Recombinant Human Torsin A/DYT1 protein is a Human Full Length protein, in the 21 to 332 aa range, expressed in Escherichia coli, with >90% purity and suitable for SDS-PAGE.
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Key facts
- Purity
- >90% SDS-PAGE
- Expression system
- Escherichia coli
- Tags
- His tag N-Terminus
- Applications
- SDS-PAGE
- Biologically active
- No
Amino acid sequence
M G S S H H H H H H S S G L V P R G S H M V E P I S L G L A L A G V L T G Y I Y P R L Y C L F A E C C G Q K R S L S R E A L Q K D L D D N L F G Q H L A K K I I L N A V F G F I N N P K P K K P L T L S L H G W T G T G K N F V S K I I A E N I Y E G G L N S D Y V H L F V A T L H F P H A S N I T L Y K D Q L Q L W I R G N V S A C A R S I F I F D E M D K M H A G L I D A I K P F L D Y Y D L V D G V S Y Q K A M F I F L S N A G A E R I T D V A L D F W R S G K Q R E D I K L K D I E H A L S V S V F N N K N S G F W H S S L I H R N L I D Y F V P F L P L E Y K H L K M C I R V E M Q S R G Y E I D E D I V S R V A E E M T F F P K E E R V F S D K G C K T V F T K L D Y Y Y D D
Reactivity data
| Application | Reactivity | Dilution info | Notes |
|---|---|---|---|
Application SDS-PAGE | Reactivity Reacts | Dilution info - | Notes - |
Target data
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 with TOR1B in non-neural tissues.
Alternative names
DQ2, DYT1, TA, TORA, TOR1A, Torsin-1A, Dystonia 1 protein, Torsin ATPase-1A, Torsin family 1 member A
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Recombinant Human Torsin A/DYT1 protein is a Human Full Length protein, in the 21 to 332 aa range, expressed in Escherichia coli, with >90% purity and suitable for SDS-PAGE.
Key facts
- Purity
- >90% SDS-PAGE
- Expression system
- Escherichia coli
- Tags
- His tag N-Terminus
- Applications
- SDS-PAGE
- Biologically active
- No
- Accession
- O14656-1
- Animal free
- No
- Species
- Human
- Concentration
- Storage buffer
pH: 8
Constituents: 10% Glycerol (glycerin, glycerine), 2.4% Urea, 0.32% Tris HCl
Sequence info
Amino acid sequence
- M G S S H H H H H H S S G L V P R G S H M V E P I S L G L A L A G V L T G Y I Y P R L Y C L F A E C C G Q K R S L S R E A L Q K D L D D N L F G Q H L A K K I I L N A V F G F I N N P K P K K P L T L S L H G W T G T G K N F V S K I I A E N I Y E G G L N S D Y V H L F V A T L H F P H A S N I T L Y K D Q L Q L W I R G N V S A C A R S I F I F D E M D K M H A G L I D A I K P F L D Y Y D L V D G V S Y Q K A M F I F L S N A G A E R I T D V A L D F W R S G K Q R E D I K L K D I E H A L S V S V F N N K N S G F W H S S L I H R N L I D Y F V P F L P L E Y K H L K M C I R V E M Q S R G Y E I D E D I V S R V A E E M T F F P K E E R V F S D K G C K T V F T K L D Y Y Y D D
- Accession
- O14656
- Protein length
- Full Length
- Predicted molecular weight
- 38.1 kDa
- Amino acids
- 21 to 332
- Nature
- Recombinant
- Tags
- His tag N-Terminus
Specifications
- Form
- Liquid
General info
- 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 with TOR1B in non-neural tissues.
- Sequence similarities
Belongs to the ClpA/ClpB family. Torsin subfamily.
- Post-translational modifications
N-glycosylated.
- Subcellular localisation
- Nucleus membrane, Cytoskeleton
Storage
- Shipped at conditions
- Blue Ice
- Appropriate short-term storage duration
- 1-2 weeks
- Appropriate short-term storage conditions
- +4°C
- Appropriate long-term storage conditions
- -20°C
- Aliquoting information
- Upon delivery aliquot
- Storage information
- Avoid freeze / thaw cycle
Notes
This product was previously labelled as Torsin A
Supplementary info
- This supplementary information is collated from multiple sources and compiled automatically.
- Activity summary
Torsin A also known as DYT1 is an endoplasmic reticulum-based AAA+ ATPase protein. It has a molecular mass of approximately 37 kDa. Torsin A is widely expressed in the central nervous system particularly in neurons. As part of its mechanical function Torsin A plays an important role in ATP binding and hydrolysis which drive conformational changes required for its activities. It is associated with maintaining proper protein folding and quality control within the endoplasmic reticulum and its activity supports membrane trafficking processes.
- Biological function summary
Torsin A participates in neuronal functions that ensure cellular homeostasis. It functions within the hetero-oligomeric complexes aiding in the assembly of cellular structures such as the nuclear envelope. Through its interaction with nuclear envelope proteins Torsin A contributes to the maintenance of nuclear integrity. This function helps to regulate the movement of lipids and proteins between the endoplasmic reticulum and other parts of the cell indicating its role in intracellular transport mechanisms.
- Pathways
This protein contributes to the dysbindin-containing biogenesis of lysosome-related organelles complex 1 (BLOC-1) pathway important in cellular trafficking processes. Torsin A interacts with other AAA+ ATPases and is closely related to LULL1 (luminal domain-like LAP1) which is a partner protein involved in similar pathways. Its function connects to cholesterol biosynthesis pathways indicating its influence on lipid homeostasis in neurons.
- Associated diseases and disorders
Mutations in the TOR1A gene that encodes Torsin A cause early-onset torsion dystonia a movement disorder affecting muscle contractions and control. Similar to DYT1 dystonia alterations in Torsin A function have links to Parkinson's disease as both conditions involve disruptions in cellular signaling pathways in neurons. Torsin A has connections to other proteins implicated in these disorders like Parkin which participates in cellular quality control impacting the same neuronal pathways disrupted in these disorders.
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1 product image
SDS-PAGE - Recombinant Human Torsin A/DYT1 protein (ab156747)
15% SDS-PAGE analysis of 3µg ab156747.
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