Torsin-1A (TorA) also known as dystonia 1 protein (DYT1) is a protein that in humans is encoded by the TOR1Agene (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.
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 significanceedit
Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1.[6]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000136827 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000026849 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^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.
^ ab"Entrez Gene: TOR1A torsin family 1, member A (torsin A)".
Further readingedit
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. S2CID 29095964.
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. S2CID 30238231.
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. S2CID 20194006.
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. S2CID 27834129.
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. S2CID 7112316.
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. PMC311086. 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. doi:10.1016/s0002-9440(10)61700-2. PMC1850427. 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. S2CID 11713438.
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): 35e–35. doi:10.1136/jmg.38.10.e35. PMC1734733. 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. S2CID 10128440.
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 linksedit
GeneReview/NIH/UW entry on Early-Onset Primary Dystonia
torsin, torsin, tora, also, known, dystonia, protein, dyt1, protein, that, humans, encoded, tor1a, gene, also, known, dyt1, tora, localizes, endoplasmic, reticulum, contiguous, perinuclear, space, where, atpase, activity, activated, either, lull1, lap1, respec. 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 TOR1AIdentifiersAliasesTOR1A DQ2 DYT1 Torsin A torsin family 1 member A AMC5External IDsOMIM 605204 MGI 1353568 HomoloGene 37263 GeneCards TOR1AGene location Human Chr Chromosome 9 human 1 Band9q34 11Start129 812 942 bp 1 End129 824 244 bp 1 Gene location Mouse Chr Chromosome 2 mouse 2 Band2 2 BStart30 850 639 bp 2 End30 857 945 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed instromal cell of endometriumsecondary oocytemonocyteendothelial cellsmooth muscle tissuebloodleft adrenal glandgallbladderrectumislet of LangerhansTop expressed insecondary oocyterenal corpuscleyolk sacmedullary collecting ductproximal tubuleneural tubeduodenumliverendocardial cushionsacculeMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionnucleotide binding unfolded protein binding misfolded protein binding cytoskeletal protein binding ATPase activity protein binding kinesin binding hydrolase activity ATP bindingCellular componentcytoplasm 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 organelleBiological processregulation 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 foldingSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez186130931EnsemblENSG00000136827ENSMUSG00000026849UniProtO14656Q9ER39RefSeq mRNA NM 000113NM 144884RefSeq protein NP 000104NP 659133Location UCSC Chr 9 129 81 129 82 MbChr 2 30 85 30 86 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Clinical significance 3 References 4 Further reading 5 External linksFunction editThe 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 editMutations in this gene result in the autosomal dominant disorder torsion dystonia 1 6 References edit a b c GRCh38 Ensembl release 89 ENSG00000136827 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000026849 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine 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 a b Entrez Gene TOR1A torsin family 1 member A torsin A Further reading editOzelius 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 S2CID 29095964 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 S2CID 30238231 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 lt 681 AID MDS1020 gt 3 0 CO 2 M PMID 10435508 S2CID 20194006 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 S2CID 27834129 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 S2CID 7112316 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 doi 10 1016 s0002 9440 10 61700 2 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 S2CID 11713438 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 35e 35 doi 10 1136 jmg 38 10 e35 PMC 1734733 PMID 11584049 Major T Svetel M Romac S Kostic VS 2002 DYT1 mutation in primary torsion dystonia in a Serbian population J Neurol 248 11 940 3 doi 10 1007 s004150170045 PMID 11757956 S2CID 10128440 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 S2CID 38388934 Hjermind LE Werdelin LM Sorensen 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 editGeneReview NIH UW entry on Early Onset Primary DystoniaThis article incorporates text from the United States National Library of Medicine which is in the public domain nbsp This article on a gene on human chromosome 9 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Torsin A amp oldid 1171092002, wikipedia, wiki, book, books, library,
