Showing entry for Torsin-1A


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT004080
Protein NameTorsin-1A
Uniport IdO14656
GeneTOR1A
Gene Id1861
DomainTorsin
Pfam PF06309  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0007155 cell adhesion
Biological Process GO:0051085 chaperone cofactor-dependent protein refolding
Biological Process GO:0061077 chaperone-mediated protein folding
Biological Process GO:0072321 chaperone-mediated protein transport
Biological Process GO:0071712 ER-associated misfolded protein catabolic process
Biological Process GO:0045104 intermediate filament cytoskeleton organization
Biological Process GO:0031175 neuron projection development
Biological Process GO:0006998 nuclear envelope organization
Biological Process GO:0071763 nuclear membrane organization
Biological Process GO:0006996 organelle organization
Biological Process GO:1900244 positive regulation of synaptic vesicle endocytosis
Biological Process GO:0000338 protein deneddylation
Biological Process GO:0034504 protein localization to nucleus
Biological Process GO:0051584 regulation of dopamine uptake involved in synaptic transmission
Biological Process GO:2000008 regulation of protein localization to cell surface
Biological Process GO:0006979 response to oxidative stress
Biological Process GO:0048489 synaptic vesicle transport
Biological Process GO:0044319 wound healing, spreading of cells
molecular function GO:0016887 ATPase activity
molecular function GO:0005524 ATP binding
molecular function GO:0008092 cytoskeletal protein binding
molecular function GO:0042802 identical protein binding
molecular function GO:0019894 kinesin binding
molecular function GO:0051787 misfolded protein binding
molecular function GO:0051082 unfolded protein binding
cellular component GO:0030659 cytoplasmic vesicle membrane
cellular component GO:0005856 cytoskeleton
cellular component GO:0005829 cytosol
cellular component GO:0005783 endoplasmic reticulum
cellular component GO:0005788 endoplasmic reticulum lumen
cellular component GO:0070062 extracellular exosome
cellular component GO:0042406 extrinsic component of endoplasmic reticulum membrane
cellular component GO:0030426 growth cone
cellular component GO:0043231 intracellular membrane-bounded organelle
cellular component GO:0016020 membrane
cellular component GO:0005635 nuclear envelope
cellular component GO:0031965 nuclear membrane
cellular component GO:0030141 secretory granule
cellular component GO:0008021 synaptic vesicle
Reactome
Pathway Id Pathway Name
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0003467 BXGD000194 Anxiety Behavior and Behavior Mechanisms
C0003886 BXGD000238 Arthrogryposis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0005747 BXGD000332 Blepharospasm Eye Diseases
C0007570 BXGD000467 Celiac Disease Digestive System Diseases; Nutritional and Metabolic Diseases
C0007682 BXGD000471 CNS disorder Nervous System Diseases
C0009241 BXGD000595 Cognition Disorders Mental Disorders
C0009917 BXGD000635 Contracture Musculoskeletal Diseases
C0011581 BXGD000733 Depressive disorder Mental Disorders
C0011849 BXGD000751 Diabetes Mellitus Nutritional and Metabolic Diseases; Endocrine System Diseases
C0011854 BXGD000753 Diabetes Mellitus, Insulin-Dependent Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
C0013362 BXGD000817 Dysarthria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0013384 BXGD000826 Dyskinetic syndrome Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0013421 BXGD000837 Dystonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0013423 BXGD000838 Dystonia Musculorum Deformans Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0015371 BXGD000978 Extrapyramidal Disorders Nervous System Diseases
C0018553 BXGD001203 Hamartoma Syndrome, Multiple Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
C0019348 BXGD001325 Herpes Simplex Infections Infections; Skin and Connective Tissue Diseases
C0022821 BXGD001590 Kyphosis deformity of spine Musculoskeletal Diseases
C0023051 BXGD001602 Laryngeal Diseases Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0024003 BXGD001726 Lordosis Musculoskeletal Diseases
C0024408 BXGD001768 Machado-Joseph Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0025183 BXGD001830 Meige Syndrome Nervous System Diseases
C0026650 BXGD001913 Movement Disorders Nervous System Diseases
C0026769 BXGD001930 Multiple Sclerosis Immune System Diseases; Nervous System Diseases
C0026826 BXGD001935 Muscle Hypertonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026850 BXGD001942 Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0027066 BXGD001966 Myoclonus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027765 BXGD002033 nervous system disorder Nervous System Diseases
C0028768 BXGD002084 Obsessive-Compulsive Disorder Mental Disorders
C0030567 BXGD002240 Parkinson Disease Nervous System Diseases
C0031212 BXGD002295 Personality Disorders Mental Disorders
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0037763 BXGD002699 Spasm Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0040485 BXGD002871 Torticollis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0040517 BXGD002872 Gilles de la Tourette syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0040822 BXGD002885 Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0085583 BXGD003194 Choreoathetosis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0086769 BXGD003310 Panic Attacks Mental Disorders
C0154409 BXGD003717 Recurrent major depressive episodes Mental Disorders
