TOR1A - torsin family 1 member A Gene

Also Known as DQ2; AMC5; DYT1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1861

About TOR1A

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:129,812,942-129,824,136 (from NCBI)

This gene has 5 transcripts (splice variants), 264 orthologues, 4 paralogues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 14.8), urinary bladder (RPKM 12.7) and 25 other tissues.

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]

TOR1A Products (1)

mRNA	Protein	Name
NM_000113.3	NP_000104.1	torsin-1A precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables ATP hydrolysis activity	IDA IDA: Inferred from direct assay	23569223	GOA
enables ATP-dependent protein folding chaperone	IDA IDA: Inferred from direct assay	15505207	GOA
enables ATP-dependent protein folding chaperone	IMP IMP: Inferred from mutant phenotype	24930953	GOA
enables cytoskeletal protein binding	IPI IPI: Inferred from physical interaction	16361107	GOA
enables identical protein binding	IMP IMP: Inferred from mutant phenotype	24930953	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	20015956	GOA
enables kinesin binding	IPI IPI: Inferred from physical interaction	14970196	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15147511	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in cell adhesion	IMP IMP: Inferred from mutant phenotype	16361107	GOA
involved in chaperone-mediated protein folding	IDA IDA: Inferred from direct assay	20169475	GOA
involved in intermediate filament cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	16361107	GOA
involved in neuron projection development	IMP IMP: Inferred from mutant phenotype	16361107	GOA
involved in positive regulation of synaptic vesicle endocytosis	IMP IMP: Inferred from mutant phenotype	21102408	GOA
involved in protein deneddylation	IMP IMP: Inferred from mutant phenotype	21102408	GOA
involved in protein localization to nucleus	IMP IMP: Inferred from mutant phenotype	18827015	GOA
involved in regulation of dopamine uptake involved in synaptic transmission	IDA IDA: Inferred from direct assay	15505207	GOA
acts upstream of positive effect regulation of protein localization to cell surface	IMP IMP: Inferred from mutant phenotype	15505207	GOA
involved in synaptic vesicle membrane organization	IMP IMP: Inferred from mutant phenotype	24930953	GOA
involved in synaptic vesicle transport	IMP IMP: Inferred from mutant phenotype	18167355	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	12671990	GOA
located in endoplasmic reticulum lumen	IDA IDA: Inferred from direct assay	17037984	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	17037984	GOA
located in membrane	IDA IDA: Inferred from direct assay	23569223	GOA
located in synaptic vesicle	IDA IDA: Inferred from direct assay	21102408	GOA

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

TOR1A Protein Structure

Torsin

0
100
200
300
332 a.a.

Protein Preferred Names	Protein Names
torsin-1A	dystonia 1 protein

TOR1A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	TOR1A	O14656	KRTAP10-7	Homo sapiens	P60409	Validated Y2H	25910212
Intra	TOR1A	O14656	KRTAP10-7	Homo sapiens	P60409	Y2H Bait-Prey Pool	25910212
Intra	TOR1A	O14656	KRTAP10-7	Homo sapiens	P60409	Y2H Array	25910212
Intra	TOR1A	O14656	KRTAP10-7	Homo sapiens	P60409	Y2H Array	25416956
Intra	TOR1A	O14656	TOR1AIP1	Homo sapiens	Q5JTV8	Anti Bait CoIP	23569223
Intra	TOR1A	O14656	TOR1AIP1	Homo sapiens	Q5JTV8	ATPase Assay	23569223
Intra	TOR1A	O14656	TOR1AIP1	Homo sapiens	Q5JTV8	GMS	23569223
Intra	TOR1A	O14656	TOR1AIP2	Homo sapiens	Q8NFQ8	Anti Bait CoIP	23569223
Intra	TOR1A	O14656	TOR1AIP2	Homo sapiens	Q8NFQ8	ATPase Assay	23569223
Intra	TOR1A	O14656	TOR1AIP2	Homo sapiens	Q8NFQ8	Anti Tag CoIP	33961781
Intra	TOR1A	O14656	TOR1AIP2	Homo sapiens	Q8NFQ8	GMS	23569223
Intra	TOR1A	O14656	TOR1AIP2	Homo sapiens	Q8NFQ8	Anti Tag CoIP	15767459
Intra	TOR1A	O14656	MDFI	Homo sapiens	Q99750	Validated Y2H	32296183
Intra	TOR1A	O14656	MDFI	Homo sapiens	Q99750	Y2H Array	32296183
Intra	TOR1A	O14656	MDFI	Homo sapiens	Q99750	Y2H Prey Pooling	32296183
Intra	TOR1A	O14656	APP	Homo sapiens	P05067	Y2H Array	32814053
Intra	TOR1A	O14656	APP	Homo sapiens	P05067	Y2H Pooling	32814053
Intra	TOR1A	O14656	APP	Homo sapiens	P05067	Validated Y2H	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

