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

    Gene ID: 30931, updated on 22-Aug-2021

    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
    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
    t; To; DQ2; Dyt1; torsinA
    Expression
    Ubiquitous expression in duodenum adult (RPKM 31.6), ovary adult (RPKM 22.9) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Tor1a in Genome Data Viewer
    Location:
    2; 2 B
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (30850573..30857930, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 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_000068.8Genomic Context describing neighboring genes Neighboring gene prostaglandin E synthase Neighboring gene uncharacterized LOC118568508 Neighboring gene predicted gene, 52550 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 Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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

    NEW Try the new Transcript table

    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
      ENSMUSP00000028200.9, ENSMUST00000028200.9
      Conserved Domains (1) summary
      pfam06309
      Location:45170
      Torsin; Torsin

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      30850573..30857930 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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