Human TOR1A Recombinant Protein (RPPB4985)
- SKU:
- RPPB4985
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- O14656
Description
| Product Name: | Human TOR1A Recombinant Protein |
| Product Code: | RPPB4985 |
| Size: | 20µg |
| Species: | Human |
| Target: | TOR1A |
| Synonyms: | DQ2, DYT1, Torsin-1A, Dystonia 1 protein, Torsin family 1 member A, TOR1A. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered colorless solution. |
| Formulation: | The TOR1A solution (1mg/ml) contains 20mM Tris-HCl buffer (pH 8.0), 0.4M Urea and 10% glycerol. |
| Stability: | Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles. |
| Purity: | Greater than 90% as determined by SDS-PAGE. |
| 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 |
TOR1A which is a member of the AAA family of adenosine triphosphatases (ATPases) is associated to the Clp protease/heat shock family and is expressed highly in the substantia nigra pars compacta.TOR1A functions as a molecular chaperone assisting in the suitable folding of secreted and/or membrane proteins. Mutations in TOR1A result in the autosomal dominant disorder, torsion dystonia one.
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.
| UniProt Protein Function: | TOR1A: 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. May form homohexamers. Interacts with TOR1AIP1 and TOR1AIP2. Interacts with KLHL14, preferentially when ATP-free. 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. Belongs to the clpA/clpB family. Torsin subfamily. 2 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Secreted, signal peptide; Secreted Chromosomal Location of Human Ortholog: 9q34 Cellular Component: synaptic vesicle; transport vesicle; nuclear membrane; growth cone; cytoskeleton; cytoplasmic vesicle membrane; intracellular membrane-bound organelle; membrane; endoplasmic reticulum lumen; nuclear envelope; cell junction; secretory granule Molecular Function:protein binding; kinesin binding; ATPase activity; cytoskeletal protein binding; unfolded protein binding; misfolded protein binding; ATP binding Biological Process: protein deneddylation; chaperone cofactor-dependent protein folding; organelle organization and biogenesis; synaptic vesicle transport; regulation of dopamine uptake; intermediate filament cytoskeleton organization and biogenesis; response to oxidative stress; cell adhesion; nuclear membrane organization and biogenesis; neurite development; protein homooligomerization Disease: Dystonia 1, Torsion, Autosomal Dominant |
| NCBI Summary: | The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008] |
| UniProt Code: | O14656 |
| NCBI GenInfo Identifier: | 13878817 |
| NCBI Gene ID: | 1861 |
| NCBI Accession: | O14656.1 |
| UniProt Secondary Accession: | O14656,Q53Y64, Q96CA0, B2RB58, |
| UniProt Related Accession: | O14656 |
| Molecular Weight: | 37,809 Da |
| NCBI Full Name: | Torsin-1A |
| NCBI Synonym Full Names: | torsin family 1, member A (torsin A) |
| NCBI Official Symbol: | TOR1A�� |
| NCBI Official Synonym Symbols: | DQ2; DYT1�� |
| NCBI Protein Information: | torsin-1A; torsin ATPase 1; torsin ATPase-1A; dystonia 1 protein; torsin family 1 member A; dystonia 1, torsion (autosomal dominant; torsin A) |
| UniProt Protein Name: | Torsin-1A |
| UniProt Synonym Protein Names: | Dystonia 1 protein; Torsin ATPase-1A (EC:3.6.4.-); Torsin family 1 member A |
| UniProt Gene Name: | TOR1A�� |
| UniProt Entry Name: | TOR1A_HUMAN |
