Showing entry for Sacsin


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT021274
Protein NameSacsin
Uniport IdQ9NZJ4
GeneSACS
Gene Id26278
DomainHEPN; ubiquitin
Pfam PF05168   PF00240  
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:0090084 negative regulation of inclusion body assembly
Biological Process GO:0006457 protein folding
molecular function GO:0051087 chaperone binding
molecular function GO:0030544 Hsp70 protein binding
molecular function GO:0070628 proteasome binding
cellular component GO:0030424 axon
cellular component GO:0070852 cell body fiber
cellular component GO:0005737 cytoplasm
cellular component GO:0030425 dendrite
cellular component GO:0005739 mitochondrion
cellular component GO:0005634 nucleus
Reactome
Pathway Id Pathway Name
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000921 BXGD000019 Accidental Falls
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0004138 BXGD000258 Ataxias, Hereditary Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0005283 BXGD000308 beta Thalassemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0007758 BXGD000475 Cerebellar Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0007959 BXGD000507 Charcot-Marie-Tooth Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0009402 BXGD000605 Colorectal Carcinoma Digestive System Diseases; Neoplasms
C0010674 BXGD000683 Cystic Fibrosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
C0011168 BXGD000700 Deglutition Disorders Digestive System Diseases; Otorhinolaryngologic Diseases
C0013362 BXGD000817 Dysarthria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0016506 BXGD001062 Foot Deformities Musculoskeletal Diseases
C0020445 BXGD001386 Hypercholesterolemia, Familial Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0023817 BXGD001706 Hyperlipoproteinemia Type I Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0026267 BXGD001896 Mitral Valve Prolapse Syndrome Cardiovascular Diseases
C0026650 BXGD001913 Movement Disorders Nervous System Diseases
C0026769 BXGD001930 Multiple Sclerosis Immune System Diseases; Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026838 BXGD001938 Muscle Spasticity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0027765 BXGD002033 nervous system disorder Nervous System Diseases
C0027888 BXGD002056 Hereditary Motor and Sensory Neuropathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0031117 BXGD002285 Peripheral Neuropathy Nervous System Diseases
C0034935 BXGD002497 Babinski Reflex
C0037315 BXGD002687 Sleep Apnea Syndromes Respiratory Tract Diseases; Nervous System Diseases
C0037772 BXGD002703 Spastic Paraplegia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0039273 BXGD002806 Talipes cavus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0042024 BXGD002949 Urinary Incontinence Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0042870 BXGD003008 Vitamin D Deficiency Nutritional and Metabolic Diseases
C0078981 BXGD003059 Arachnoid Cysts Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C0085606 BXGD003201 Urgency of micturition Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0151889 BXGD003498 Hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0152025 BXGD003521 Polyneuropathy Nervous System Diseases
C0221357 BXGD004449 Brachydactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0231686 BXGD004508 Gait, Unsteady Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0233514 BXGD004584 Abnormal behavior Behavior and Behavior Mechanisms
C0234132 BXGD004623 Pyramidal sign Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234162 BXGD004627 Cerebellar Dysmetria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234376 BXGD004659 Action Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0242350 BXGD005154 Erectile dysfunction Male Urogenital Diseases; Mental Disorders
C0265255 BXGD005485 Trichorhinophalangeal syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0268483 BXGD005959 Tyrosinemias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0270922 BXGD006134 Peripheral demyelinating neuropathy Immune System Diseases; Nervous System Diseases
C0270952 BXGD006139 Muscular Dystrophy, Oculopharyngeal Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0278184 BXGD006506 Scanning speech Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0311394 BXGD006884 Difficulty walking Pathological Conditions, Signs and Symptoms
C0344482 BXGD007678 Hypoplasia of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0393519 BXGD008078 Cerebellar Ataxia, Early Onset Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0393525 BXGD008081 Progressive cerebellar ataxia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0393907 BXGD008154 Axonal sensorimotor neuropathy
C0424605 BXGD008535 Developmental delay (disorder) Mental Disorders
C0427065 BXGD008604 Distal muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0432072 BXGD008718 Dysmorphic features
C0497552 BXGD009067 Congenital neurologic anomalies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0524851 BXGD009246 Neurodegenerative Disorders Nervous System Diseases
C0557874 BXGD009444 Global developmental delay
C0558845 BXGD009459 Reflex, Ankle, Absent Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0598589 BXGD009667 Inherited neuropathies Nervous System Diseases
C0740279 BXGD009973 Cerebellar atrophy
C0742028 BXGD010051 Cerebellar vermis atrophy
C0745103 BXGD010114 Hyperlipoproteinemia Type IIa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0751776 BXGD010585 Atypical Inclusion-Body Disease Nervous System Diseases
C0751777 BXGD010586 Familial Progressive Myoclonic Epilepsy Nervous System Diseases
C0751778 BXGD010587 Myoclonic Epilepsies, Progressive Nervous System Diseases
C0751779 BXGD010588 Action Myoclonus-Renal Failure Syndrome Nervous System Diseases
C0751780 BXGD010589 Biotin-Responsive Encephalopathy Nervous System Diseases
C0751781 BXGD010590 Dentatorubral-Pallidoluysian Atrophy Nervous System Diseases
C0751782 BXGD010591 May-White Syndrome Nervous System Diseases
C0751785 BXGD010594 Unverricht-Lundborg Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0751837 BXGD010604 Gait Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1112256 BXGD011655 Sensorimotor neuropathy
C1136179 BXGD011712 Hammer Toe Musculoskeletal Diseases
C1271100 BXGD012007 Lower limb spasticity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1295585 BXGD012241 Decreased vibratory sense Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1837458 BXGD014233 Impaired smooth pursuit
C1840379 BXGD014459 Cerebellar vermis hypoplasia
C1843885 BXGD014616 Progressive gait ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1847584 BXGD014876 Distal sensory impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1848736 BXGD014970 Distal amyotrophy
C1849134 BXGD015010 Impaired vibration sensation in the lower limbs
C1849140 BXGD015011 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1849143 BXGD015012 Progressive truncal ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1849146 BXGD015013 Loss of Purkinje cells in the cerebellar vermis
C1849148 BXGD015014 Decreased sensory nerve conduction velocity
C1849151 BXGD015015 Hypermyelinated retinal nerve fibers
C1849152 BXGD015016 Swan neck-like deformities of the fingers
C1849156 BXGD015017 Spastic Ataxia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C1853394 BXGD015333 Gaze-evoked horizontal nystagmus Eye Diseases; Nervous System Diseases
C1853761 BXGD015359 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1858729 BXGD015825 Decreased motor nerve conduction velocity
C1859606 BXGD015914 Decreased number of large peripheral myelinated nerve fibers
C1861736 BXGD016072 SPINOCEREBELLAR ATAXIA 31 (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1866141 BXGD016379 Foot dorsiflexor weakness
C1879362 BXGD016576 Hypertyrosinemia
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3841475 BXGD019800 beta^+^ Thalassemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C4021085 BXGD020544 Abnormality of brain morphology
C4021221 BXGD020583 Impaired tactile sensation Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4022687 BXGD020960 Abnormal motor evoked potentials
C4023041 BXGD021080 Parietal cortical atrophy
C4023121 BXGD021116 Abnormality of the cerebellar peduncle
C4024905 BXGD021464 Abnormality of the pons
C4553743 BXGD023548 Spasticity, CTCAE
C4553976 BXGD023554 Urinary Urgency, CTCAE 5
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
C4721453 BXGD023744 Peripheral Nervous System Diseases Nervous System Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000436 Glycerol 92.09
BXGC0038991 Selenomethionine 197
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