TOR1A blocking peptide

TOR1A Antibody (C-term) Blocking Peptide

• Gene Names: TOR1A; DQ2; DYT1
• Synonyms: TOR1A; TOR1A Antibody (C-term) Blocking Peptide; Torsin-1A; Dystonia 1 protein; Torsin ATPase-1A; 364-; Torsin family 1 member A; DQ2; DYT1; TA; TORA; TOR1A blocking peptide

• Form/Format: Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.
• Sequence Length: 332

• Cellular Location: Endoplasmic reticulum lumen. Nucleus membrane; Peripheral membrane protein. Cell projection, growth cone. Cytoplasmic vesicle membrane Cytoplasmic vesicle, secretory vesicle. 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
• Tissue Location: 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.
• Preparation and Storage: Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Related Product Information for TOR1A blocking peptide

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.

NCBI and Uniprot Product Information

• NCBI GI #: 13878817
• NCBI GeneID: 1861
• UniProt Accession #: O14656; Q53Y64; Q96CA0; B2RB58
• Molecular Weight: 22,135 Da
• NCBI Official Full Name: Torsin-1A
• NCBI Official Synonym Full Names: torsin family 1 member A
• NCBI Official Symbol: TOR1A
• NCBI Official Synonym Symbols: DQ2; DYT1
• NCBI Protein Information: torsin-1A
• UniProt Protein Name: Torsin-1A
• Protein Family: Torsin
• UniProt Gene Name: TOR1A
• UniProt Synonym Gene Names: DQ2; DYT1; TA; TORA
• UniProt Entry Name: TOR1A_HUMAN

NCBI Description

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 Description

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.

Protein type: Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 9q34

Cellular Component: cytoplasmic vesicle membrane; endoplasmic reticulum; endoplasmic reticulum lumen; growth cone; membrane; nuclear envelope; secretory granule; synaptic vesicle

Molecular Function: ATPase activity; cytoskeletal protein binding; kinesin binding; protein binding

Biological Process: cell adhesion; intermediate filament cytoskeleton organization and biogenesis; neurite development; nuclear membrane organization and biogenesis; organelle organization and biogenesis; protein deneddylation; protein homooligomerization; regulation of dopamine uptake; synaptic vesicle transport

Disease: Dystonia 1, Torsion, Autosomal Dominant