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TOR1A Gene

protein-coding   GIFtS: 64
GCID: GC09M132575

Torsin Family 1, Member A (Torsin A)

(Previous names: dystonia 1, torsion (autosomal dominant; torsin A))
(Previous symbol: DYT1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Torsin Family 1, Member A (Torsin A)1 2     Torsin Family 1 Member A2 3
DYT11 2 3 5     DQ22 3
Dystonia 1, Torsion (Autosomal Dominant; Torsin A)1 2     torsin-1A2
Dystonia 1 Protein2 3     EC 3.6.4.-3
Torsin ATPase 12 3     TORA3

External Ids:    HGNC: 30981   Entrez Gene: 18612   Ensembl: ENSG000001368277   OMIM: 6052045   UniProtKB: O146563   

Export aliases for TOR1A gene to outside databases

Previous GC identifers: GC09M129655 GC09M131615 GC09M102174


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TOR1A Gene:
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. (provided by RefSeq, Jul
2008)

GeneCards Summary for TOR1A Gene:
TOR1A (torsin family 1, member A (torsin A)) is a protein-coding gene. Diseases associated with TOR1A include dystonia-1, torsion, and dystonia-1, modifier of. GO annotations related to this gene include unfolded protein binding and serine-type endopeptidase activity. An important paralog of this gene is TOR2A.

UniProtKB/Swiss-Prot: TOR1A_HUMAN, O14656
Function: May serve as a molecular chaperone assisting in the proper folding of secreted and/or membrane proteins.
In the nucleus, displaces the nuclear membrane proteins SUN2, SYNE2 and SYNE3, leaving nuclear pores and SUN1
unchanged

Gene Wiki entry for TOR1A (Torsin A) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NC_018920.2  NT_008470.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the TOR1A gene promoter:
         Tal-1   p53   Lmo2   CUTL1   AP-2gamma   E47   Arnt   Roaz   AREB6   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTOR1A promoter sequence
   Search Chromatin IP Primers for TOR1A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TOR1A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34   Ensembl cytogenetic band:  9q34.11   HGNC cytogenetic band: 9q32-q34

TOR1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TOR1A gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M132575:  view genomic region     (about GC identifiers)

Start:
132,575,221 bp from pter      End:
132,586,441 bp from pter
Size:
11,221 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TOR1A_HUMAN, O14656 (See protein sequence)
Recommended Name: Torsin-1A precursor  
Size: 332 amino acids; 37809 Da
Subunit: May form homohexamers. Interacts (ATP-bound) with TOR1AIP1 and TOR1AIP2; the interactions induce ATPase
activity. Interacts with KLHL14; preferentially when ATP-free
Secondary accessions: B2RB58 Q53Y64 Q96CA0
Alternative splicing: 2 isoforms:  O14656-1   O14656-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TOR1A: NX_O14656

Explore proteomics data for TOR1A at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn143, Asn158
  • Modification sites at PhosphoSitePlus

  • See TOR1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000104.1  
    ENSEMBL proteins: 
     ENSP00000345719  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR017378 Torsin_subgr
     IPR027417 P-loop_NTPase
     IPR010448 Torsin

    Graphical View of Domain Structure for InterPro Entry O14656

    ProtoNet protein and cluster: O14656

    1 Blocks protein domain: IPB010448 Torsin

    UniProtKB/Swiss-Prot: TOR1A_HUMAN, O14656
    Similarity: Belongs to the ClpA/ClpB family. Torsin subfamily


    TOR1A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TOR1A_HUMAN, O14656
    Function: May serve as a molecular chaperone assisting in the proper folding of secreted and/or membrane proteins.
    In the nucleus, displaces the nuclear membrane proteins SUN2, SYNE2 and SYNE3, leaving nuclear pores and SUN1
    unchanged
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Genatlas biochemistry entry for TOR1A:
    torsin 1A ATP binding protein,homolog to TOR1B,expressed in adult brain substantia nigra,hippocampus,frontal
    cortex,homolog to heat shock proteins and C1p proteases

         Enzyme Number (IUBMB): EC 3.6.4.-1

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252serine-type endopeptidase activity TAS9288096
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity IDA--
    GO:0019894kinesin binding IEA--
         
    TOR1A for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Tor1a):
     behavior/neurological  cellular  homeostasis/metabolism  mortality/aging  nervous system 

    TOR1A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TOR1A: Tor1atm2.1Yql Tor1atm1Wtd

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TOR1A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TOR1A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TOR1A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TOR1A

    miRNA
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    miRTarBase miRNAs that target TOR1A:
    hsa-mir-16-5p (MIRT051256)