TOR1A Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P83190	Torsin 1A Antibody (YA2935)	WB, FC	Human

Related Diseases

Diseases	Alias
Arthrogryposis Multiplex Congenita 5	AMC5 Arthrogryposis Multiplex Congenita-5
Dystonia 1, Torsion, Autosomal Dominant	Dystonia Musculorum Deformans 1 Dystonia Musculorum Deformans DYT1 Early-Onset Torsion Dystonia Eotd Dystonia-1, Torsion Torsion Dystonia 1 Autosomal Dominant Torsion Dystonia 1 Dystonia-1 Oppenheim'S Dystonia Oppenheim-Ziehen Disease Early Onset Torsion Dystonia Dystonia 3, Torsion, X-Linked
Early-Onset Generalized Limb-Onset Dystonia	Dystonia Musculorum Deformans Eotd Early-Onset Generalized Torsion Dystonia Early-Onset Isolated Dystonia Early-Onset Primary Dystonia Early-Onset Torsion Dystonia Idiopathic Torsion Dystonia Oppenheim Dystonia Dystonia 1, Torsion, Autosomal Dominant Early Onset Torsion Dystonia Dystonia 3, Torsion, X-Linked
Dyt1 Early-Onset Isolated Dystonia	Oppenheim'S Dystonia Early-Onset Torsion Dystonia Dystonia 1, Torsion, Autosomal Dominant Early Onset Torsion Dystonia Dyt-Tor1a Dyt-Tor1a Dystonia Dyt1 Dystonia 1 Dystonia Musculorum Deformans 1 Eotd Early-Onset Generalized Dystonia Early-Onset Primary Dystonia Idiopathic Dystonia Dyt1 Idiopathic Torsion Dystonia Dystonia Musculorum Deformans
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Focal Dystonia	Dystonia, Focal, Task-Specific
Dystonia 11, Myoclonic	Myoclonic Dystonia Myoclonus-Dystonia Syndrome DYT11 Myoclonic Dystonia 11 Alcohol-Responsive Dystonia Myoclonus, Hereditary Essential Dystonia-11, Myoclonic Myoclonus-Dystonia Dystonia 11 Hereditary Essential Myoclonus Dystonia, Alcohol-Responsive Dyt-Sgce Dystonia, Alcohol Responsive Dystonia-11 Dystonia, Myoclonic Dystonia, Myoclonic, Type 11
Blepharospasm
Tropical Sprue	Tropical Steatorrhea Tropical Enteropathy Sprue, Tropical Sprue - Tropical Idiopathic Tropical Malabsorption Syndrome Tropical Steatorrhoea Tropical Diarrhoea Ts - [Tropical Sprue] Psilosis Sprue Nos
Dystonia 12	DYT12 Rdp Generalized Dystonia Dystonia-12 Rapid-Onset Dystonia-Parkinsonism Familial Dystonia Dystonia Musculorum Deformans Dystonic Disorders Idiopathic Familial Dystonia Dystonia-Parkinsonism, Rapid-Onset Fragments Of Torsion Dystonia Dyt-Atp1a3 Rapid-Onset Dystonia Parkinsonism Rodp Dystonia, Type 12 Dystonia 3, Torsion, X-Linked Idiopathic Non-Familial Dystonia Symptomatic Torsion Dystonia Dystonia Disorders
Cranio-Facial Dystonia	Craniofacial Dystonia
Movement Disease	Movement Disorders Movement Disorder
Jejunoileitis
Segmental Dystonia
Wheat Allergy	Wheat Allergic Reaction Wheat Hypersensitivity Allergy To Wheat Allergy Wheat
Focal Hand Dystonia	Organic Writer'S Cramp Dystonia, Focal, Task-Specific
Multifocal Dystonia
Hemidystonia
Cervical Dystonia	Spasmodic Torticollis
Vulvar Seborrheic Keratosis	Seborrheic Keratosis Of Vulva
Spasmodic Dystonia	Laryngeal Dystonia
Autoimmune Disease Of Gastrointestinal Tract
