Torsin A: Difference between revisions

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{{Infobox_gene}}
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'''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).<ref name="pmid10644435">{{cite journal |vauthors=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 | title = The TOR1A (DYT1) gene family and its role in early onset torsion dystonia | journal = Genomics | volume = 62 | issue = 3 | pages = 377–84 |date=Mar 2000 | pmid = 10644435 | pmc =  | doi = 10.1006/geno.1999.6039 }}</ref> TorA localizes to the [[endoplasmic reticulum]] and contiguous [[Nuclear membrane|perinuclear space]], where its ATPase activity is activated by either LULL1 or [[TOR1AIP1|LAP1]], respectively.
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Torsin family 1, member A (torsin A)
| HGNCid = 3098
| Symbol = TOR1A
| AltSymbols =; DQ2; DYT1; torsin A
| OMIM = 605204
| ECnumber =
| Homologene = 37263
| MGIid = 1353568
  | GeneAtlas_image1 = PBB_GE_TOR1A_202348_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_TOR1A_202349_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0008462 |text = endopeptidase Clp activity}} {{GNF_GO|id=GO:0051082 |text = unfolded protein binding}}
| Component = {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}}
| Process = {{GNF_GO|id=GO:0006457 |text = protein folding}} {{GNF_GO|id=GO:0006986 |text = response to unfolded protein}} {{GNF_GO|id=GO:0051085 |text = chaperone cofactor-dependent protein folding}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 1861
    | Hs_Ensembl = ENSG00000136827
    | Hs_RefseqProtein = NP_000104
    | Hs_RefseqmRNA = NM_000113
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 9
    | Hs_GenLoc_start = 131615043
    | Hs_GenLoc_end = 131626234
    | Hs_Uniprot = O14656
    | Mm_EntrezGene = 30931
    | Mm_Ensembl = ENSMUSG00000026849
    | Mm_RefseqmRNA = NM_144884
    | Mm_RefseqProtein = NP_659133
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 30782636
    | Mm_GenLoc_end = 30789942
    | Mm_Uniprot = Q3TV62
  }}
}}
'''Torsin family 1, member A (torsin A)''', also known as '''TOR1A''', is a human [[gene]].


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{PBB_Summary
| section_title =  
| summary_text = 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.<ref>{{cite web | title = Entrez Gene: TOR1A torsin family 1, member A (torsin A)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1861| accessdate = }}</ref>
}}
==See also==
*[[AAA proteins]]
*[[Torsion dystonia]]


==References==
The protein encoded by this gene is a member of the [[AAA proteins|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]].<ref name = "entrez"/>
{{reflist|2}}
 
