Tor1a - torsin family 1, member A (torsin A) Gene

Mus musculus

Also known as DQ2; Dyt1; torsinA

Gene ID: 30931 | Gene type: protein coding

About Tor1a

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]

Tor1a Products(1)

mRNA	Protein	Name
NM_144884.2	NP_659133.1	torsin-1A precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables cytoskeletal protein binding	IPI IPI: Inferred from physical interaction	18827015	MGI
enables identical protein binding	IPI IPI: Inferred from physical interaction	20015956	MGI
enables misfolded protein binding	IPI IPI: Inferred from physical interaction	17200151	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	15767459	MGI

Biological Process GO Annotation	Evidence	Reference	Source
involved in ERAD pathway	IDA IDA: Inferred from direct assay	17200151	MGI
acts upstream of or within nuclear envelope organization	IMP IMP: Inferred from mutant phenotype	16364897	MGI
acts upstream of or within nuclear membrane organization	IGI IGI: Inferred from genetic interaction	20457914	MGI
acts upstream of or within nuclear membrane organization	IMP IMP: Inferred from mutant phenotype	20080676	MGI
involved in organelle organization	IMP IMP: Inferred from mutant phenotype	18827015	MGI
involved in protein localization to nucleus	IMP IMP: Inferred from mutant phenotype	18827015	MGI
involved in wound healing, spreading of cells	IMP IMP: Inferred from mutant phenotype	18827015	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	11730696	MGI
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	15767459	MGI
located in endoplasmic reticulum lumen	IDA IDA: Inferred from direct assay	20015956	MGI
located in nuclear envelope	IDA IDA: Inferred from direct assay	20457914	MGI
located in nucleus	IDA IDA: Inferred from direct assay	11730696	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

torsin-1A

dystonia 1 protein	torsin ATPase 1
torsin family 1 member A

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14903	TOR1A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22872	Tor1a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29386	Tor1a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Tor1a	NCBI	NCBI:1861

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