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TOR4A Gene

protein-coding   GIFtS: 35
GCID: GC09P140173

Torsin Family 4, Member A

(Previous name: chromosome 9 open reading frame 167)
(Previous symbol: C9orf167)
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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 4, Member A1 2
C9orf1671 2 3
Torsin Family 4 Member A2 3
Chromosome 9 Open Reading Frame 1671
Torsin Family Protein C9orf1672
torsin-4A2

External Ids:    HGNC: 259811   Entrez Gene: 548632   Ensembl: ENSG000001981137   UniProtKB: Q9NXH83   

Export aliases for TOR4A gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TOR4A Gene:
TOR4A (torsin family 4, member A) is a protein-coding gene. GO annotations related to this gene include nucleoside-triphosphatase activity. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008470.20  
Regulatory elements:
   Search for regulatory transcription factor binding sites for TOR4A
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for TOR4A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TOR4A


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

Entrez Gene cytogenetic band: 9q34.3   Ensembl cytogenetic band:  9q34.3   HGNC cytogenetic band: 9q34.3

TOR4A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TOR4A gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P140173:  view genomic region     (about GC identifiers)

Start:
140,172,201 bp from pter      End:
140,177,093 bp from pter
Size:
4,893 bases      Orientation:
plus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TOR4A_HUMAN, Q9NXH8 (See protein sequence)
Recommended Name: Torsin-4A  
Size: 423 amino acids; 46914 Da
Secondary accessions: A2BFA4

Explore the universe of human proteins at neXtProt for TOR4A: NX_Q9NXH8

Explore proteomics data for TOR4A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys75
  • Modification sites at PhosphoSitePlus

  • See TOR4A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060193.2  
    ENSEMBL proteins: 
     ENSP00000350102  

    TOR4A Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for TOR4A 


    (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:
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase
     IPR010448 Torsin

    Graphical View of Domain Structure for InterPro Entry Q9NXH8

    ProtoNet protein and cluster: Q9NXH8

    UniProtKB/Swiss-Prot: TOR4A_HUMAN, Q9NXH8
    Similarity: Belongs to the ClpA/ClpB family. Torsin subfamily


    Find genes that share domains with TOR4A           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005524ATP binding IEA--
    GO:0017111nucleoside-triphosphatase activity IEA--
         
    Find genes that share ontologies with TOR4A           About GenesLikeMe


    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target TOR4A:
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    Block miRNA regulation of human, mouse, rat TOR4A using miScript Target Protectors
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    (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
    TOR4A_HUMAN, Q9NXH8: Membrane; Single-pass membrane protein (Potential)

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with TOR4A           About GenesLikeMe


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TOR4A
    Interactions:

        Search GeneGlobe Interaction Network for TOR4A

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

    2 Interacting proteins for TOR4A (ENSP000003501024) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    NAGLUENSP000002259274STRING: ENSP00000225927
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

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

    Find genes that share ontologies with TOR4A           About GenesLikeMe



    (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 TOR4A



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TOR4A gene: 
    NM_017723.2  

    Unigene Cluster for TOR4A:

    Torsin family 4, member A
    Hs.495541  [show with all ESTs]
    Unigene Representative Sequence: AK000252
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000357503(uc004cmn.3)
    miRNA
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TOR4A
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat TOR4A
      QuantiFast Probe-based Assays in human, mouse, rat TOR4A

    Additional mRNA sequence: 

    AK000252.1 AK000392.1 AK023361.1 

    2 DOTS entries:

    DT.429575  DT.100711089 

    Selected AceView cDNA sequences (see all 65):

    AI540176 BF002149 AI215491 BM831410 BM822651 AI343420 CB305651 AA375108 
    AI805162 AW592236 AK000252 AI720141 AI934307 AW300836 BG771002 AW204151 
    AK023361 AI698784 BG328504 BM850483 BQ224727 AI597732 NM_017723 BM796278 

    GeneLoc Exon Structure


    (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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    TOR4A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TOR4A Expression
    About this image


    TOR4A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Renal Collecting Duct System
     
