TOR1A torsin family 1 member A [Homo sapiens (human)] - Gene

Summary

Official Symbol: TOR1Aprovided by HGNC
Official Full Name: torsin family 1 member Aprovided by HGNC
Primary source: HGNC:HGNC:3098
See related: Ensembl:ENSG00000136827 MIM:605204; AllianceGenome:HGNC:3098
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DQ2; AMC5; DYT1
Summary: The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 14.8), urinary bladder (RPKM 12.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.11

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (129812942..129824136, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (142017521..142028703, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (132575221..132586415, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RANBP17 Overexpression Restores Nucleocytoplasmic Transport and Ameliorates Neurodevelopment in Induced DYT1 Dystonia Motor Neurons.
Title: RANBP17 Overexpression Restores Nucleocytoplasmic Transport and Ameliorates Neurodevelopment in Induced DYT1 Dystonia Motor Neurons.
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.
Neuroimaging findings in DYT1 dystonia and the pathophysiological implication: A systematic review.
Title: Neuroimaging findings in DYT1 dystonia and the pathophysiological implication: A systematic review.
TOR1A mutation-related isolated childhood-onset generalised dystonia in South Africa.
Title: TOR1A mutation-related isolated childhood-onset generalised dystonia in South Africa.
The evolution of dystonia-like movements in TOR1A rats after transient nerve injury is accompanied by dopaminergic dysregulation and abnormal oscillatory activity of a central motor network.
Title: The evolution of dystonia-like movements in TOR1A rats after transient nerve injury is accompanied by dopaminergic dysregulation and abnormal oscillatory activity of a central motor network.
Association of TOR1A and GCH1 Polymorphisms with Isolated Dystonia in India.
Title: Association of TOR1A and GCH1 Polymorphisms with Isolated Dystonia in India.
Cellular analysis of a novel mutation p. Ser287Tyr in TOR1A in late-onset isolated dystonia.
Title: Cellular analysis of a novel mutation p. Ser287Tyr in TOR1A in late-onset isolated dystonia.
Torsin ATPases influence chromatin interaction of the Torsin regulator LAP1.
Title: Torsin ATPases influence chromatin interaction of the Torsin regulator LAP1.
Torsin ATPase deficiency leads to defects in nuclear pore biogenesis and sequestration of MLF2.
Title: Torsin ATPase deficiency leads to defects in nuclear pore biogenesis and sequestration of MLF2.
Impaired differentiation of human induced neural stem cells by TOR1A overexpression.
Title: Impaired differentiation of human induced neural stem cells by TOR1A overexpression.

Submit: New GeneRIF Correction See all GeneRIFs (154)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Arthrogryposis multiplex congenita 5 MedGen: C5436453 OMIM: 618947 GeneReviews: Not available	Compare labs
Early-onset generalized limb-onset dystonia MedGen: C1851945 OMIM: 128100 GeneReviews: Hereditary Dystonia Overview, DYT1 Early-Onset Isolated Dystonia	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 is identified to have a physical interaction with torsin family 1, member A (TOR1A) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 interacts with TOR1A; predicted interaction to be within the endoplasmic reticulum	PubMed

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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

D8S2279 (e-PCR)
- UniSTS:473907

G60041 (e-PCR)
- UniSTS:137305

D15S1477 (e-PCR)
- UniSTS:474482

SHGC-36186 (e-PCR)
- UniSTS:74431

RH104434 (e-PCR)
- UniSTS:98759

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IDA Inferred from Direct Assay more info	PubMed
enables ATP-dependent protein folding chaperone	IDA Inferred from Direct Assay more info	PubMed
enables ATP-dependent protein folding chaperone	IMP Inferred from Mutant Phenotype more info	PubMed
enables cytoskeletal protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables kinesin binding	IBA Inferred from Biological aspect of Ancestor more info
enables kinesin binding	IPI Inferred from Physical Interaction more info	PubMed
enables misfolded protein binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables unfolded protein binding	TAS Traceable Author Statement more info	PubMed

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

Component	Evidence Code	Pubs
located_in cytoplasmic vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
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 membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in growth cone	ISS Inferred from Sequence or Structural Similarity more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in nuclear envelope	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear envelope	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info
located_in secretory granule	ISS Inferred from Sequence or Structural Similarity more info
located_in synaptic vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: torsin-1A

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

NP_000104.1

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.