==Further reading==
== Clinical significance ==
 
Mutations in this gene result in the autosomal dominant disorder, [[torsion dystonia|torsion dystonia 1]].<ref name = "entrez">{{cite web | title = Entrez Gene: TOR1A torsin family 1, member A (torsin A)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1861 }}</ref>
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite journal   |vauthors=Ozelius LJ, Hewett JW, Page CE, etal |title=The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family. |journal=Advances in Neurology |volume=78 |issue=  |pages= 93–105 |year= 1998 |pmid= 9750906 |doi=  }}
| citations =
*{{cite journal  |vauthors=Ferrari Toninelli G, Spano P, Memo M |title=TorsinA, microtubules and cell polarity. |journal=Funct. Neurol. |volume=18 |issue= 1 |pages= 7–10 |year= 2003 |pmid= 12760408 |doi=  }}
*{{cite journal | author=Ozelius LJ, Hewett JW, Page CE, ''et al.'' |title=The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family. |journal=Advances in neurology |volume=78 |issue=  |pages= 93-105 |year= 1998 |pmid= 9750906 |doi=  }}
*{{cite journal  |vauthors=Rothwell JC, Edwards M, Huang YZ, Bhatia KP |title=Physiological studies in carriers of the DYT1 gene mutation. |journal=Rev. Neurol. (Paris) |volume=159 |issue= 10 Pt 1 |pages= 880–4 |year= 2004 |pmid= 14615676 |doi=  }}
*{{cite journal  | author=Ferrari Toninelli G, Spano P, Memo M |title=TorsinA, microtubules and cell polarity. |journal=Funct. Neurol. |volume=18 |issue= 1 |pages= 7-10 |year= 2003 |pmid= 12760408 |doi=  }}
*{{cite journal   |vauthors=Ozelius LJ, Hewett JW, Page CE, etal |title=The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. |journal=Nat. Genet. |volume=17 |issue= 1 |pages= 40–8 |year= 1997 |pmid= 9288096 |doi= 10.1038/ng0997-40 }}
*{{cite journal  | author=Rothwell JC, Edwards M, Huang YZ, Bhatia KP |title=Physiological studies in carriers of the DYT1 gene mutation. |journal=Rev. Neurol. (Paris) |volume=159 |issue= 10 Pt 1 |pages= 880-4 |year= 2004 |pmid= 14615676 |doi=  }}
*{{cite journal   |vauthors=Augood SJ, Penney JB, Friberg IK, etal |title=Expression of the early-onset torsion dystonia gene (DYT1) in human brain. |journal=Ann. Neurol. |volume=43 |issue= 5 |pages= 669–73 |year= 1998 |pmid= 9585364 |doi= 10.1002/ana.410430518 }}
*{{cite journal | author=Ozelius LJ, Hewett JW, Page CE, ''et al.'' |title=The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. |journal=Nat. Genet. |volume=17 |issue= 1 |pages= 40-8 |year= 1997 |pmid= 9288096 |doi= 10.1038/ng0997-40 }}
*{{cite journal   |vauthors=Kamm C, Castelon-Konkiewitz E, Naumann M, etal |title=GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany. |journal=Mov. Disord. |volume=14 |issue= 4 |pages= 681–3 |year= 1999 |pmid= 10435508 |doi=10.1002/1531-8257(199907)14:4<681::AID-MDS1020>3.0.CO;2-M }}
*{{cite journal | author=Augood SJ, Penney JB, Friberg IK, ''et al.'' |title=Expression of the early-onset torsion dystonia gene (DYT1) in human brain. |journal=Ann. Neurol. |volume=43 |issue= 5 |pages= 669-73 |year= 1998 |pmid= 9585364 |doi= 10.1002/ana.410430518 }}
*{{cite journal   |vauthors=Ikeuchi T, Shimohata T, Nakano R, etal |title=A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation. |journal=Neurogenetics |volume=2 |issue= 3 |pages= 189–90 |year= 1999 |pmid= 10541594 |doi=10.1007/s100480050082 }}
*{{cite journal | author=Kamm C, Castelon-Konkiewitz E, Naumann M, ''et al.'' |title=GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany. |journal=Mov. Disord. |volume=14 |issue= 4 |pages= 681-3 |year= 1999 |pmid= 10435508 |doi=  }}
*{{cite journal   |vauthors=Shashidharan P, Kramer BC, Walker RH, etal |title=Immunohistochemical localization and distribution of torsinA in normal human and rat brain. |journal=Brain Res. |volume=853 |issue= 2 |pages= 197–206 |year= 2000 |pmid= 10640617 |doi=10.1016/S0006-8993(99)02232-5  }}
*{{cite journal | author=Ikeuchi T, Shimohata T, Nakano R, ''et al.'' |title=A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation. |journal=Neurogenetics |volume=2 |issue= 3 |pages= 189-90 |year= 1999 |pmid= 10541594 |doi=  }}
*{{cite journal   |vauthors=Hewett J, Gonzalez-Agosti C, Slater D, etal |title=Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells. |journal=Hum. Mol. Genet. |volume=9 |issue= 9 |pages= 1403–13 |year= 2000 |pmid= 10814722 |doi=10.1093/hmg/9.9.1403 }}
*{{cite journal | author=Shashidharan P, Kramer BC, Walker RH, ''et al.'' |title=Immunohistochemical localization and distribution of torsinA in normal human and rat brain. |journal=Brain Res. |volume=853 |issue= 2 |pages= 197-206 |year= 2000 |pmid= 10640617 |doi= }}
*{{cite journal  |vauthors=Kustedjo K, Bracey MH, Cravatt BF |title=Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations. |journal=J. Biol. Chem. |volume=275 |issue= 36 |pages= 27933–9 |year= 2000 |pmid= 10871631 |doi= 10.1074/jbc.M910025199 }}
*{{cite journal  | author=Ozelius LJ, Page CE, Klein C, ''et al.'' |title=The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. |journal=Genomics |volume=62 |issue= 3 |pages= 377-84 |year= 2000 |pmid= 10644435 |doi= 10.1006/geno.1999.6039 }}
*{{cite journal   |vauthors=Suzuki Y, Tsunoda T, Sese J, etal |title=Identification and characterization of the potential promoter regions of 1031 kinds of human genes. |journal=Genome Res. |volume=11 |issue= 5 |pages= 677–84 |year= 2001 |pmid= 11337467 |doi=   10.1101/gr.gr-1640r| pmc=311086 }}