Oromandibular Dystonia
Gluten Allergy	Allergy To Gluten Gluten Allergic Reaction
Hereditary Lymphedema Ii	Meige Syndrome Meige Disease Meige Lymphedema Hereditary Lymphedema Type Ii Lymphedema Hereditary Type 2 Lymphedema Praecox Lymphedema, Hereditary, Ii Blepharospasm-Oromandibular Dystonia Syndrome Meige Dystonia Meige'S Syndrome Late-Onset Lymphedema Lmph2 Lymphedema Preacox Lymphedema, Late-Onset Blepharospasm - Oromandibular Dystonia Blepharospasm-Oromandibular Dystonia Brueghel Syndrome Idiopathic Blepharospasm-Oromandibular Dystonia Syndrome Oral Facial Dystonia Segmental Cranial Dystonia Meigs Syndrome
Torticollis	Contracture Of Neck Wry Neck Wry Neck/Torticollis
Lymphocytic Colitis	Colitis, Lymphocytic
Microscopic Colitis	Colitis, Microscopic
Lymphocytic Gastritis
Lymphatic Malformation 5	Meige Syndrome Meige Disease Meige Lymphedema Lymphedema Praecox Lymphedema, Late-Onset Late-Onset Lymphedema LMPH2 Meigs Syndrome LMPHM5 Lymphedema, Hereditary, Ii, Formerly Lmph2, Formerly Hereditary Lymphedema Ii Demons-Meigs Syndrome Hereditary Lymphedema Type Ii Lymphedema, Hereditary, 2 Lymphedema, Hereditary, Ii Meige'S Disease
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Parkinsonism	Parkinsonism-Plus Idiopathic Parkinsonism Primary Parkinsonism Paralysis Agitans Syndrome Parkinsonian Syndrome Trembling Paralysis Paralysis Agitans Shaking Palsy Shaking Paralysis
Immunoglobulin Alpha Deficiency	Iga Deficiency Gamma-A-Globulin Deficiency Immunoglobulin A Deficiency
Collagenous Colitis	Colitis, Collagenous Microscopic Colitis, Collagenous Type
Congenital Contractures	Congenital Contracture
Whipple Disease	Intestinal Lipodystrophy Whipple'S Disease Intestinal Lipophagic Granulomatosis Secondary Non-Tropical Sprue Tropheryma Whippelii Infection Whipples Disease
Mooren'S Ulcer	Mooren Ulcer Moorens Ulcer
Type 1 Diabetes Mellitus 5	Diabetes Mellitus, Insulin-Dependent, 5 Latent Autoimmune Diabetes In Adults IDDM5 Insulin-Dependent Diabetes Mellitus 5 T1D5 Lada Type 1.5 Diabetes Diabetes Mellitus, Insulin-Dependent, Type 5
Dystonia 3, Torsion, X-Linked	X-Linked Dystonia-Parkinsonism DYT3 Xdp Lubag Dystonia-Parkinsonism, X-Linked Torsion Dystonia-Parkinsonism, Filipino Type Dyt-Taf1 X-Linked Dystonia-Parkinsonism Syndrome X-Linked Torsion Dystonia-Parkinsonism Syndrome Dystonia Musculorum Deformans X-Linked Dystonia-Parkinsonism/Lubag Lubag Syndrome Dystonia-3 Torsion Dystonia-Parkinsonism Filipino Type X-Linked Torsion Dystonia 3 Dystonia, Torsion, X-Linked, Type 3
Duodenitis	Hemorrhagic Duodenitis Acute Enteritis Of The Mouse Intestinal Tract Nonspecific Duodenitis Inflammation Of Duodenum Dodecadactylitis Duodenal Inflammation Peptic Duodenitis
Adrenal Cortical Hypofunction	Adrenal Cortical Insufficiency Corticoadrenal Insufficiency
Giardiasis	Beaver Feaver Infection By Giardia Lamblia Lambliasis Giardia Lamblia Dysentery Giardial Diarrhoea Lamblia Dysentery Giardia Duodenalis Dysentery Giardia Intestinalis Dysentery
