TOR1A Human
Torsin Family 1 Member A Human Recombinant
Cat. No.
BT25909
Source
E.coli.
Synonyms
DQ2, DYT1, Torsin-1A, Dystonia 1 protein, Torsin family 1 member A, TOR1A.
Appearance
Sterile Filtered colorless solution.
Purity
Greater than 90% as determined by SDS-PAGE.
Usage
THE BioTek's products are furnished for LABORATORY RESEARCH USE ONLY. The product may not be used as drugs, agricultural or pesticidal products, food additives or household chemicals.
Shipped with Ice Packs 
In Stock 
Description
TOR1A Human Recombinant produced in E. coli is a single polypeptide chain containing 333 amino acids (21-332) and having a molecular mass of 38kDa. TOR1A is fused to a 21 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
Product Specs
Introduction
TOR1A, a member of the AAA+ ATPase family related to the Clp protease/heat shock family, is highly expressed in the substantia nigra pars compacta. It acts as a molecular chaperone, aiding in the proper folding of secreted and/or membrane proteins. Mutations in the TOR1A gene can lead to torsion dystonia type 1, an autosomal dominant disorder.
Description
Recombinant human TOR1A, expressed in E. coli, is a single polypeptide chain of 333 amino acids (residues 21-332) with a molecular weight of 38 kDa. It includes an N-terminal 21 amino acid His-tag and is purified using proprietary chromatographic methods.
Physical Appearance
Clear, colorless, and sterile-filtered solution.
Formulation
The TOR1A solution is provided at a concentration of 1 mg/ml in a buffer consisting of 20 mM Tris-HCl (pH 8.0), 0.4 M urea, and 10% glycerol.
Stability
For short-term storage (2-4 weeks), the solution should be kept at 4°C. For long-term storage, it is recommended to freeze the solution at -20°C. Adding a carrier protein like 0.1% HSA or BSA is advisable for long-term storage. Avoid repeated freezing and thawing cycles.
Purity
The purity is determined to be greater than 90% by SDS-PAGE analysis.
Synonyms
DQ2, DYT1, Torsin-1A, Dystonia 1 protein, Torsin family 1 member A, TOR1A.
Source
E.coli.
Amino Acid Sequence
MGSSHHHHHH SSGLVPRGSH MVEPISLGLA LAGVLTGYIY PRLYCLFAEC CGQKRSLSRE ALQKDLDDNL FGQHLAKKII LNAVFGFINN PKPKKPLTLS LHGWTGTGKN FVSKIIAENI YEGGLNSDYV HLFVATLHFP HASNITLYKD QLQLWIRGNV SACARSIFIF DEMDKMHAGL IDAIKPFLDY YDLVDGVSYQ KAMFIFLSNA GAERITDVAL DFWRSGKQRE DIKLKDIEHA LSVSVFNNKN SGFWHSSLIH RNLIDYFVPF LPLEYKHLKM CIRVEMQSRG YEIDEDIVSR VAEEMTFFPK EERVFSDKGC KTVFTKLDYY YDD.
Product Science Overview
Introduction
Torsin Family 1 Member A (TOR1A), also known as TorsinA, is a protein encoded by the TOR1A gene. This gene is a member of the AAA family of adenosine triphosphatases (ATPases), which are related to the Clp protease/heat shock family . TorsinA is prominently expressed in the substantia nigra pars compacta, a region of the brain involved in movement control .
Genetic and Protein Structure
The TOR1A gene is located on chromosome 9q34.11 and has multiple transcripts (splice variants) . The protein encoded by this gene has several aliases, including DYT1, Torsin-1A, and Dystonia 1 Protein . TorsinA is involved in various cellular processes, including protein folding, processing, stability, and localization .
Biological Functions
TorsinA has several critical functions:
- Chaperone Functions: It plays a role in the control of protein folding and the reduction of misfolded protein aggregates .
- Synaptic Vesicle Recycling: It regulates synaptic vesicle recycling and controls the stability of the STON2 protein in collaboration with the COP9 signalosome complex (CSN) .
- Nuclear Envelope Integrity: In the nucleus, TorsinA may link the cytoskeleton with the nuclear envelope, which is crucial for nuclear polarity, cell movement, and nuclear envelope integrity, especially in neurons .
- Cellular Trafficking: It participates in 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 .
- Quality Control of Protein Folding: In the endoplasmic reticulum, TorsinA plays a role in the quality control of protein folding by increasing the clearance of misfolded proteins or holding them in an intermediate state for proper refolding .
Associated Diseases
Mutations in the TOR1A gene are associated with several disorders, including:
Quick Inquiry
Personal Email Detected
Please use an institutional or corporate email address for inquiries. Personal email accounts ( such as Gmail, Yahoo, and Outlook) are not accepted. *
