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    Tor1a torsin family 1, member A (torsin A) [ Mus musculus (house mouse) ]

    Gene ID: 30931, updated on 11-Nov-2018

    Summary

    Official Symbol
    Tor1aprovided by MGI
    Official Full Name
    torsin family 1, member A (torsin A)provided by MGI
    Primary source
    MGI:MGI:1353568
    See related
    Ensembl:ENSMUSG00000026849 Vega:OTTMUSG00000011870
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    DQ2; Dyt1; torsinA
    Expression
    Ubiquitous expression in duodenum adult (RPKM 31.6), ovary adult (RPKM 22.9) and 28 other tissues See more
    Orthologs

    Genomic context

    See Tor1a in Genome Data Viewer
    Location:
    2; 2 B
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 2 NC_000068.7 (30960561..30967918, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 2 NC_000068.6 (30816081..30823438, complement)

    Chromosome 2 - NC_000068.7Genomic Context describing neighboring genes Neighboring gene prostaglandin E synthase Neighboring gene predicted gene, 39785 Neighboring gene peptidylprolyl isomerase A pseudogene 2_387.1 Neighboring gene torsin family 1, member B Neighboring gene cDNA sequence BC005624 Neighboring gene ubiquitin specific peptidase 20 Neighboring gene predicted gene, 39786

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (9)  1 citation
    • Endonuclease-mediated (1) 

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC18883

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity ISO
    Inferred from Sequence Orthology
    more info
     
    cytoskeletal protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    cytoskeletal protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    kinesin binding ISO
    Inferred from Sequence Orthology
    more info
     
    misfolded protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    unfolded protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    ER-associated misfolded protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    chaperone cofactor-dependent protein refolding IEA
    Inferred from Electronic Annotation
    more info
     
    chaperone-mediated protein folding ISO
    Inferred from Sequence Orthology
    more info
     
    chaperone-mediated protein transport ISO
    Inferred from Sequence Orthology
    more info
     
    intermediate filament cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
     
    neuron projection development ISO
    Inferred from Sequence Orthology
    more info
     
    nuclear envelope organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nuclear membrane organization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    nuclear membrane organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    organelle organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of synaptic vesicle endocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    protein deneddylation ISO
    Inferred from Sequence Orthology
    more info
     
    protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homooligomerization ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    protein localization to nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein localization to nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of dopamine uptake involved in synaptic transmission ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of protein localization to cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    response to oxidative stress ISO
    Inferred from Sequence Orthology
    more info
     
    synaptic vesicle transport ISO
    Inferred from Sequence Orthology
    more info
     
    wound healing, spreading of cells IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasmic vesicle membrane ISO
    Inferred from Sequence Orthology
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    endoplasmic reticulum lumen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum lumen ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    extrinsic component of endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
     
    growth cone ISO
    Inferred from Sequence Orthology
    more info
     
    intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    membrane ISO
    Inferred from Sequence Orthology
    more info
     
    neuron projection ISO
    Inferred from Sequence Orthology
    more info
     
    nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear membrane ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    secretory granule ISO
    Inferred from Sequence Orthology
    more info
     
    synapse IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic vesicle ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    torsin-1A
    Names
    dystonia 1 protein
    torsin ATPase 1
    torsin family 1 member A

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_144884.2NP_659133.1  torsin-1A precursor

      See identical proteins and their annotated locations for NP_659133.1

      Status: VALIDATED

      Source sequence(s)
      AK038891, AK160361, AL844532, BY724297
      Consensus CDS
      CCDS15891.1
      UniProtKB/Swiss-Prot
      Q9ER39
      UniProtKB/TrEMBL
      Q3TV62
      Related
      ENSMUSP00000028200.8, OTTMUSP00000012685, ENSMUST00000028200.8, OTTMUST00000027950
      Conserved Domains (1) summary
      pfam06309
      Location:45170
      Torsin; Torsin

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000068.7 Reference GRCm38.p4 C57BL/6J

      Range
      30960561..30967918 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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