Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TOR1A Gene

protein-coding   GIFtS: 61
GCID: GC09M132575

torsin family 1, member A (torsin A)

(Previous names: dystonia 1, torsion (autosomal dominant; torsin A) )
(Previous symbol: DYT1)
 Explore 30 diseases affiliated with
TOR1A via our new
 Human Malady Compendium 
Biological research products
for TOR1A
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Torsin Family 1, Member A (Torsin A)1 2     Dystonia 1 Protein2 3
DYT11 2 3 5     Torsin Family 1 Member A2 3
DQ21 2 3     Torsin-1A1
Dystonia 1, Torsion (Autosomal Dominant; Torsin A)1 2     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TOR1A:
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)

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TOR1A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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 with TOR1AIP1 and TOR1AIP2. Interacts with KLHL14, preferentially when
ATP-free
Subcellular location: 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
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O14656

  • TOR1A Protein expression data from MOPED and PaxDb:    About this image 
    TOR1A Protein Expression
    REFSEQ proteins: NP_000104.1  
    ENSEMBL proteins: 
     ENSP00000345719  

    Human Recombinant Protein Products for TOR1A: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: TOR1A
    OriGene Protein Over-expression Lysate: TOR1A
    OriGene Custom Protein Services for TOR1A 
    GenScript Custom Purified and Recombinant Proteins Services for TOR1A
    Novus Biologicals TOR1A Proteins
    Novus Biologicals TOR1A Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TOR1A

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625soluble fraction ----
    GO:0005634nucleus ----
    GO:0005635nuclear envelope ----
    GO:0005737cytoplasm TAS10814722
    GO:0005783endoplasmic reticulum TAS10814722

    TOR1A for ontologies           About GeneDecksing



    TOR1A Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of TOR1A
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for TOR1A 
    OriGene Antibodies: TOR1A
    OriGene Custom Antibody Services for TOR1A 
    GenScript Superior Antibodies for TOR1A
    Novus Biologicals TOR1A Antibody
    Abcam antibodies for TOR1A 
    Uscn Antibodies for TOR1A
    ThermoFisher Antibodies for TOR1A

    Assay Products for TOR1A: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TOR1A
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for TOR1A


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TOR1A for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR017378 Torsin_subgr
     IPR010448 Torsin

    Graphical View of Domain Structure for InterPro Entry O14656

    ProtoNet protein and cluster: O14656

    1 Blocks protein family: IPB010448 Torsin

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    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

         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

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252serine-type endopeptidase activity TAS9288096
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
    GO:0051082unfolded protein binding TAS10814722
         
    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:
         Mouse knock-outs for TOR1A: Tor1atm2.1Yql Tor1atm1Wtd
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TOR1A 

    miRNA
    Products:
        
    OriGene 3'-UTR Clone: TOR1A
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TOR1A
    8/11 QIAGEN miScript miRNA 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
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TOR1A (see all 4)
    OriGene shRNA RFP: TOR1A
    OriGene siRNA: TOR1A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TOR1A
    Sirion Biotech Custom design and validation of potent shRNA sequences against TOR1A 

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TOR1A
    Sirion Biotech Customized adenovirus for overexpression of TOR1A 
    Sirion Biotech Customized adenovirus for potent knockdown of TOR1A

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TOR1A (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TOR1A (see all 2)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: TOR1A (NM_000113)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TOR1A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOR1A 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TOR1A
    Search LifeMap BioReagents cell lines for TOR1A
    Sirion Biotech Customized stable knockdown cell line services for TOR1A 
    Sirion Biotech Customized inducible knockdown cell line services for TOR1A
    Sirion Biotech Customized stable overexpressing cell line services for TOR1A
    Sirion Biotech Customized inducible overexpressing cell line services for TOR1A

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOR1A


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cytoskeletal Signaling
    Cytoskeletal Signaling1.00
    2Alpha-synuclein signaling
    Alpha-synuclein signaling1.00
    3Neuroscience
    Neuroscience1.00

    Pathway sources
    See GeneCards unified pathways
    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TOR1A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/14 Interacting proteins for TOR1A (O146562, 3 ENSP000003457194) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    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): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006457protein folding TAS9288096
    GO:0006986response to unfolded protein TAS9288096
    GO:0051085chaperone mediated protein folding requiring cofactor IEA--
    GO:0051260protein homooligomerization IDA--
    GO:0071763nuclear membrane organization IEA--

