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

    Gene ID: 30931, updated on 9-Dec-2024

    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 AllianceGenome:MGI:1353568
    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
    Summary
    Enables cytoskeletal protein binding activity; identical protein binding activity; and misfolded protein binding activity. Involved in ERAD pathway; protein localization to nucleus; and wound healing, spreading of cells. Acts upstream of or within nuclear membrane organization. Located in endoplasmic reticulum lumen and nuclear envelope. Is expressed in several structures, including alimentary system; central nervous system; hemolymphoid system gland; liver; and urinary system. Used to study focal dystonia and torsion dystonia 1. Human ortholog(s) of this gene implicated in arthrogryposis multiplex congenita-5 and torsion dystonia 1. Orthologous to human TOR1A (torsin family 1 member A). [provided by Alliance of Genome Resources, Dec 2024]
    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 B; 2 21.77 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 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)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene prostaglandin E synthase Neighboring gene predicted gene, 52550 Neighboring gene predicted gene, 57831 Neighboring gene STARR-seq mESC enhancer starr_04126 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

    General gene information

    Clone Names

    • MGC18883

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding  
    enables ATP hydrolysis activity  
    enables ATP hydrolysis activity  
    enables ATP-dependent H2AZ histone chaperone activity  
    enables ATP-dependent H3-H4 histone complex chaperone activity  
    enables ATP-dependent protein folding chaperone  
    enables ATP-dependent protein folding chaperone  
    enables DNA clamp loader activity  
    enables chromatin extrusion motor activity  
    enables cohesin loader activity  
    enables cytoskeletal protein binding PubMed 
    enables cytoskeletal protein binding  
    enables identical protein binding PubMed 
    enables identical protein binding PubMed 
    enables identical protein binding  
    enables kinesin binding  
    enables kinesin binding  
    enables kinesin binding  
    enables misfolded protein binding PubMed 
    enables protein binding PubMed 
    Items 1 - 25 of 34
    Process Evidence Code Pubs
    involved_in ERAD pathway PubMed 
    involved_in cell adhesion  
    involved_in cell adhesion  
    involved_in chaperone cofactor-dependent protein refolding  
    involved_in chaperone-mediated protein folding  
    involved_in chaperone-mediated protein folding  
    involved_in chromatin looping  
    involved_in chromatin remodeling  
    involved_in intermediate filament cytoskeleton organization  
    involved_in intermediate filament cytoskeleton organization  
    involved_in neuron projection development  
    involved_in neuron projection development  
    acts_upstream_of_or_within nuclear envelope organization PubMed 
    involved_in nuclear membrane organization  
    acts_upstream_of_or_within nuclear membrane organization PubMed 
    acts_upstream_of_or_within nuclear membrane organization PubMed 
    involved_in organelle organization PubMed 
    involved_in positive regulation of synaptic vesicle endocytosis  
    involved_in positive regulation of synaptic vesicle endocytosis  
    involved_in protein deneddylation  
    involved_in protein deneddylation  
    involved_in protein localization to nucleus  
    involved_in protein localization to nucleus PubMed 
    involved_in protein localization to nucleus  
    involved_in regulation of dopamine uptake involved in synaptic transmission  
    involved_in regulation of dopamine uptake involved in synaptic transmission  
    acts_upstream_of_positive_effect regulation of protein localization to cell surface  
    involved_in response to oxidative stress  
    involved_in response to oxidative stress  
    involved_in synaptic vesicle membrane organization  
    involved_in synaptic vesicle membrane organization  
    involved_in synaptic vesicle transport  
    involved_in synaptic vesicle transport  
    involved_in wound healing, spreading of cells PubMed 
    Items 1 - 25 of 34
    Items 1 - 20 of 23
    Component Evidence Code Pubs
    located_in cytoplasm PubMed 
    located_in cytoplasmic vesicle membrane  
    located_in cytoskeleton  
    located_in endoplasmic reticulum PubMed 
    located_in endoplasmic reticulum  
    is_active_in endoplasmic reticulum lumen  
    located_in endoplasmic reticulum lumen PubMed 
    located_in endoplasmic reticulum lumen PubMed 
    located_in endoplasmic reticulum membrane  
    located_in endoplasmic reticulum membrane  
    located_in growth cone  
    located_in growth cone  
    located_in intracellular membrane-bounded organelle  
    located_in membrane  
    is_active_in nuclear envelope  
    located_in nuclear envelope PubMed 
    located_in nuclear membrane  
    located_in nuclear membrane  
    located_in nucleus PubMed 
    located_in secretory granule  
    located_in secretory granule  
    located_in synaptic vesicle  
    located_in synaptic vesicle  
    Items 1 - 20 of 23

    General protein information

    Preferred Names
    torsin-1A
    Names
    dystonia 1 protein
    torsin ATPase 1
    torsin family 1 member A
    NP_659133.1

    NCBI Reference Sequences (RefSeq)

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    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: GCF_000001635.27-RS_2024_02

    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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