Celiac Disease 1	Celiac Disease Coeliac Disease Celiac Sprue Celiac Disease, Susceptibility To Gluten-Sensitive Enteropathy Nontropical Sprue Sprue CELIAC1 Celiac Disease, Susceptibility To, 1 Celiac Sprue 1 Celiac Sprue, Susceptibility To, 1 Gluten-Sensitive Enteropathy 1 Gluten-Sensitive Enteropathy, Susceptibility To, 1 Idiopathic Steatorrhea Cœliac Disease Gluten Intolerance Gluten-Induced Enteropathy Gluten Enteropathy Celiac Disease, Susceptibility To, Type 1 Childhood Celiac Disease Coeliac Rickets Gee Disease Gee-Herter Disease Heubner-Herter Disease Idiopathic Steatorrhoea Thaysen'S Disease Herter Gee Syndrome
Obsessive-Compulsive Disorder	OCD Obsessive-Compulsive Disorder, Susceptibility To Anancastic Neurosis Obsessive Compulsive Disorder Anankastic Neurosis Obsessive-Compulsive Neurosis Obsessive Compulsive Behavior
Lactose Intolerance	Lactose Malabsorption Lm - Lactose Malabsorption Alactasia Dairy Product Intolerance Hypolactasia Milk Sugar Intolerance Cow Milk Enteropathy Intolerance Or Malabsorption Of Lactose Lm - [Lactose Malabsorption] Milk Intolerance
Immunoglobulin A Deficiency 1	Immunoglobulin A Deficiency Selective Iga Deficiency Disease Selective Immunoglobulin A Deficiency IGAD1 Immunoglobulin A, Selective Deficiency Of Iga, Selective Deficiency Of Gamma-A-Globulin, Selective Deficiency Of Selective Iga Immunodeficiency Selective Iga Deficiency Iga Deficiency Selective
Dystonia 25	DYT25 Dystonia-25 Dystonia, Type 25
Torsion Dystonia 2	Dystonia 2, Torsion, Autosomal Recessive
Small Intestine Lymphoma	Small Intestinal Lymphoma
Small Intestine Adenocarcinoma	Small Intestinal Adenocarcinoma Adenocarcinoma Of Small Intestine Adenocarcinoma Of The Small Bowel Adenocarcinoma Of Small Bowel Adenocarcinoma Of Small Instestine Adenocarcinoma Of The Small Instestine Small Bowel Adenocarcinoma Adenocarcinoma Of The Small Intestine
Autoimmune Disease Of Endocrine System
Neurodegeneration With Brain Iron Accumulation 1	Pantothenate Kinase-Associated Neurodegeneration Pkan NBIA1 Hallervorden-Spatz Disease Hallervorden-Spatz Syndrome Pigmentary Pallidal Degeneration Neuroaxonal Dystrophy, Late Infantile Neurodegeneration With Brain Iron Accumulation Type 1 Classic Pantothenate Kinase-Associated Neurodegeneration Pkan Neuroaxonal Dystrophy, Juvenile-Onset Brain Iron Accumulation Type I Syndrome Nbia Neurodegeneration With Brain Iron Accumulation Nbia1, Classic Form Neurodegeneration With Brain Iron Accumulation Type 1, Classic Form Pkan, Classic Form Atypical Pantothenate Kinase-Associated Neurodegeneration Nbia1, Atypical Form Neurodegeneration With Brain Iron Accumulation Type 1, Atypical Form Pkan, Atypical Form Hss Pkan Neuroaxonal Dystrophy Juvenile-Onset Neurodegeneration, With Brain Iron Accumulation, Type 1
Bullous Skin Disease	Skin Diseases Bullous Skin Diseases, Bullous