C0154676 BXGD003729 Organic writer's cramp Nervous System Diseases
C0221170 BXGD004400 Muscular stiffness Nervous System Diseases
C0221480 BXGD004464 Recurrent depression Mental Disorders
C0231471 BXGD004494 Abnormal posture Nervous System Diseases
C0234985 BXGD004708 Mental deterioration Mental Disorders
C0235031 BXGD004714 Neurologic Symptoms Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0242422 BXGD005163 Parkinsonian Disorders Nervous System Diseases
C0262405 BXGD005237 Cerebral dysfunction Nervous System Diseases
C0265219 BXGD005468 Miller Dieker syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0265267 BXGD005492 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0266006 BXGD005603 Pili torti-deafness syndrome Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0393588 BXGD008100 Dystonia, Paroxysmal Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0393593 BXGD008103 Dystonia Disorders Nervous System Diseases
C0393598 BXGD008104 Idiopathic familial dystonia Nervous System Diseases
C0393610 BXGD008107 Dystonia, Diurnal Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0400822 BXGD008258 Colitis, Lymphocytic Digestive System Diseases
C0406775 BXGD008371 Symmetrical dyschromatosis of extremities Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0424295 BXGD008524 Hyperactive behavior Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0424605 BXGD008535 Developmental delay (disorder) Mental Disorders
C0426980 BXGD008599 Motor symptoms
C0427086 BXGD008605 Involuntary Movements Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0557874 BXGD009444 Global developmental delay
C0575081 BXGD009512 Gait abnormality Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0600104 BXGD009690 Obsessive compulsive behavior Behavior and Behavior Mechanisms
C0600139 BXGD009695 Prostate carcinoma Neoplasms; Male Urogenital Diseases
C0686347 BXGD009832 Tardive Dyskinesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0743332 BXGD010081 Focal Dystonia Nervous System Diseases
C0751093 BXGD010317 Dystonia, Limb Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0752197 BXGD010686 Adult-Onset Dystonias Nervous System Diseases
C0752198 BXGD010687 Adult-Onset Idiopathic Focal Dystonias Nervous System Diseases
C0752199 BXGD010688 Adult-Onset Idiopathic Torsion Dystonias Nervous System Diseases
C0752200 BXGD010689 Autosomal Dominant Familial Dystonia Nervous System Diseases
C0752201 BXGD010690 Autosomal Recessive Familial Dystonia Nervous System Diseases
C0752202 BXGD010691 Childhood Onset Dystonias Nervous System Diseases
C0752203 BXGD010692 Dystonia, Primary Nervous System Diseases
C0752205 BXGD010693 Dystonia, Secondary Nervous System Diseases
C0752206 BXGD010694 Dystonias, Sporadic Nervous System Diseases
C0752207 BXGD010695 Familial Dystonia Nervous System Diseases
C0752208 BXGD010696 Pseudodystonia Nervous System Diseases
C0949445 BXGD011575 Cervical Dystonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1334804 BXGD012740 Motor Manifestations Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1414216 BXGD013054 Dystonia 6, torsion (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1611743 BXGD013456 Familial (FPAH)
C1834570 BXGD013981 Myoclonic dystonia Nervous System Diseases
C1850100 BXGD015108 PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder) Eye Diseases; Nervous System Diseases
C1851920 BXGD015246 Dopa-Responsive Dystonia Nervous System Diseases
C1851945 BXGD015249 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1857276 BXGD015688 Trichohepatoenteric Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1868681 BXGD016524 DYSTONIA 12 Nervous System Diseases
C1956346 BXGD016627 Coronary Artery Disease Cardiovascular Diseases
C1963946 BXGD016707 Laryngeal dystonia Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C1969807 BXGD016795 Dystonia, Focal, Task-Specific Nervous System Diseases
C1997740 BXGD016863 Segmental dystonia Nervous System Diseases
C2748208 BXGD017586 Executive dysfunction
C2749929 BXGD017638 Musician's Dystonia Nervous System Diseases
C2875058 BXGD017835 Familial torsion dystonia
C2930898 BXGD017913 Benign essential blepharospasm Eye Diseases
C2931456 BXGD018024 Prostate cancer, familial Neoplasms; Male Urogenital Diseases
C3267131 BXGD018616 Psychogenic movement disorder
C3463824 BXGD018899 MYELODYSPLASTIC SYNDROME Hemic and Lymphatic Diseases
C3697670 BXGD019358 Spinal cord myoclonus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3710741 BXGD019376 Torticollis, familial Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3714760 BXGD019432 Drug-induced tardive dyskinesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders
C3887506 BXGD019886 Hyperkinesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3888090 BXGD019948 Early onset torsion dystonia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C4016920 BXGD020390 DYSTONIA 1, TORSION, LATE-ONSET
C4021776 BXGD020772 Abnormality of the voice
C4275179 BXGD022368 Young onset Parkinson disease Nervous System Diseases
C4316810 BXGD022702 Writer's Cramp Nervous System Diseases
C4477055 BXGD022912 Limb myoclonus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4551915 BXGD023441 Gait Disturbance, CTCAE
C4722327 BXGD023799 PROSTATE CANCER, HEREDITARY, 1 Neoplasms; Male Urogenital Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0002588 Magnesium 24.31
BXGC0003705 Chloride 35.45
The  target protein-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compound? Number of compound in food, higher numbers indicate the food are more associated with the protein