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

TOR3A Gene

protein-coding   GIFtS: 51
GCID: GC01P179050

Torsin Family 3, Member A

(Previous name: ATP-dependant interferon responsive)
(Previous symbol: ADIR)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Torsin Family 3, Member A1 2     ADIR22
ADIR1 2 3 5     ATP-Dependant Interferon Response Protein 12
ATP-Dependant Interferon Responsive1 2     torsin-3A2
ATP-Dependent Interferon-Responsive Protein2 3     Torsin Family 3 Member A3

External Ids:    HGNC: 119971   Entrez Gene: 642222   Ensembl: ENSG000001862837   OMIM: 6075555   UniProtKB: Q9H4973   

Export aliases for TOR3A gene to outside databases

Previous GC identifers: GC00U990670 GC01P174479 GC01U900786 GC01P176290 GC01P175782 GC01P177317 GC01P150279


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

GeneCards Summary for TOR3A Gene: 
TOR3A (torsin family 3, member A) is a protein-coding gene. Diseases associated with TOR3A include torsion dystonia, and intellectual disability. GO annotations related to this gene include ATP binding. An important paralog of this gene is TOR1A.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TOR3A gene promoter:
         Nkx3-1   Nkx3-1 v4   Pax-5   Nkx3-1 v1   AREB6   Nkx3-1 v2   Chx10   Nkx3-1 v3   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTOR3A promoter sequence
   Search SABiosciences Chromatin IP Primers for TOR3A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TOR3A


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

Entrez Gene cytogenetic band: 1q25.2   Ensembl cytogenetic band:  1q25.2   HGNC cytogenetic band: 1q25.2

TOR3A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TOR3A gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P179050:  view genomic region     (about GC identifiers)

Start:
179,050,512 bp from pter      End:
179,067,158 bp from pter
Size:
16,647 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TOR3A_HUMAN, Q9H497 (See protein sequence)
Recommended Name: Torsin-3A precursor  
Size: 397 amino acids; 46199 Da
Subcellular location: Cytoplasm. Endoplasmic reticulum
Secondary accessions: B4DSY0 B7ZB65 Q5M7Y7 Q8WVA7 Q8WWM2 Q9H495 Q9H6E7
Alternative splicing: 3 isoforms:  Q9H497-1   Q9H497-2   Q9H497-3   

Explore the universe of human proteins at neXtProt for TOR3A: NX_Q9H497

Explore proteomics data for TOR3A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H497

  • TOR3A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TOR3A Protein Expression
    REFSEQ proteins: NP_071766.2  
    ENSEMBL proteins: 
     ENSP00000356599   ENSP00000356597   ENSP00000435744   ENSP00000335351   ENSP00000410195  

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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TOR3A 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005788endoplasmic reticulum lumen IDA--

    TOR3A for ontologies           About GeneDecksing



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

    Graphical View of Domain Structure for InterPro Entry Q9H497

    ProtoNet protein and cluster: Q9H497

    1 Blocks protein domain: IPB010448 Torsin

    UniProtKB/Swiss-Prot: TOR3A_HUMAN, Q9H497
    Similarity: Belongs to the ClpA/ClpB family. Torsin subfamily


    TOR3A 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
         
    TOR3A for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for TOR3A:
     Decreased viability with pacli  Increased cell number in G2M,   Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TOR3A 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TOR3A 
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    SwitchGear 3'UTR luciferase reporter plasmidTOR3A 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TOR3A

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for TOR3A (ENSP000003565994) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TOR1AIP1ENSP000002715834STRING: ENSP00000271583
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0051085chaperone mediated protein folding requiring cofactor IEA--

    TOR3A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TOR3A

    Search CenterWatch for drugs/clinical trials and news about TOR3A

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TOR3A gene: 
    NM_022371.3  

    Unigene Cluster for TOR3A:

    Torsin family 3, member A
    Hs.584957  [show with all ESTs]
    Unigene Representative Sequence: NM_022371
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367627(uc001gmd.3 uc010pnd.2) ENST00000367625 ENST00000483887
    ENST00000352445 ENST00000472001 ENST00000447595 ENST00000495145
    miRNA
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    hsa-miR-3910 hsa-miR-124 hsa-miR-362-3p hsa-miR-593* hsa-miR-506 hsa-miR-590-3p hsa-miR-4282 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidTOR3A 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TOR3A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TOR3A

    Additional mRNA sequence: 

    AJ299403.1 AJ299441.1 AK025998.1 AK130132.1 AK299966.1 AK316530.1 BC001085.1 BC007571.1 
    BC011746.1 BC018292.1 BC088368.1 CR457354.1 

    12 DOTS entries:

    DT.310502  DT.95085651  DT.86850469  DT.100813087  DT.92440113  DT.121446640  DT.100033617  DT.100755319 
    DT.86847176  DT.100766445  DT.97846344  DT.121446592 

    24/233 AceView cDNA sequences (see all 233):

