Torsin A

TOR1A
Identifiers
Aliases	TOR1A, DQ2, DYT1, Torsin A, torsin family 1 member A, AMC5
External IDs	OMIM: 605204 MGI: 1353568 HomoloGene: 37263 GeneCards: TOR1A
Gene location (Human)
Chr.	Chromosome 9 (human)
End	129,824,244 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	30,857,945 bp
RNA expression pattern
	Top expressed in
	stromal cell of endometrium; ; secondary oocyte; ; monocyte; ; endothelial cell; ; smooth muscle tissue; ; blood; ; left adrenal gland; ; gallbladder; ; rectum; ; islet of Langerhans;
	Top expressed in
	secondary oocyte; ; renal corpuscle; ; yolk sac; ; medullary collecting duct; ; proximal tubule; ; neural tube; ; duodenum; ; liver; ; endocardial cushion; ; saccule;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	nucleotide binding; unfolded protein binding; misfolded protein binding; cytoskeletal protein binding; ATPase activity; protein binding; kinesin binding; hydrolase activity; ATP binding;
Cellular component	cytoplasm; cell projection; endoplasmic reticulum lumen; nuclear envelope; membrane; synaptic vesicle; growth cone; synapse; secretory granule; transport vesicle; cell junction; extrinsic component of endoplasmic reticulum membrane; endoplasmic reticulum; neuron projection; cytoskeleton; cytoplasmic vesicle membrane; extracellular exosome; cytoplasmic vesicle; nucleus; cytosol; nuclear membrane; intracellular membrane-bounded organelle;
Biological process	regulation of dopamine uptake involved in synaptic transmission; regulation of protein localization to cell surface; nuclear envelope organization; ER-associated misfolded protein catabolic process; response to oxidative stress; organelle organization; chaperone cofactor-dependent protein refolding; cell adhesion; nuclear membrane organization; positive regulation of synaptic vesicle endocytosis; intermediate filament cytoskeleton organization; protein localization to nucleus; synaptic vesicle transport; protein deneddylation; neuron projection development; protein homooligomerization; wound healing, spreading of cells; chaperone-mediated protein folding;
	Sources:Amigo / QuickGO
Orthologs
	1861
	30931
	ENSG00000136827
	ENSMUSG00000026849
	O14656
	Q9ER39
	NM_000113
	NM_144884
	NP_000104
	NP_659133
	Wikidata
View/Edit Human	View/Edit Mouse

Torsin-1A (TorA) also known as dystonia 1 protein (DYT1) is a protein that in humans is encoded by the TOR1A gene (also known as DQ2 or DYT1). TorA localizes to the endoplasmic reticulum and contiguous perinuclear space, where its ATPase activity is activated by either LULL1 or LAP1, respectively.

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