Torsin A

TOR1A
Identifiers
Aliases	TOR1A, DQ2, DYT1, Torsin A, torsin family 1 member A
External IDs	MGI: 1353568 HomoloGene: 37263 GeneCards: TOR1A
Gene location (Human) Chr. Chromosome 9 (human) Band No data available Start 129,812,944 bp End 129,824,134 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band No data available Start 30,960,627 bp End 30,967,933 bp
RNA expression pattern 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 • chaperone-mediated protein transport • 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 mediated protein folding requiring cofactor • 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)	n/a	NM_144884
RefSeq (protein)	NP_000104	NP_659133
Location (UCSC)	Chr 9: 129.81 – 129.82 Mb	Chr 9: 30.96 – 30.97 Mb
PubMed search

1861

30931

ENSG00000136827

ENSMUSG00000026849

O14656

Q9ER39

n/a

NM_144884

NP_000104

NP_659133

Torsin-1A (TOR1A) 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).

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.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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