Torsin A

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).^[5] TorA localizes to the endoplasmic reticulum and contiguous perinuclear space, where its ATPase activity is activated by either LULL1 or LAP1, respectively.

TOR1A
Identifiers
Aliases	TOR1A, DQ2, DYT1, Torsin A, torsin family 1 member A, AMC5
External IDs	OMIM: 605204; MGI: 1353568; HomoloGene: 37263; GeneCards: TOR1A; OMA:TOR1A - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q34.11 Start 129,812,942 bp[1] End 129,824,244 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 B Start 30,850,639 bp[2] End 30,857,945 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium secondary oocyte monocyte endothelial cell granulocyte smooth muscle tissue blood right adrenal cortex left adrenal gland gallbladder Top expressed in primary oocyte secondary oocyte zygote granulocyte renal corpuscle otic vesicle yolk sac medullary collecting duct proximal tubule neural tube More reference expression data BioGPS 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 Species Human Mouse Entrez 1861 30931 Ensembl ENSG00000136827 ENSMUSG00000026849 UniProt O14656 Q9ER39 RefSeq (mRNA) NM_000113 NM_144884 RefSeq (protein) NP_000104 NP_659133 Location (UCSC) Chr 9: 129.81 – 129.82 Mb Chr 2: 30.85 – 30.86 Mb PubMed search [3] [4]
Wikidata
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Function

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.^[6]

Clinical significance

Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1.^[6]