    Block miRNA regulation of human, mouse, rat TOR1A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TOR1A (see all 11):
    hsa-miR-142-5p hsa-miR-502-5p hsa-miR-4300 hsa-miR-561 hsa-miR-548e hsa-miR-3667-3p hsa-miR-920 hsa-miR-1233
    SwitchGear 3'UTR luciferase reporter plasmidTOR1A 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TOR1A
    Predesigned siRNA for gene silencing in human, mouse, rat TOR1A

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: TOR1A (NM_000113)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOR1A

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOR1A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TOR1A_HUMAN, O14656: Endoplasmic reticulum lumen. Nucleus membrane. Note=Mainly located in the lumen of the
    endoplasmic reticulum. The association with nuclear envelope is mediated by the interaction with TOR1AIP2. The
    Glu-303 del variant is lumenally-oriented in discrete large spheroid intracellular structures rather than in the
    endoplasmic reticulum
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    nucleus5
    extracellular2
    golgi apparatus1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005635nuclear envelope ----
    GO:0005737cytoplasm TAS10814722
    GO:0005783endoplasmic reticulum TAS10814722
    GO:0005788endoplasmic reticulum lumen IDA--

    TOR1A for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TOR1A About    
    See pathways by source

    SuperPathContained pathways About
    1Neuroscience
    Neuroscience
    2Cytoskeletal Signaling
    Cytoskeletal Signaling
    3Alpha-synuclein signaling
    Alpha-synuclein signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for TOR1A
        Neuroscience
    Cytoskeletal Signaling

    1 BioSystems Pathway for TOR1A
        Alpha-synuclein signaling




    TOR1A for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TOR1A: 
              Unfolded Protein Response in human mouse rat
              Heat Shock Proteins & Chaperones in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TOR1A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for TOR1A (O146562, 3 ENSP000003457194) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COPS4Q9BT782, 3, ENSP000002643894MINT-8092170 I2D: score=1 STRING: ENSP00000264389
    CNIH4Q9P0033, ENSP000004204434I2D: score=2 STRING: ENSP00000420443
    DHCR7Q9UBM73, ENSP000003477174I2D: score=2 STRING: ENSP00000347717
    H2AFXP161043, ENSP000003643104I2D: score=2 STRING: ENSP00000364310
    LRRC7Q96NW73, ENSP000000353834I2D: score=2 STRING: ENSP00000035383
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process IDA--
    GO:0006457protein folding TAS9288096
    GO:0006508proteolysis TAS9288096
    GO:0006979response to oxidative stress IEA--
    GO:0006986response to unfolded protein TAS9288096

    TOR1A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TOR1A

    4 Novoseek inferred chemical compound relationships for TOR1A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamate 37.9 16 19665049 (1), 10644435 (1), 15555920 (1), 16275837 (1) (see all 10)
    dopamine 27.5 7 10720299 (4), 19038309 (1), 9585364 (1)
    gtp 14.4 3 12194383 (1), 10919137 (1), 15651334 (1)
    tyrosine 0 4 11528394 (1), 12194383 (1), 10919137 (1)



    TOR1A for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TOR1A gene: 
    NM_000113.2  

    Unigene Cluster for TOR1A:

    Torsin family 1, member A (torsin A)
    Hs.534312  [show with all ESTs]
    Unigene Representative Sequence: NM_000113
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000351698(uc004byl.3) ENST00000474192 ENST00000473604 ENST00000473084(uc004byn.3)


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    Selected qRT-PCR Assays for microRNAs that regulate TOR1A (see all 11):
    hsa-miR-142-5p hsa-miR-502-5p hsa-miR-4300 hsa-miR-561 hsa-miR-548e hsa-miR-3667-3p hsa-miR-920 hsa-miR-1233
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    Additional mRNA sequence: 

    AF007871.1 AK056062.1 AK075343.1 AK130769.1 AK294677.1 AK314505.1 BC000674.2 BC014484.1 
    BT006931.1 

    10 DOTS entries:

    DT.87017237  DT.100821060  DT.95242375  DT.91755233  DT.100821070  DT.95132482  DT.40123373  DT.100821057 
    DT.100821061  DT.91755231 

    Selected AceView cDNA sequences (see all 279):

    BG422877 BI195565 BM423588 CR602179 BE645556 AK075343 BU174166 CR623187 
    BX440402 BM759836 BM789686 BE314317 BX412626 BU790209 CB306726 CR622117 
    AA767261 BG249185 AA312679 AI161107 BM809113 BM997457 BM810942 BM550963 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TOR1A (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c
    SP1:              -                                         -                     
    SP2:              -                                         -                     
    SP3:              -                                                               
    SP4:              -     -                                                         
    SP5:                                                                              