*{{cite journal | author=Hewett J, Gonzalez-Agosti C, Slater D, ''et al.'' |title=Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells. |journal=Hum. Mol. Genet. |volume=9 |issue= 9 |pages= 1403-13 |year= 2000 |pmid= 10814722 |doi=  }}
*{{cite journal  |vauthors=Konakova M, Huynh DP, Yong W, Pulst SM |title=Cellular distribution of torsin A and torsin B in normal human brain. |journal=Arch. Neurol. |volume=58 |issue= 6 |pages= 921–7 |year= 2001 |pmid= 11405807 |doi=10.1001/archneur.58.6.921 }}
*{{cite journal  | author=Kustedjo K, Bracey MH, Cravatt BF |title=Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations. |journal=J. Biol. Chem. |volume=275 |issue= 36 |pages= 27933-9 |year= 2000 |pmid= 10871631 |doi= 10.1074/jbc.M910025199 }}
*{{cite journal   |vauthors=Sharma N, Hewett J, Ozelius LJ, etal |title=A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study. |journal=Am. J. Pathol. |volume=159 |issue= 1 |pages= 339–44 |year= 2001 |pmid= 11438481 |doi= | pmc=1850427 }}
*{{cite journal | author=Suzuki Y, Tsunoda T, Sese J, ''et al.'' |title=Identification and characterization of the potential promoter regions of 1031 kinds of human genes. |journal=Genome Res. |volume=11 |issue= 5 |pages= 677-84 |year= 2001 |pmid= 11337467 |doi= 10.1101/gr.164001 }}
*{{cite journal   |vauthors=Leung JC, Klein C, Friedman J, etal |title=Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. |journal=Neurogenetics |volume=3 |issue= 3 |pages= 133–43 |year= 2002 |pmid= 11523564 |doi=10.1007/s100480100111 }}
*{{cite journal  | author=Konakova M, Huynh DP, Yong W, Pulst SM |title=Cellular distribution of torsin A and torsin B in normal human brain. |journal=Arch. Neurol. |volume=58 |issue= 6 |pages= 921-7 |year= 2001 |pmid= 11405807 |doi=  }}
*{{cite journal   |vauthors=Tuffery-Giraud S, Cavalier L, Roubertie A, etal |title=No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia. |journal=J. Med. Genet. |volume=38 |issue= 10 |pages= E35 |year= 2002 |pmid= 11584049 |doi=10.1136/jmg.38.10.e35  | pmc=1734733 }}
*{{cite journal | author=Sharma N, Hewett J, Ozelius LJ, ''et al.'' |title=A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study. |journal=Am. J. Pathol. |volume=159 |issue= 1 |pages= 339-44 |year= 2001 |pmid= 11438481 |doi=  }}
*{{cite journal  |vauthors=Major T, Svetel M, Romac S, Kostić VS |title=DYT1 mutation in primary torsion dystonia in a Serbian population. |journal=J. Neurol. |volume=248 |issue= 11 |pages= 940–3 |year= 2002 |pmid= 11757956 |doi=10.1007/s004150170045 }}
*{{cite journal | author=Leung JC, Klein C, Friedman J, ''et al.'' |title=Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. |journal=Neurogenetics |volume=3 |issue= 3 |pages= 133-43 |year= 2002 |pmid= 11523564 |doi=  }}
*{{cite journal   |vauthors=Walker RH, Morgello S, Davidoff-Feldman B, etal |title=Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions. |journal=Neurology |volume=58 |issue= 7 |pages= 1031–7 |year= 2002 |pmid= 11940688 |doi=  10.1212/wnl.58.7.1031}}
*{{cite journal | author=Tuffery-Giraud S, Cavalier L, Roubertie A, ''et al.'' |title=No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia. |journal=J. Med. Genet. |volume=38 |issue= 10 |pages= E35 |year= 2002 |pmid= 11584049 |doi=  }}
*{{cite journal  |vauthors=Hjermind LE, Werdelin LM, Sørensen SA |title=Inherited and de novo mutations in sporadic cases of DYT1-dystonia. |journal=Eur. J. Hum. Genet. |volume=10 |issue= 3 |pages= 213–6 |year= 2002 |pmid= 11973627 |doi= 10.1038/sj.ejhg.5200782 }}
*{{cite journal  | author=Major T, Svetel M, Romac S, Kostić VS |title=DYT1 mutation in primary torsion dystonia in a Serbian population. |journal=J. Neurol. |volume=248 |issue= 11 |pages= 940-3 |year= 2002 |pmid= 11757956 |doi=  }}
*{{cite journal | author=Walker RH, Morgello S, Davidoff-Feldman B, ''et al.'' |title=Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions. |journal=Neurology |volume=58 |issue= 7 |pages= 1031-7 |year= 2002 |pmid= 11940688 |doi=  }}
*{{cite journal  | author=Hjermind LE, Werdelin LM, Sørensen SA |title=Inherited and de novo mutations in sporadic cases of DYT1-dystonia. |journal=Eur. J. Hum. Genet. |volume=10 |issue= 3 |pages= 213-6 |year= 2002 |pmid= 11973627 |doi= 10.1038/sj.ejhg.5200782 }}
}}
{{refend}}
{{refend}}
== External links ==
*[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=dystonia  GeneReview/NIH/UW entry on Early-Onset Primary Dystonia]


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[[pl:Torsyna A]]
 
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Latest revision as of 07:35, 10 January 2019

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

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 and is expressed prominently in the substantia nigra pars compacta.[2]

Clinical significance

Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1.[2]

References

  1. ↑ 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.
  2. ↑ 2.0 2.1 "Entrez Gene: TOR1A torsin family 1, member A (torsin A)".

Further reading

External links

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


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