     Epithelial Cells
             Outer Root Sheath Cells Outer Root Sheath
     
     Hair (Integumentary System)
             Outer Root Sheath Cells Outer Root Sheath
     
     Fibroblasts
             Dermal Fibroblasts Dorsal Dermis
     
     Dermis (Integumentary System)
             Dermal Fibroblasts Dorsal Dermis
    TOR4A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TOR4A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.495541
        Custom PCR Arrays for TOR4A
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOR4A

    (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 TOR4A gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tor4a1 , 5 RIKEN cDNA A830007P12 gene5
    torsin family 4, member A1
    74.84(n)1
    79.33(a)1
      2 (17.06 cM)5
    2276121  NM_146115.41  NP_666227.21 
     251929665 
    chicken
    (Gallus gallus)
    Aves C9ORF1671 chromosome 17 open reading frame, human C9orf167 61.13(n)
    53.06(a)
      417257  XM_004945789.1  XP_004945846.1 
    lizard
    (Anolis carolinensis)
    Reptilia TOR4A6
    torsin family 4, member A
    39(a)
    1 ↔ 1
    GL344348.1(7308-31924)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tor4a1 torsin family 4, member A 59.03(n)
    51.49(a)
      594988  NM_001030429.1  NP_001025600.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1018863111 torsin-4A-like 54.86(n)
    48.73(a)
      101886311  XM_005172597.1  XP_005172654.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Torsin6
    Torsin
    18(a)
    1 → many
    X(4542625-4543865)
    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)
    20(a)
    20(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    IV(13984251-13985693) WBGene00006597
    II(8993169-8994535) WBGene00003870


    ENSEMBL Gene Tree for TOR4A (if available)
    TreeFam Gene Tree for TOR4A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TOR4A gene
    TOR1A2  TOR2A2  TOR1B2  TOR3A2  

    Find genes that share paralogs with TOR4A           About GenesLikeMe



    (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 TOR4A (see all 139)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1171555621,2
    C,F--140170337(+) GGACCG/AAGGGC 1 -- us2k11Minor allele frequency- A:0.02NA 120
    rs1130258681,2
    F--140170350(+) AGGCAC/TGGGAG 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs736682341,2
    C,F--140170399(+) AGGAGA/GAGTGG 1 -- us2k14Minor allele frequency- G:0.08WA EA 242
    rs1485829981,2
    --140170415(+) CTGCCC/GACGGT 1 -- us2k10--------
    rs1163450111,2
    F--140170531(+) CTGGGC/TGCAGC 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1419701471,2
    --140170537(+) GCAGCA/GGCAGG 1 -- us2k10--------
    rs1506612341,2
    C--140170710(+) TTGGCC/GCAGGC 1 -- us2k10--------
    rs1871811171,2
    --140170780(+) TTCCTA/GCAGAG 1 -- us2k10--------
    rs715108041,2
    C,F--140170828(+) AGAAGC/TAGCTC 1 -- us2k12Minor allele frequency- T:0.50NA 4
    rs1446857721,2
    C--140170895(+) TCGGTC/TAGCCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TOR4A (140172201 - 140177093 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TOR4A: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TOR4A
    DNA2.0 Custom Variant and Variant Library Synthesis for TOR4A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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      --

    (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 TOR4A gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TOR4A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. Characterization of the EGFR interactome reveals associated protein complex networks and intracellular receptor dynamics. (PubMed id 23956138)1 Foerster S....Ritter C.A. (Proteomics 2013)
    3. Targeted ubiquitination and degradation of G-protein-coupled receptor kinase 5 by the DDB1-CUL4 ubiquitin ligase complex. (PubMed id 22952844)1 Wu Z....Ma L. (PLoS ONE 2012)
    4. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    5. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)
    6. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    7. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    8. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)2 Humphray S.J.... Dunham I. (Nature 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 54863 HGNC: 25981 AceView: FLJ20245 Ensembl:ENSG00000198113 euGenes: HUgn54863
    ECgene: TOR4A H-InvDB: TOR4A

    (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 TOR4A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TOR4A gene:
    Search GeneIP for patents involving TOR4A

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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