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
External IDs	OMIM: 605204 MGI: 1353568 HomoloGene: 37263 GeneCards: TOR1A
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 30,960,627 bp[2] End 30,967,933 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • nucleotide binding • unfolded protein binding • misfolded protein binding • cytoskeletal protein binding • ATPase activity • GO:0001948 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 • cell 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)	NM_000113	NM_144884
RefSeq (protein)	NP_000104	NP_659133
Location (UCSC)	Chr 9: 129.81 – 129.82 Mb	Chr 2: 30.96 – 30.97 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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]

References

1. GRCh38: Ensembl release 89: ENSG00000136827 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000026849 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Ozelius LJ, Page CE, Klein C, Hewett JW, Mineta M, Leung J, Shalish C, Bressman SB, de Leon D, Brin MF, Fahn S, Corey DP, Breakefield XO (Mar 2000). "The TOR1A (DYT1) gene family and its role in early onset torsion dystonia". Genomics. 62 (3): 377–84. doi:10.1006/geno.1999.6039. PMID 10644435.
6. "Entrez Gene: TOR1A torsin family 1, member A (torsin A)".

Further reading

• Ozelius LJ, Hewett JW, Page CE, et al. (1998). "The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family". Advances in Neurology. 78: 93–105. PMID 9750906.
• Ferrari Toninelli G, Spano P, Memo M (2003). "TorsinA, microtubules and cell polarity". Funct. Neurol. 18 (1): 7–10. PMID 12760408.
• Rothwell JC, Edwards M, Huang YZ, Bhatia KP (2004). "Physiological studies in carriers of the DYT1 gene mutation". Rev. Neurol. (Paris). 159 (10 Pt 1): 880–4. PMID 14615676.
• Ozelius LJ, Hewett JW, Page CE, et al. (1997). "The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein". Nat. Genet. 17 (1): 40–8. doi:10.1038/ng0997-40. PMID 9288096.
• Augood SJ, Penney JB, Friberg IK, et al. (1998). "Expression of the early-onset torsion dystonia gene (DYT1) in human brain". Ann. Neurol. 43 (5): 669–73. doi:10.1002/ana.410430518. PMID 9585364.
• Kamm C, Castelon-Konkiewitz E, Naumann M, et al. (1999). "GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany". Mov. Disord. 14 (4): 681–3. doi:10.1002/1531-8257(199907)14:4<681::AID-MDS1020>3.0.CO;2-M. PMID 10435508.
• Ikeuchi T, Shimohata T, Nakano R, et al. (1999). "A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation". Neurogenetics. 2 (3): 189–90. doi:10.1007/s100480050082. PMID 10541594.
• Shashidharan P, Kramer BC, Walker RH, et al. (2000). "Immunohistochemical localization and distribution of torsinA in normal human and rat brain". Brain Res. 853 (2): 197–206. doi:10.1016/S0006-8993(99)02232-5. PMID 10640617.
• Hewett J, Gonzalez-Agosti C, Slater D, et al. (2000). "Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells". Hum. Mol. Genet. 9 (9): 1403–13. doi:10.1093/hmg/9.9.1403. PMID 10814722.
• Kustedjo K, Bracey MH, Cravatt BF (2000). "Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations". J. Biol. Chem. 275 (36): 27933–9. doi:10.1074/jbc.M910025199. PMID 10871631.
• Suzuki Y, Tsunoda T, Sese J, et al. (2001). "Identification and characterization of the potential promoter regions of 1031 kinds of human genes". Genome Res. 11 (5): 677–84. doi:10.1101/gr.gr-1640r. PMC 311086. PMID 11337467.
• Konakova M, Huynh DP, Yong W, Pulst SM (2001). "Cellular distribution of torsin A and torsin B in normal human brain". Arch. Neurol. 58 (6): 921–7. doi:10.1001/archneur.58.6.921. PMID 11405807.
• Sharma N, Hewett J, Ozelius LJ, et al. (2001). "A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study". Am. J. Pathol. 159 (1): 339–44. PMC 1850427. PMID 11438481.
• Leung JC, Klein C, Friedman J, et al. (2002). "Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism". Neurogenetics. 3 (3): 133–43. doi:10.1007/s100480100111. PMID 11523564.
• Tuffery-Giraud S, Cavalier L, Roubertie A, et al. (2002). "No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia". J. Med. Genet. 38 (10): E35. doi:10.1136/jmg.38.10.e35. PMC 1734733. PMID 11584049.
• Major T, Svetel M, Romac S, Kostić VS (2002). "DYT1 mutation in primary torsion dystonia in a Serbian population". J. Neurol. 248 (11): 940–3. doi:10.1007/s004150170045. PMID 11757956.
• Walker RH, Morgello S, Davidoff-Feldman B, et al. (2002). "Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions". Neurology. 58 (7): 1031–7. doi:10.1212/wnl.58.7.1031. PMID 11940688.
• Hjermind LE, Werdelin LM, Sørensen SA (2002). "Inherited and de novo mutations in sporadic cases of DYT1-dystonia". Eur. J. Hum. Genet. 10 (3): 213–6. doi:10.1038/sj.ejhg.5200782. PMID 11973627.

External links

• GeneReview/NIH/UW entry on Early-Onset Primary Dystonia

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