Showing entry for Non-lysosomal glucosylceramidase


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT020533
Protein NameNon-lysosomal glucosylceramidase
Uniport IdQ9HCG7
GeneGBA2
Gene Id57704
DomainDUF608; Glyco_hydr_116N
Pfam PF04685   PF12215  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.7 Glycan biosynthesis and metabolism hsa00511 Other glycan degradation
1. Metabolism 1.3 Lipid metabolism hsa00600 Sphingolipid metabolism
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0008206 bile acid metabolic process
Biological Process GO:0007417 central nervous system development
Biological Process GO:0021954 central nervous system neuron development
Biological Process GO:0008203 cholesterol metabolic process
Biological Process GO:0006680 glucosylceramide catabolic process
Biological Process GO:0016139 glycoside catabolic process
Biological Process GO:0006687 glycosphingolipid metabolic process
Biological Process GO:0030259 lipid glycosylation
Biological Process GO:0030833 regulation of actin filament polymerization
Biological Process GO:0097035 regulation of membrane lipid distribution
Biological Process GO:0031113 regulation of microtubule polymerization
molecular function GO:0008422 beta-glucosidase activity
molecular function GO:0004348 glucosylceramidase activity
molecular function GO:0046527 glucosyltransferase activity
molecular function GO:0050295 steryl-beta-glucosidase activity
cellular component GO:0005829 cytosol
cellular component GO:0042406 extrinsic component of endoplasmic reticulum membrane
cellular component GO:0090498 extrinsic component of Golgi membrane
cellular component GO:0019898 extrinsic component of membrane
cellular component GO:0016021 integral component of membrane
cellular component GO:0005886 plasma membrane
cellular component GO:0005790 smooth endoplasmic reticulum
Reactome
Pathway Id Pathway Name
R-HSA-1430728 Metabolism
R-HSA-1660662 Glycosphingolipid metabolism
R-HSA-428157 Sphingolipid metabolism
R-HSA-556833 Metabolism of lipids
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0007758 BXGD000475 Cerebellar Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
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
C0017205 BXGD001105 Gaucher Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0017601 BXGD001125 Glaucoma Eye Diseases
C0018784 BXGD001220 Sensorineural Hearing Loss (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0020179 BXGD001363 Huntington Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0021359 BXGD001498 Infertility Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0021364 BXGD001500 Male infertility Male Urogenital Diseases
C0026106 BXGD001889 Mild Mental Retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026838 BXGD001938 Muscle Spasticity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0027651 BXGD002009 Neoplasms Neoplasms
C0027765 BXGD002033 nervous system disorder Nervous System Diseases
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0030567 BXGD002240 Parkinson Disease Nervous System Diseases
C0034152 BXGD002467 Henoch-Schoenlein Purpura Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0034935 BXGD002497 Babinski Reflex
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0037771 BXGD002702 Paraparesis, Spastic Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037772 BXGD002703 Spastic Paraplegia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037773 BXGD002704 Spastic Paraplegia, Hereditary Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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
C0086543 BXGD003294 Cataract Eye Diseases
C0151889 BXGD003498 Hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0178874 BXGD004037 Tumor Progression Pathological Conditions, Signs and Symptoms
C0220756 BXGD004338 Niemann-Pick Disease, Type C Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
C0231687 BXGD004509 Spastic gait Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234649 BXGD004692 Abnormal saccadic eye movement
C0235946 BXGD004789 Cerebral atrophy Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0238651 BXGD004951 Ankle clonus
C0239882 BXGD005004 Head tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0241355 BXGD005092 Small testicle
C0267971 BXGD005798 Storage disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0278061 BXGD006492 Abnormal mental state Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C0311394 BXGD006884 Difficulty walking Pathological Conditions, Signs and Symptoms
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0344482 BXGD007678 Hypoplasia of corpus callosum Pathological Conditions, Signs and Symptoms; 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
C0403823 BXGD008315 Asthenozoospermia Male Urogenital Diseases
C0427190 BXGD008611 Ataxia, Truncal Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0431370 BXGD008675 Atrophy of corpus callosum Nervous System Diseases
C0443306 BXGD008817 Spastic Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0454596 BXGD008842 Dysarthria, Spastic Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0497327 BXGD009061 Dementia Nervous System Diseases; Mental Disorders
C0520823 BXGD009114 Patellar clonus
C0683322 BXGD009782 Mental impairment
C0740279 BXGD009973 Cerebellar atrophy
C0751603 BXGD010521 Autosomal Recessive Hereditary Spastic Paraplegia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0751837 BXGD010604 Gait Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0796036 BXGD010786 Marinesco-Sjogren-like syndrome (MSLS) Pathological Conditions, Signs and Symptoms; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0856863 BXGD011122 Broad-based gait
C1112256 BXGD011655 Sensorimotor neuropathy
C1263857 BXGD011900 Peripheral axonal neuropathy Nervous System Diseases
C1271100 BXGD012007 Lower limb spasticity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1273957 BXGD012019 Upper limb spasticity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1306341 BXGD012360 Mental handicap
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1836296 BXGD014105 Muscle Weakness Lower Limb Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1848736 BXGD014970 Distal amyotrophy
C1849134 BXGD015010 Impaired vibration sensation in the lower limbs
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
C1853558 BXGD015344 Jerky ocular pursuit movements
C1854372 BXGD015395 Impaired vibration sensation at ankles
C1854489 BXGD015408 Limb dysmetria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1854494 BXGD015409 Slow progression
C1856691 BXGD015631 Impaired proprioception Pathological Conditions, Signs and Symptoms; 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
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C2673700 BXGD017223 Brisk reflexes Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2828721 BXGD017803 SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
C3280708 BXGD018856 Upper limb dysmetria
C4021026 BXGD020524 Abnormal tendon morphology
C4022702 BXGD020964 Sperm head anomaly Male Urogenital Diseases
C4551583 BXGD023361 Cerebral cortical atrophy
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
C4706412 BXGD023693 Autosomal recessive cerebellar ataxia with late-onset spasticity Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000190 Moupinamide 313.35
BXGC0003113 N-trans-p-Coumaroyltyramine 283.32
BXGC0004906 N-trans-Feruloyloctopamine 329.35
BXGC0005084 N-cis-Caffeoyltyramine 299.32
BXGC0016028 Castanospermine 189.1
BXGC0018345 (2S,3S,4R)-2-Hydroxymethylpiperidine-3,4-Diol 147.09
BXGC0019700 Terrestriamide 327.11
BXGC0025338 Fagomine 147.09
BXGC0032319 L-Ido-1-Deoxynojirimycin 163.08
BXGC0038823 3-Epifagomine 147.09
BXGC0041132 Duvoglustat 163.08
BXGC0041896 (2R,3R,4R)-2-(Hydroxymethyl)Pyrrolidine-3,4-Diol 133.07
BXGC0050608 Fagomine 147.09
BXGC0051203 2,5-Dideoxy-2,5-Imino-D-Mannitol 163.08
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