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

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: human all
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Genomic context

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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Peripheral nerve injury elicits microstructural and neurochemical changes in the striatum and substantia nigra of a DYT-TOR1A mouse model with dystonia-like movements.
Title: Peripheral nerve injury elicits microstructural and neurochemical changes in the striatum and substantia nigra of a DYT-TOR1A mouse model with dystonia-like movements.
Cell-specific Dyt1 GAG knock-in to basal ganglia and cerebellum reveal differential effects on motor behavior and sensorimotor network function.
Title: Cell-specific Dyt1 ∆GAG knock-in to basal ganglia and cerebellum reveal differential effects on motor behavior and sensorimotor network function.
Pathophysiology of Dyt1-Tor1a dystonia in mice is mediated by spinal neural circuit dysfunction.
Title: Pathophysiology of Dyt1-Tor1a dystonia in mice is mediated by spinal neural circuit dysfunction.
In vivo optogenetic inhibition of striatal parvalbumin-reactive interneurons induced genotype-specific changes in neuronal activity without dystonic signs in male DYT1 knock-in mice.
Title: In vivo optogenetic inhibition of striatal parvalbumin-reactive interneurons induced genotype-specific changes in neuronal activity without dystonic signs in male DYT1 knock-in mice.
Alpha-Synuclein is Involved in DYT1 Dystonia Striatal Synaptic Dysfunction.
Title: Alpha-Synuclein is Involved in DYT1 Dystonia Striatal Synaptic Dysfunction.
DYT-TOR1A subcellular proteomics reveals selective vulnerability of the nuclear proteome to cell stress.
Title: DYT-TOR1A subcellular proteomics reveals selective vulnerability of the nuclear proteome to cell stress.
Characterization of the direct pathway in Dyt1 DeltaGAG heterozygous knock-in mice and dopamine receptor 1-expressing-cell-specific Dyt1 conditional knockout mice.
Title: Characterization of the direct pathway in Dyt1 ΔGAG heterozygous knock-in mice and dopamine receptor 1-expressing-cell-specific Dyt1 conditional knockout mice.
Inhibition of endoplasmic reticulum stress reverses synaptic plasticity deficits in striatum of DYT1 dystonia mice.
Title: Inhibition of endoplasmic reticulum stress reverses synaptic plasticity deficits in striatum of DYT1 dystonia mice.
Cell-intrinsic effects of TorsinA(DeltaE) disrupt dopamine release in a mouse model of TOR1A dystonia.
Title: Cell-intrinsic effects of TorsinA(ΔE) disrupt dopamine release in a mouse model of TOR1A dystonia.
Alteration of the cholinergic system and motor deficits in cholinergic neuron-specific Dyt1 knockout mice.
Title: Alteration of the cholinergic system and motor deficits in cholinergic neuron-specific Dyt1 knockout mice.

Submit: New GeneRIF Correction See all GeneRIFs (67)

Variation

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Alleles

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

Endonuclease-mediated (4) 1 citation
Targeted (12) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Tor1a (e-PCR), detects polymorphism
- UniSTS:498777

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 hydrolysis activity	ISS Inferred from Sequence or Structural Similarity more info
enables ATP-dependent H2AZ histone chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H3-H4 histone complex chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent protein folding chaperone	ISO Inferred from Sequence Orthology more info
enables ATP-dependent protein folding chaperone	ISS Inferred from Sequence or Structural Similarity more info
enables DNA clamp loader activity	IEA Inferred from Electronic Annotation more info
enables chromatin extrusion motor activity	IEA Inferred from Electronic Annotation more info
enables cohesin loader activity	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 identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info	PubMed
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables kinesin binding	IBA Inferred from Biological aspect of Ancestor more info
enables kinesin binding	IEA Inferred from Electronic Annotation more info
enables kinesin binding	ISO Inferred from Sequence Orthology more info
enables misfolded protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ERAD pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in cell adhesion	ISS Inferred from Sequence or Structural Similarity 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 chaperone-mediated protein folding	ISS Inferred from Sequence or Structural Similarity more info
involved_in chromatin looping	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in intermediate filament cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in intermediate filament cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in neuron projection development	ISS Inferred from Sequence or Structural Similarity 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
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 positive regulation of synaptic vesicle endocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein deneddylation	ISO Inferred from Sequence Orthology more info
involved_in protein deneddylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to nucleus	IBA Inferred from Biological aspect of Ancestor more info
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
involved_in regulation of dopamine uptake involved in synaptic transmission	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_positive_effect regulation of protein localization to cell surface	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to oxidative stress	IEA Inferred from Electronic Annotation 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 membrane organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic vesicle transport	ISO Inferred from Sequence Orthology more info
involved_in synaptic vesicle transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in wound healing, spreading of cells	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle membrane	IEA Inferred from Electronic Annotation 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
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 endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in growth cone	ISO Inferred from Sequence Orthology more info
located_in growth cone	ISS Inferred from Sequence or Structural Similarity 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
is_active_in nuclear envelope	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear membrane	IEA Inferred from Electronic Annotation more info
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 secretory granule	ISS Inferred from Sequence or Structural Similarity more info
located_in synaptic vesicle	ISO Inferred from Sequence Orthology more info
located_in synaptic vesicle	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: torsin-1A

Names: dystonia 1 protein; torsin ATPase 1; torsin family 1 member A

NP_659133.1

EC 3.6.4.-

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.