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

Gene ID: 30931, updated on 29-Oct-2022

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 several processes, including ER-associated misfolded protein catabolic process; 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, Apr 2022]
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)

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 ATP hydrolysis activity ISO
Inferred from Sequence Orthology
more info
 
enables ATP-dependent protein folding chaperone ISO
Inferred from Sequence Orthology
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 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
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: 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)