    ECgene alternative splicing isoforms for TOR1A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TOR1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCCAAAAAA
    TOR1A Expression
    About this image

    TOR1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TOR1A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.534312

    UniProtKB/Swiss-Prot: TOR1A_HUMAN, O14656
    Tissue specificity: Widely expressed. Highest levels in kidney and liver. Not detected in spleen. In the brain,
    high levels found in the dopaminergic neurons of the substantia nigra pars compacta, as well as in the neocortex,
    hippocampus and cerebellum. Also high expression in the spinal cord

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TOR1A: 
              Unfolded Protein Response in human mouse rat
              Heat Shock Proteins & Chaperones in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat TOR1A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOR1A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for TOR1A gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tor1a1 , 5 torsin family 1, member A (torsin A)1, 5 86.14(n)1
    90.96(a)1
      2 (21.77 cM)5
    309311  NM_144884.21  NP_659133.11 
     309606275 
    chicken
    (Gallus gallus)
    Aves TOR1A1 torsin family 1, member A (torsin A) 75.56(n)
    76.07(a)
      417190  NM_001030687.1  NP_001025858.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.158832 Xenopus laevis transcribed sequence with moderate similarity more 77.24(n)    CA973636.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.166952 Transcribed sequence with moderate similarity to protein more 78.4(n)    57070418 
    fruit fly
    (Drosophila melanogaster)
    Insecta Torsin1 Torsin 49.26(n)
    35.99(a)
      31399  NM_131950.3  NP_572178.1 
    worm
    (Caenorhabditis elegans)
    Secernentea tor-16
    ooc-56
    (see all 3)
    Protein TOR-1 (tor-1) mRNA, complete cds
    Protein OOC-5, isoform b (ooc-5) mRNA, complete cd...
    (see all 3)
    37(a)
    34(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    IV(13984251-13985693) WBGene00006597
    II(8993169-8994535) WBGene00003870


    ENSEMBL Gene Tree for TOR1A (if available)
    TreeFam Gene Tree for TOR1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TOR1A gene
    TOR2A2  TOR4A2  TOR1B2  TOR3A2  
    3 SIMAP similar genes for TOR1A using alignment to 2 protein entries:     TOR1A_HUMAN (see all proteins):
    TOR1B    TOR2A    TOR3A

    TOR1A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TOR1A (see all 327)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs18019681,2,,4
    C,F,O,Hpathogenic1102179726(-) TCACAG/CATGTG 2 /H /D mis1 ese333Minor allele frequency- C:0.09EA MN NS NA EU 11285
    rs1462416421,2
    --102173565(+) TCTAAC/TGCTTG 1 -- int10--------
    rs1925133311,2
    --102173581(+) ATCTTC/TAGGTG 1 -- int10--------
    rs1848204091,2
    --102173653(+) CGTTAC/GACCTG 1 -- int10--------
    rs132835841,2
    C,F,A,H--102173702(+) AGTGGC/TCCCTG 1 -- int19Minor allele frequency- T:0.22NS EA NA CSA 663
    rs1160541011,2
    C,F--102173837(+) TACTTG/AAACTC 1 -- int11Minor allele frequency- A:0.01WA 118
    rs1896393251,2
    --102173868(+) TCCAAA/GAACCC 1 -- int10--------
    rs1393204341,2
    C--102173938(+) TCAGAC/TCCCTG 1 -- int10--------
    rs1930531531,2
    --102173994(+) TCACTC/TGCAGC 1 -- int10--------
    rs1500053081,2
    --102174061(+) ACCAAC/TGGCAC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for TOR1A (132575221 - 132586441 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TOR1A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv6729CNV Insertion18451855
    nsv893925CNV Gain21882294

