Showing entry for Beta-hexosaminidase subunit beta


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT006657
Protein NameBeta-hexosaminidase subunit beta
Uniport IdP07686
GeneHEXB
Gene Id3074
DomainGlycohydro_20b2; Glyco_hydro_20
Pfam PF00728   PF14845  
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 1.1 Carbohydrate metabolism hsa00520 Amino sugar and nucleotide sugar metabolism
1. Metabolism 1.7 Glycan biosynthesis and metabolism hsa00531 Glycosaminoglycan degradation
1. Metabolism 1.7 Glycan biosynthesis and metabolism hsa00603 Glycosphingolipid biosynthesis - globo and isoglobo series
1. Metabolism 1.7 Glycan biosynthesis and metabolism hsa00604 Glycosphingolipid biosynthesis - ganglio series
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
4. Cellular Processes 4.1 Transport and catabolism hsa04142 Lysosome
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0043615 astrocyte cell migration
Biological Process GO:0006874 cellular calcium ion homeostasis
Biological Process GO:0044267 cellular protein metabolic process
Biological Process GO:0030207 chondroitin sulfate catabolic process
Biological Process GO:0006689 ganglioside catabolic process
Biological Process GO:0006687 glycosphingolipid metabolic process
Biological Process GO:0030214 hyaluronan catabolic process
Biological Process GO:0042340 keratan sulfate catabolic process
Biological Process GO:0019915 lipid storage
Biological Process GO:0007626 locomotory behavior
Biological Process GO:0007040 lysosome organization
Biological Process GO:0008049 male courtship behavior
Biological Process GO:0042552 myelination
Biological Process GO:0050885 neuromuscular process controlling balance
Biological Process GO:0043312 neutrophil degranulation
Biological Process GO:0009313 oligosaccharide catabolic process
Biological Process GO:0048477 oogenesis
Biological Process GO:0007341 penetration of zona pellucida
Biological Process GO:0008654 phospholipid biosynthetic process
Biological Process GO:0045944 positive regulation of transcription by RNA polymerase II
Biological Process GO:0008360 regulation of cell shape
Biological Process GO:0007605 sensory perception of sound
Biological Process GO:0001501 skeletal system development
molecular function GO:0008375 acetylglucosaminyltransferase activity
molecular function GO:0004563 beta-N-acetylhexosaminidase activity
molecular function GO:0042802 identical protein binding
molecular function GO:0102148 N-acetyl-beta-D-galactosaminidase activity
cellular component GO:0001669 acrosomal vesicle
cellular component GO:0042582 azurophil granule
cellular component GO:0035578 azurophil granule lumen
cellular component GO:0070062 extracellular exosome
cellular component GO:0005576 extracellular region
cellular component GO:0043202 lysosomal lumen
cellular component GO:0016020 membrane
Reactome
Pathway Id Pathway Name
R-HSA-1430728 Metabolism
R-HSA-1630316 Glycosaminoglycan metabolism
R-HSA-1638074 Keratan sulfate/keratin metabolism
R-HSA-1643685 Disease
R-HSA-1660662 Glycosphingolipid metabolism
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System
R-HSA-1793185 Chondroitin sulfate/dermatan sulfate metabolism
R-HSA-2022857 Keratan sulfate degradation
R-HSA-2024101 CS/DS degradation
R-HSA-2142845 Hyaluronan metabolism
R-HSA-2160916 Hyaluronan uptake and degradation
R-HSA-3560782 Diseases associated with glycosaminoglycan metabolism
R-HSA-3656248 Defective HEXB causes GM2G2
R-HSA-3781865 Diseases of glycosylation
R-HSA-428157 Sphingolipid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-5668914 Diseases of metabolism
R-HSA-6798695 Neutrophil degranulation
R-HSA-71387 Metabolism of carbohydrates
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0003873 BXGD000236 Rheumatoid Arthritis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
C0004096 BXGD000252 Asthma Respiratory Tract Diseases; Immune System Diseases
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0005890 BXGD000345 Body Height
C0007102 BXGD000425 Malignant tumor of colon Digestive System Diseases; Neoplasms
C0013362 BXGD000817 Dysarthria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0014550 BXGD000930 Myoclonic Epilepsy Nervous System Diseases