Dystonia, Dopa-Responsive	Dystonia 5 Dopa-Responsive Dystonia DRD Dyt5 Dystonia-Parkinsonism With Diurnal Fluctuation Dyt-Th Hpd With Diurnal Fluctuation Hereditary Progressive Dystonia With Diurnal Fluctuation Dystonia, Progressive, With Diurnal Variation Segawa Syndrome, Autosomal Dominant Dystonia, Dopa-Responsive, Autosomal Dominant Dopa-Responsive Dystonia, Autosomal Dominant Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia Dyt-Gch1 Dyt-Spr Dystonia 5, Dopa-Responsive Type Hereditary Progressive Dystonia With Marked Diurnal Fluctuation Autosomal Dominant Dopa-Responsive Dystonia Autosomal Dominant Segawa Syndrome Dystonia-5 Progressive Dystonia With Diurnal Fluctuation Dystonia, Type 5, Dopa-Responsive Type
Selective Immunoglobulin Deficiency Disease
Malt Worker'S Lung	Alveolitis Due To Aspergillus Clavatus Malt Worker Lung Malt Workers' Lung Malt-Workers' Lung Malt Fever Malt House Workers' Cough Malt-Workers' Alveolitis Malt-Workers' Lung Disease Alveolitis Due To Aspergillus Fumigatus Extrinsic Allergic Alveolitis Due To Aspergillus Spp
B Cell Deficiency	Immunoglobulin Heavy Chain Deficiency B Cell Deficiencies Immunoglobulin Heavy Chain Deletion Humoral Immune Defect
Dysgammaglobulinemia
Pernicious Anemia	Anemia, Pernicious Anemia Pernicious Pernicious Anaemia Addison'S Anaemia Biermer'S Anaemia Biermer'S Anemia Acquired Pernicious Anemia Addison-Biermer Anemia Addisonian Anemia Biermer Anemia Biermer'S Disease Juvenile Onset Pernicious Anemia Biermer Disease Biermer-Addison Disease
Squamous Papillomatosis
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed
Type 1 Diabetes Mellitus 2	Diabetes Mellitus, Noninsulin-Dependent, 1 Diabetes Mellitus, Insulin-Dependent, 2 IDDM2 Insulin-Dependent Diabetes Mellitus 2 NIDDM1 Diabetes Mellitus, Noninsulin-Dependent 1 T1D2 Type 2 Diabetes Mellitus 1 T2D1 Noninsulin-Dependent Diabetes Mellitus 1 Diabetes Mellitus, Non-Insulin-Dependent, 1 Type 2 Diabetes Mellitus 1, Susceptibility To Diabetes Mellitus, Insulin-Dependent, Type 2 Diabetes Mellitus, Non-Insulin-Dependent
Adrenal Cortex Disease	Adrenal Cortex Diseases
Choreatic Disease	Chorea Hereditary Chorea
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Alternating Hemiplegia Of Childhood	Alternating Hemiplegia Ahc Alternating Hemiplegia Syndrome Hemiplegia, Alternating, Of Childhood Hemiplegia, Crossed
Neurodegeneration With Brain Iron Accumulation	Nbia Neurodegeneration With Brain Iron Accumulation Disorders Neurodegeneration, With Brain Iron Accumulation
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Constipation
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	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
Mus musculus	TOR1A	MGD	MGI:1353568
Felis catus	TOR1A	VGNC	VGNC:66454
Bos taurus	TOR1A	VGNC	VGNC:36223
Rattus norvegicus	TOR1A	RGD	RGD:628863
Canis familiaris	TOR1A	VGNC	VGNC:47713
Others	TOR1A	NCBI