    CR612199 AA775388 BQ642330 BQ061399 BQ691862 CR614363 BU623969 BM781731 
    BQ278718 BP340000 BQ884301 CD365719 CR600139 BM905644 BX355234 AW297716 
    BM852945 BG330135 AI553657 BQ056266 AW582913 BI910959 CB529571 CD516184 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for TOR3A (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9
    SP1:                                      -     -           -     -                                         -     -     -     -         
    SP2:                                      -     -           -     -                                                                     
    SP3:                                      -     -           -     -     -     -                                                         
    SP4:                                      -     -           -     -     -                                                               
    SP5:                                      -                 -     -                                                                     


    ECgene alternative splicing isoforms for TOR3A

    (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

    TOR3A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGTTGTAT
    TOR3A Expression
    About this image


    See TOR3A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TOR3A

    SOURCE GeneReport for Unigene cluster: Hs.584957

    UniProtKB/Swiss-Prot: TOR3A_HUMAN, Q9H497
    Tissue specificity: Ubiquitously expressed. Highest expression in stomach, salivary glands and lymph nodes.
    Isoform 2 is expressed in placenta

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    In Situ
    Assay Products:
     

     
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    (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 TOR3A gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tor3a1 , 5 torsin family 3, member A1, 5 77.16(n)1
    70.9(a)1
      1 (67.71 cM)5
    309351  NM_023141.21  NP_075630.21 
     1566536175 
    chicken
    (Gallus gallus)
    Aves TOR3A1 torsin family 3, member A 67.66(n)
    59.19(a)
      424426  XM_422270.2  XP_422270.1 
    lizard
    (Anolis carolinensis)
    Reptilia TOR3A6
    torsin family 3, member A
    55(a)
    1 ↔ 1
    GL343300.1(878441-903555)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7928351 torsin family 3, member A 60.76(n)
    53.49(a)
      792835  NM_001128266.1  NP_001121738.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Torsin6
    Torsin
    27(a)
    1 → many
    X(4542625-4543865)
    worm
    (Caenorhabditis elegans)
    Secernentea tor-16
    ooc-56
    (see all 3)
    Torsin-like protein
    (see all 3)
    28(a)
    27(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    IV(13984251-13985693)
    II(8993167-8994535)


    ENSEMBL Gene Tree for TOR3A (if available)
    TreeFam Gene Tree for TOR3A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TOR3A gene
    TOR1A2  TOR2A2  TOR4A2  TOR1B2  
    3 SIMAP similar genes for TOR3A using alignment to 4 protein entries:     TOR3A_HUMAN (see all proteins):
    TOR1B    TOR1A    TOR2A

    TOR3A for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TOR3A
    PGOHUM00000243269


    (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) 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

    10/410 SNPs in TOR3A are shown (see all 410)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs574691131,2
    F--179049184(+) AAACTA/GTTGTT 1 -- us2k11Minor allele frequency- G:0.02EA 120
    rs1929605141,2
    --179049254(+) CTTGCC/GTCCTG 1 -- us2k10--------
    rs1497011551,2
    --179049406(+) TTTTTA/TTAGGT 1 -- us2k10--------
    rs1844135231,2
    --179049419(+) GGAAAC/TAGGCA 1 -- us2k10--------
    rs752511331,2
    C--179049538(+) CTTTTC/TTCTTT 1 -- us2k13Minor allele frequency- T:0.08NA EA 242
    rs668316721,2
    C--179049547(+) TTTCT-/TTTTTTT 1 -- us2k10--------
    rs770678941,2
    --179049547(+) TTTTTC/TTTTTT 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs104583671,2
    C,F,A--179049606(+) AGTGGC/TACCAT 1 -- us2k17Minor allele frequency- T:0.19NA WA CSA 16
    rs1891936511,2
    C--179049649(+) CAAGCC/TATTCT 1 -- us2k10--------
    rs1819094021,2
    --179049777(+) CTGATC/TTCAGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TOR3A (179050512 - 179067158 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TOR3A:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2658665CNV Deletion23128226
    nsv3721CNV Insertion18451855

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for TOR3A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607555    OMIM disorders: --

    4 diseases for TOR3A:    About MalaCards
    torsion dystonia    intellectual disability    hepatitis b    hepatitis


    TOR3A for disorders           About GeneDecksing

    Genetic Association Database (GAD): TOR3A
    Human Genome Epidemiology (HuGE) Navigator: TOR3A (2 documents)

    Export disorders for TOR3A 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 TOR3A gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with TOR3A)
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    1. Molecular cloning of ADIR, a novel interferon responsive gene encoding a protein related to the torsins. (PubMed id 11863361)1, 2, 9 Dron M....Tovey M.G. (2002)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. (PubMed id 10644435)1, 3 Ozelius L.J....Breakefield X.O. (1999)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    10. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 64222 HGNC: 11997 AceView: TOR3A Ensembl:ENSG00000186283 euGenes: HUgn64222
    ECgene: TOR3A H-InvDB: TOR3A

    (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 TOR3A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TOR3A gene:
    Search GeneIP for patents involving TOR3A

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



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