    Human Gene Mutation Database (HGMD): TOR1A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TOR1A
    DNA2.0 Custom Variant and Variant Library Synthesis for TOR1A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605204   
    OMIM disorders: 128100  
    UniProtKB/Swiss-Prot: TOR1A_HUMAN, O14656
  • Dystonia 1, torsion, autosomal dominant (DYT1) [MIM:128100]: A primary torsion dystonia, and the most
    common and severe form. Dystonia is defined by the presence of sustained involuntary muscle contractions, often
    leading to abnormal postures. Dystonia type 1 is characterized by involuntary, repetitive, sustained muscle
    contractions or postures involving one or more sites of the body, in the absence of other neurological symptoms.
    Typically, symptoms develop first in an arm or leg in middle to late childhood and progress in approximately 30%
    of patients to other body regions (generalized dystonia) within about five years. 'Torsion' refers to the
    twisting nature of body movements observed in DYT1, often affecting the trunk. Distribution and severity of
    symptoms vary widely between affected individuals, ranging from mild focal dystonia to severe generalized
    dystonia, even within families. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • Selected diseases for TOR1A (see all 30):    
    About MalaCards
    dystonia-1, torsion    dystonia-1, modifier of    torsion dystonia    dystonia, early-onset atypical, with myoclonic features
    dystonia 1    dystonia-11, myoclonic    rapid-onset dystonia-parkinsonism    spasmodic dysphonia
    focal dystonia    blepharospasm    limb dystonia    myoclonus-dystonia
    chorea-acanthocytosis    acanthocytosis    dystonia musculorum deformans    familial dystonia
    chorea    cerebral palsy    obsessive-compulsive disorder    myoclonus

    3 diseases from the University of Copenhagen DISEASES database for TOR1A:
    Familial dystonia     Movement disease     Eyelid disease

    TOR1A for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for TOR1A gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    torsion dystonia 98.3 92 19038309 (3), 9585364 (3), 11277585 (2), 10644435 (2) (see all 63)
    dystonia primary 96.9 46 16631205 (4), 19344776 (3), 11921134 (3), 16198613 (3) (see all 25)
    secondary dystonia 90.3 3 9191768 (1), 9750907 (1), 11948764 (1)
    focal dystonia 88.6 11 9837831 (3), 11087801 (1), 15726581 (1), 14581671 (1) (see all 7)
    dystonias sporadic 88.1 1 16631205 (1)
    movement disorders 86.1 15 14872019 (2), 12360559 (1), 16830314 (1), 12402271 (1) (see all 12)
    myoclonic dystonia 85.1 1 16227522 (1)
    blepharospasm 63.2 3 19202559 (2), 17133500 (1)
    early disease onset 61.8 1 19457118 (1)
    cerebral palsy 33.8 2 15996397 (1)

    GeneTests: TOR1A
    GeneReviews: TOR1A
    Genetic Association Database (GAD): TOR1A
    Human Genome Epidemiology (HuGE) Navigator: TOR1A (25 documents)

    Export disorders for TOR1A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TOR1A gene, integrated from 10 sources (see all 235):
    (articles sorted by number of sources associating them with TOR1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations. (PubMed id 10871631)1, 2, 9 Kustedjo K.... Cravatt B.F. (J. Biol. Chem. 2000)
    2. DYT1 mutations amongst adult primary dystonia patients in Singapore with review of literature comparing East and West. (PubMed id 16631205)1, 4, 9 Jamora R.D....Tan L.C. (J. Neurol. Sci. 2006)
    3. Mutations in DYT1: extension of the phenotypic and mutational spectrum. (PubMed id 14872019)1, 4, 9 Kabakci K....Klein C. (Neurology 2004)
    4. DYT1 mutations in early onset primary torsion dystonia and Parkinson disease patients in Chinese populations. (PubMed id 19038309)1, 4, 9 Yang J.F....Chan P. (Neurosci. Lett. 2009)
    5. Genotype-phenotype interactions in primary dystonias revealed by differential changes in brain structure. (PubMed id 19344776)1, 4, 9 Draganski B....Frackowiak R.S. (Neuroimage 2009)
    6. Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia. (PubMed id 12975293)1, 4, 9 Grundmann K....Riess O. (Arch. Neurol. 2003)
    7. The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. (PubMed id 10644435)1, 3, 9 Ozelius L.J....Breakefield X.O. (Genomics 1999)
    8. Impaired body movement representation in DYT1 mutation carriers. (PubMed id 18571468)1, 4, 9 Fiorio M....Tinazzi M. (Clin Neurophysiol 2008)
    9. DYT1 mutation in Korean primary dystonia patients. (PubMed id 15465399)1, 4, 9 Im J.H....Jeon B.S. (amp 2004)
    10. Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia. (PubMed id 17503336)1, 4, 9 Risch N.J....Ozelius L.J. (Am. J. Hum. Genet. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1861 HGNC: 3098 AceView: DYT1 Ensembl:ENSG00000136827 euGenes: HUgn1861
    ECgene: TOR1A H-InvDB: TOR1A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TOR1A Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TOR1A[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TOR1A gene:
    Search GeneIP for patents involving TOR1A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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