1. Gene
  2. TOR1A - torsin family 1 member A Gene

TOR1A - torsin family 1 member A Gene

Homo sapiens

Also known as DQ2; AMC5; DYT1

Gene ID: 1861 | Gene type: protein coding

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

TOR1A Protein Structure

Torsin

Torsin: Torsin (44 - 169)

  • 0
  • 100
  • 200
  • 300
  • 332 a.a.
Protein Preferred Names Protein Names

torsin-1A

dystonia 1 protein

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

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