00 Sizes 50 μg Source E. coli -derived, PGEX-4T Species Human

TOR1A fusion protein - Ag21442 from Proteintech Group Category Protein Prices $199.00 Sizes 50 μg Source E. coli -derived, PET30a Species Human

Recombinant Human TOR1A - TOR1A-29827TH from Creative Biomart Category Protein Source Wheat germ

Recombinant Human TOR1A - TOR1A-29828TH from Creative Biomart Category Protein Source Wheat germ

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