Showing entry for Beta-hexosaminidase subunit alpha


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT006516
Protein NameBeta-hexosaminidase subunit alpha
Uniport IdP06865
GeneHEXA
Gene Id3073
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:0005975 carbohydrate metabolic process
Biological Process GO:0030207 chondroitin sulfate catabolic process
Biological Process GO:0006689 ganglioside catabolic process
Biological Process GO:0006024 glycosaminoglycan biosynthetic process
Biological Process GO:0006687 glycosphingolipid metabolic process
Biological Process GO:0030214 hyaluronan catabolic process
Biological Process GO:0042340 keratan sulfate catabolic process
molecular function GO:0008375 acetylglucosaminyltransferase activity
molecular function GO:0004563 beta-N-acetylhexosaminidase activity
molecular function GO:0102148 N-acetyl-beta-D-galactosaminidase activity
molecular function GO:0046982 protein heterodimerization activity
cellular component GO:0042582 azurophil granule
cellular component GO:0070062 extracellular exosome
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-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-3656234 Defective HEXA causes GM2G1
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-71387 Metabolism of carbohydrates
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0002736 BXGD000127 Amyotrophic Lateral Sclerosis Nutritional and Metabolic Diseases; Nervous System Diseases
C0002895 BXGD000152 Anemia, Sickle Cell Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0003873 BXGD000236 Rheumatoid Arthritis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0010674 BXGD000683 Cystic Fibrosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
C0014736 BXGD000943 Erysipelothrix infection Infections; Animal Diseases
C0017083 BXGD001090 Gangliosidoses Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0017205 BXGD001105 Gaucher Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0017638 BXGD001132 Glioma Neoplasms
C0019209 BXGD001305 Hepatomegaly Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0019693 BXGD001346 HIV Infections Infections; Immune System Diseases
C0019829 BXGD001350 Hodgkin Disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0020796 BXGD001468 Profound Mental Retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0024299 BXGD001758 Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0025363 BXGD001867 Mental Retardation, Psychosocial Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0025521 BXGD001876 Inborn Errors of Metabolism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0026650 BXGD001913 Movement Disorders 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
C0026847 BXGD001940 Spinal Muscular Atrophy Nervous System Diseases
C0026936 BXGD001950 Mycoplasma Infections Infections
C0028754 BXGD002082 Obesity Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0030232 BXGD002197 Pallor Pathological Conditions, Signs and Symptoms
C0030552 BXGD002238 Paresis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0030567 BXGD002240 Parkinson Disease Nervous System Diseases
C0034880 BXGD002488 Hyperacusis Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic 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
C0042029 BXGD002951 Urinary tract infection Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases
C0042798 BXGD003003 Low Vision Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0085078 BXGD003118 Lysosomal Storage Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0085632 BXGD003215 Apathy Behavior and Behavior Mechanisms
C0151611 BXGD003447 Electroencephalogram abnormal Nervous System Diseases
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0152109 BXGD003542 Juvenile Spinal Muscular Atrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0220787 BXGD004345 Endotracheal aspiration
C0238286 BXGD004904 Mucolipidosis Type IV Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System 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
C0268276 BXGD005879 Juvenile GM 2 gangliosidosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0282220 BXGD006801 Amaurotic Familial Idiocy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0456909 BXGD008883 Blindness Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0497327 BXGD009061 Dementia Nervous System Diseases; Mental Disorders
C0524851 BXGD009246 Neurodegenerative Disorders Nervous System Diseases
C0700198 BXGD009877 Pulmonary aspiration Respiratory Tract Diseases
C0858277 BXGD011173 angina symptom Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0917816 BXGD011419 Mental deficiency Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C1258104 BXGD011823 Diffuse Scleroderma Skin and Connective Tissue Diseases
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1332206 BXGD012504 Adult Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C1332979 BXGD012571 Childhood Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1740801 BXGD013744 Exaggerated startle response
C1836038 BXGD014073 Poor head control Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1836830 BXGD014165 Developmental regression Mental Disorders
C1836842 BXGD014167 Psychomotor deterioration Mental Disorders
C1848913 BXGD014983 Tay-Sachs Disease, Juvenile Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1848914 BXGD014984 Hexosaminidase A Deficiency, Adult Type Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1848916 BXGD014985 Tay-Sachs Disease, Variant B1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1848920 BXGD014986 GM2-ganglioside accumulation
C1848922 BXGD014987 Hexosaminidase alpha-Subunit Deficiency (Variant B) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1849265 BXGD015028 Overgrowth
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1963221 BXGD016690 Aspiration, CTCAE
C2216370 BXGD016949 Cherry red spot of the macula
C2712334 BXGD017486 Actual Aspiration
C2749283 BXGD017617 Gm2-Gangliosidosis, Variant B1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C2827071 BXGD017792 Unintentional Material Aspiration
C2874270 BXGD017831 GM2-GANGLIOSIDOSIS, ADULT
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C4016988 BXGD020396 GM2-GANGLIOSIDOSIS, CHRONIC
C4017633 BXGD020451 HEXA, CZECHOSLOVAKIAN ALLELE PHENOTYPE
C4022770 BXGD020995 Abnormal thalamic MRI signal intensity
C4310843 BXGD022678 TAY-SACHS DISEASE, JUVENILE/ADULT
C4310890 BXGD022681 GM2-GANGLIOSIDOSIS, SUBACUTE
C4310891 BXGD022682 GM2-GANGLIOSIDOSIS, LATE ONSET
C4310892 BXGD022683 BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF
C4310893 BXGD022684 GM2-GANGLIOSIDOSIS, ADULT-ONSET
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
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