TOR1A Antibody, FITC conjugated (PACO47728)
- SKU:
- PACO47728
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Antibody type:
- Polyclonal
- Conjugation:
- FITC
Description
| Antibody Name: | TOR1A Antibody, FITC conjugated (PACO47728) |
| Antibody SKU: | PACO47728 |
| Size: | 50ug |
| Host Species: | Rabbit |
| Tested Applications: | ELISA |
| Recommended Dilutions: | |
| Species Reactivity: | Human |
| Immunogen: | Recombinant Human Torsin-1A protein (88-125AA) |
| Form: | Liquid |
| Storage Buffer: | Preservative: 0.03% Proclin 300 Constituents: 50% Glycerol, 0.01M PBS, PH 7.4 |
| Purification Method: | >95%, Protein G purified |
| Clonality: | Polyclonal |
| Isotype: | IgG |
| Conjugate: | FITC |
| Background: | 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. |
| Synonyms: | Torsin-1A (Dystonia 1 protein) (Torsin ATPase-1A) (EC 3.6.4) (Torsin family 1 member A), TOR1A, DQ2 DYT1 TA TORA |
| 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: | TOR1AÂ Â |
| NCBI Official Synonym Symbols: | DQ2; DYT1Â Â |
| 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: | TOR1AÂ Â |
| UniProt Entry Name: | TOR1A_HUMAN |
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