    TOR1A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TOR1A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TOR1A
    4 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about TOR1A 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)


    miRNA
    Products:
         
    OriGene 3'-UTR Clone: TOR1A
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TOR1A
    8/11 QIAGEN miScript miRNA 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
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TOR1A (see all 4)
    OriGene shRNA RFP: TOR1A
    OriGene siRNA: TOR1A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TOR1A
    Sirion Biotech Custom design and validation of potent shRNA sequences against TOR1A 
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TOR1A (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TOR1A (see all 2)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: TOR1A (NM_000113)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TOR1A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOR1A 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TOR1A
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TOR1A
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TOR1A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TOR1A

    Additional cDNA 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 

    24/279 AceView cDNA sequences (see all 279):

    BM759836 BM464643 CR623187 BC014484 CA942174 CR602179 AA614414 AA766539 
    AW305016 AA767261 CB996059 BM927216 CF593682 CR622117 AA312679 CA412462 
    BU538028 BI195565 BX412626 CD105750 BG469813 BU617002 AA593777 BM924465 

    GeneLoc Exon Structure

    5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TOR1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGCCAAAAAA
    TOR1A Expression
    About this image
    See TOR1A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TOR1A

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including TOR1A: 
              Unfolded Protein Response in human mouse rat
              Heat Shock Proteins & Chaperones in human mouse rat

    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TOR1A
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TOR1A
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TOR1A
    QIAGEN 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TOR1A gene from 5/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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 torp4a1 CG3024-PA 49.36(n)
    35.99(a)
      31399  NM_131950.2  NP_572178.1 
    worm
    (Caenorhabditis elegans)
    Secernentea tor-16
    ooc-56
    (see all 3)
    Torsin-like protein
    (see all 3)
    37(a)
    34(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    IV(13984226-13985668)
    II(8993105-8994473)


    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)
    About This Section
    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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/271 NCBI SNPs in TOR1A are shown (see all 271    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs18019681,2
    C,F,O,Hpathogenic102179726(-) TCACAG/CATGTG 2 /H /D mis1 ese333Minor allele frequency- C:0.09EA MN NS NA EU 11285
    rs792017181,2
    F--102174130(+) TCAGCA/TTCCTC 1 -- ut311Minor allele frequency- T:0.25WA 118
    rs778896481,2
    C,F--102174260(+) AGCACG/ATGTGG 1 -- ut311Minor allele frequency- A:0.25WA 118
    rs10454411,2
    C,F,H--102174636(+) GATACA/TTCACA 1 -- ut31 ese37Minor allele frequency- T:0.06NS EA NA WA 658
    rs11831,2
    C,F,H--102174875(+) TGCGTG/CTTCGG 1 -- ut3114Minor allele frequency- C:0.08MN NA NS EA WA 1178
    rs109885231,2
    C,H--102175332(+) TGCCAG/AAAGCC 2 /F syn1 ese34Minor allele frequency- A:0.00NS EA 418
    rs774077021,2
    F--102175429(+) CCATCC/TGTCCC 1 -- int11Minor allele frequency- T:0.03EA 120
    rs109885241,2
    A--102175496(+) CACCCA/CCCCCC 1 -- int10--------
    rs123427581,2
    C,F,H--102176090(+) TTGGCC/TGTGTT 1 -- int16Minor allele frequency- T:0.02NS EA WA 508
    rs22745051,2
    C,F,H--102176111(+) AATGCA/G/TGGCTG 1 -- int15EA NS 1922

    HapMap Linkage Disequilibrium report for TOR1A (132575221 - 132586441 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TOR1A: --
    Human Gene Mutation Database (HGMD): TOR1A

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TOR1A for disorders           About GeneDecksing

    OMIM gene information: 605204   
    OMIM disorders: 128100  
    UniProtKB/Swiss-Prot: TOR1A_HUMAN, O14656
  • Defects in TOR1A are the cause of dystonia type 1 (DYT1) [MIM:128100]. DYT1 is 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. DYT1 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