C0015644 BXGD001008 Muscular fasciculation Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0017083 BXGD001090 Gangliosidoses Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0017638 BXGD001132 Glioma Neoplasms
C0018498 BXGD001195 Hair Color
C0018800 BXGD001225 Cardiomegaly Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0019214 BXGD001307 Hepatosplenomegaly Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases
C0019693 BXGD001346 HIV Infections Infections; Immune System Diseases
C0020458 BXGD001393 Hyperhidrosis disorder Skin and Connective Tissue Diseases
C0020620 BXGD001448 Hypohidrosis Skin and Connective Tissue Diseases
C0020651 BXGD001460 Hypotension, Orthostatic Nervous System Diseases; Cardiovascular Diseases
C0022660 BXGD001571 Kidney Failure, Acute Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0023443 BXGD001648 Hairy Cell Leukemia Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0023890 BXGD001713 Liver Cirrhosis Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0024421 BXGD001770 Macroglossia Stomatognathic Diseases
C0025521 BXGD001876 Inborn Errors of Metabolism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0035309 BXGD002530 Retinal Diseases Eye Diseases
C0036161 BXGD002580 Sandhoff Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0039373 BXGD002809 Tay-Sachs Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0042024 BXGD002949 Urinary Incontinence Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0085078 BXGD003118 Lysosomal Storage Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0085084 BXGD003121 Motor Neuron Disease Nervous System Diseases
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0151889 BXGD003498 Hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0221355 BXGD004447 Macrocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0242350 BXGD005154 Erectile dysfunction Male Urogenital Diseases; Mental Disorders
C0267971 BXGD005798 Storage disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0268274 BXGD005877 Gangliosidoses, GM2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0268275 BXGD005878 Tay-Sachs Disease, AB Variant Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0401151 BXGD008274 Chronic diarrhea Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0456909 BXGD008883 Blindness Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0524851 BXGD009246 Neurodegenerative Disorders Nervous System Diseases
C0541794 BXGD009262 Skeletal muscle atrophy
C0699790 BXGD009866 Colon Carcinoma Digestive System Diseases; Neoplasms
C0751489 BXGD010469 Adult Sandhoff Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0751490 BXGD010470 Infantile Sandhoff Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0751491 BXGD010471 Juvenile Sandhoff Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0877024 BXGD011330 Schimke immunoosseous dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases
C1565662 BXGD013402 Acute Kidney Insufficiency Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1623038 BXGD013475 Cirrhosis Pathological Conditions, Signs and Symptoms
C1839042 BXGD014355 Upper motor neuron dysfunction
C1845847 BXGD014760 Coarse facial features Pathological Conditions, Signs and Symptoms
C1849320 BXGD015035 Sandhoff Disease, Adult Type Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1849321 BXGD015036 Sandhoff Disease, Juvenile Type Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1849322 BXGD015037 Sandhoff Disease, Infantile Type Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1856565 BXGD015618 Progressive psychomotor deterioration
C2216370 BXGD016949 Cherry red spot of the macula
C2609414 BXGD017182 Acute kidney injury Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C2713499 BXGD017503 Total Hexosaminidase Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C2874270 BXGD017831 GM2-GANGLIOSIDOSIS, ADULT
C3808022 BXGD019536 Episodic abdominal pain Pathological Conditions, Signs and Symptoms
C4024968 BXGD021507 Impaired thermal sensitivity
C4025350 BXGD021650 Abnormality of glycosphingolipid metabolism
C4310842 BXGD022677 SANDHOFF DISEASE, CHRONIC
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000436 Glycerol 92.09
BXGC0006368 Formic acid 46.03
BXGC0018397 beta-1,4-mannan 180.06
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