Tor1a torsin family 1, member A [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Tor1aprovided by RGD
Official Full Name: torsin family 1, member Aprovided by RGD
Primary source: RGD:628863
See related: Ensembl:ENSRNOG00000006894 AllianceGenome:RGD:628863
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Dyt1
Summary: Enables kinesin binding activity. Involved in response to oxidative stress. Located in cytoplasmic vesicle and growth cone. 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: Biased expression in Liver (RPKM 89.6), Thymus (RPKM 82.0) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 3p12

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	3	NC_086021.1 (34648421..34655453, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	3	NC_051338.1 (14250667..14257704, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	3	NC_005102.4 (9800322..9807318, complement)

Chromosome 3 - NC_086021.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TorsinA was post-transcriptionally upregulated upon acute ER stress, suggesting a role in this response. Increased basal phosphorylation of eIF2alpha in DYT1 transgenic rats was associated with abnormal response to acute ER stress. Unbiased RNA-Seq-based transcriptomic analysis of embryonic brain tissue in heterozygous and homozygous DYT1 knockin mice confirmed presence of eIF2alpha dysregulation in the DYT1 brain.
Title: Exploring the Interaction Between eIF2α Dysregulation, Acute Endoplasmic Reticulum Stress and DYT1 Dystonia in the Mammalian Brain.
developed transgenic rat models for DYT1 dystonia harboring the full length human mutant and wildtype Tor1A gene.
Title: Generation of a novel rodent model for DYT1 dystonia.
These findings provide new insights into the pathogenic mechanism of torsinA DeltaE and torsinA Delta323-8 mutations in dystonia.
Title: TorsinA protein degradation and autophagy in DYT1 dystonia.
The striking induction of torsinA in astrocytes and satellite cells points to the potential involvement of glial elements in the pathobiology of DYT1 dystonia
Title: Glial elements contribute to stress-induced torsinA expression in the CNS and peripheral nervous system.
torsinA plays a role together with snapin in regulated exocytosis
Title: The dystonia-associated protein torsinA modulates synaptic vesicle recycling.
Ours are the first data to demonstrate the specific modulation of torsinA expression in the basal ganglia of the hyperkinesia model, suggesting that GPi neurons containing torsinA possess pathologic plasticity for LID.
Title: Modulation of torsinA expression in the globus pallidus internus is associated with levodopa-induced dyskinesia in hemiparkinsonian rats.
Mutant torsinA may interfere with and/or compromise ER functions, especially in dopaminergic neurons, which have high levels of torsinA and are intrinsically vulnerable to oxidative stress.
Title: TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stress.
wild-type torsinA undergoes anterograde transport along microtubules mediated by kinesin and may act as a molecular chaperone regulating kinesin activity and/or cargo binding
Title: The early onset dystonia protein torsinA interacts with kinesin light chain 1.

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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 RGD

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 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 cytoskeletal protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
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	IDA Inferred from Direct Assay more info	PubMed
enables kinesin binding	IPI Inferred from Physical Interaction more info	PubMed
enables kinesin binding	ISO Inferred from Sequence Orthology more info
enables misfolded protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ERAD pathway	ISO Inferred from Sequence Orthology more info
involved_in ERAD pathway	ISS Inferred from Sequence or Structural Similarity more info
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 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	ISO Inferred from Sequence Orthology more info
involved_in nuclear envelope organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in nuclear membrane organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within nuclear membrane organization	ISO Inferred from Sequence Orthology more info
involved_in nuclear membrane organization	ISS Inferred from Sequence or Structural Similarity more info
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	ISO Inferred from Sequence Orthology more info
involved_in protein localization to nucleus	ISS Inferred from Sequence or Structural Similarity 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	ISO Inferred from Sequence Orthology 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	IDA Inferred from Direct Assay more info	PubMed
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	ISO Inferred from Sequence Orthology more info
involved_in wound healing, spreading of cells	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle membrane	IEA Inferred from Electronic Annotation more info
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	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum lumen	ISS Inferred from Sequence or Structural Similarity more info
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	IDA Inferred from Direct Assay more info	PubMed
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	ISO Inferred from Sequence Orthology more info
located_in nuclear envelope	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear inner membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in secretory granule	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic vesicle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: torsin-1A

Names: dystonia 1 protein; dystonia 1, torsion (autosomal dominant; dystonia 1, torsion (autosomal dominant; torsin A); torsin A; torsin ATPase 1

NP_695215.2

EC 3.6.4.-

XP_038960324.1

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.