    20/30 diseases for TOR1A (see all 30):    About MalaCards
    dystonia 1    torsion dystonia    dystonia, early-onset atypical, with myoclonic features    early-onset primary dystonia (dyt1)
    rapid-onset dystonia-parkinsonism    dystonia-1, modifier of    dystonia musculorum deformans    spasmodic dysphonia
    obsessive-compulsive disorder    myoclonus-dystonia    focal dystonia    limb dystonia
    blepharospasm    child syndrome    cerebral palsy    familial dystonia
    myoclonus    acanthocytosis    herpes simplex    tourette syndrome

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

    10/15 Novoseek 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
    Early-Onset Primary Dystonia (DYT1)

    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)
    About This Section

    PubMed articles for TOR1A gene, integrated from 9 sources (see all 226):
    (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. (2000)
    2. Mutations in DYT1: extension of the phenotypic and mutational spectrum. (PubMed id 14872019)1, 4, 9 Kabakci K....Klein C. (2004)
    3. 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. (2003)
    4. 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. (1999)
    5. DYT1 mutation in Korean primary dystonia patients. (PubMed id 15465399)1, 4, 9 Im J.H....Jeon B.S. (2004)
    6. DYT1 mutation in a cohort of Taiwanese primary dystonias. (PubMed id 16198613)1, 4, 9 Lin Y.W....Lu C.S. (2006)
    7. Frequency of DYT1 mutation in early onset primary dystonia in Italian patients. (PubMed id 11921134)1, 4, 9 Zorzi G....Nardocci N. (2002)
    8. Microstructural white matter changes in carriers of the DYT1 gene mutation. (PubMed id 15293281)1, 4, 9 Carbon M....Eidelberg D. (2004)
    9. Candidate gene studies in focal dystonia. (PubMed id 14581671)1, 4, 9 Sibbing D....Bandmann O. (2003)
    10. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. (PubMed id 9288096)1, 2, 9 Ozelius L.J.... Breakefield X.O. (1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 1861 HGNC: 3098 AceView: DYT1 Ensembl:ENSG00000136827 euGenes: HUgn1861
    ECgene: TOR1A H-InvDB: TOR1A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TOR1A Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TOR1A

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     EMD Millipore Mono- and Polyclonal Antibodies for the study of TOR1A
     Browse for Gene Knock-down Tools from EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     Browse Small Molecules at EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for TOR1A   OriGene shRNA RFP for TOR1A  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TOR1A   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TOR1A  
     OriGene Protein Over-expression Lysate for TOR1A   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for TOR1A   OriGene 3'-UTR Clone for TOR1A  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TOR1A   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TOR1A  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for TOR1A   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for TOR1A   OriGene Custom Protein Services for TOR1A  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TOR1A
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TOR1A
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TOR1A
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TOR1A
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TOR1A
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TOR1A
     GenScript Custom Purified and Recombinant Proteins Services for TOR1A GenScript cDNA clones with any tag delivered in your preferred vector for TOR1A
     GenScript Custom Assay Services for TOR1A GenScript Superior Antibodies for TOR1A
     GenScript Custom overexpressing Cell Line Services for TOR1A CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Antibodies & Assays for TOR1A 

     Regulatory tfbs in TOR1A promoter
     Search Chromatin IP Primers for TOR1A
     RT2 qPCR Primer Assay in human, mouse, rat TOR1A
     GNC Network for TOR1A
     SABiosciences PCR Arrays including human, mouse, rat TOR1A
     Search Tocris compounds for TOR1A
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     TOR1A antibodies
     TOR1A proteins
     TOR1A lysates
     Antibodies for TOR1A
     See all of Abcam's Antibodies, Kits and Proteins for TOR1A
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     TOR1A Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for TOR1A
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOR1A
     SwitchGear 3'UTR luciferase reporter plasmids for TOR1A
     SwitchGear Promoter luciferase reporter plasmids for TOR1A
     ThermoFisher Antibodies for TOR1A
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOR1A
     inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TOR1A
    Sirion Biotech Customized:
     stable knockdown cell line services for TOR1A
     inducible knockdown cell line services for TOR1A
     design and validation of potent shRNA sequences against TOR1A
     adenovirus for potent knockdown of TOR1A
     adenovirus for overexpression of TOR1A
     stable overexpressing cell line services for TOR1A
     inducible overexpressing cell line services for TOR1A
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      TOR1A gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4