Showing entry for 1,4-alpha-glucan-branching enzyme


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT012764
Protein Name1,4-alpha-glucan-branching enzyme
Uniport IdQ04446
GeneGBE1
Gene Id2632
DomainAlpha-amylase; Alpha-amylase_C; CBM_48
Pfam PF00128   PF02806   PF02922  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.1 Carbohydrate metabolism hsa00500 Starch and sucrose metabolism
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0005975 carbohydrate metabolic process
Biological Process GO:0006091 generation of precursor metabolites and energy
Biological Process GO:0005978 glycogen biosynthetic process
Biological Process GO:0005977 glycogen metabolic process
molecular function GO:0003844 1,4-alpha-glucan branching enzyme activity
molecular function GO:0102752 1,4-alpha-glucan branching enzyme activity (using a glucosylated glycogenin as primer for glycogen synthesis)
molecular function GO:0043169 cation binding
molecular function GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds
cellular component GO:0005737 cytoplasm
cellular component GO:0005829 cytosol
cellular component GO:0070062 extracellular exosome
Reactome
Pathway Id Pathway Name
R-HSA-1430728 Metabolism
R-HSA-1643685 Disease
R-HSA-3229121 Glycogen storage diseases
R-HSA-3322077 Glycogen synthesis
R-HSA-3878781 Glycogen storage disease type IV (GBE1)
R-HSA-5663084 Diseases of carbohydrate metabolism
R-HSA-5668914 Diseases of metabolism
R-HSA-71387 Metabolism of carbohydrates
R-HSA-8982491 Glycogen metabolism
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0003886 BXGD000238 Arthrogryposis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0003962 BXGD000244 Ascites Pathological Conditions, Signs and Symptoms
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0005697 BXGD000324 Neurogenic Urinary Bladder Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0011849 BXGD000751 Diabetes Mellitus Nutritional and Metabolic Diseases; Endocrine System Diseases
C0013604 BXGD000859 Edema Pathological Conditions, Signs and Symptoms
C0014867 BXGD000964 Esophageal Varices Digestive System Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0017495 BXGD001111 Gerstmann-Straussler-Scheinker Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases
C0017919 BXGD001150 Glycogen Storage Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0017921 BXGD001152 Glycogen storage disease type II Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0017922 BXGD001153 Glycogen Storage Disease Type III Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0017923 BXGD001154 Glycogen Storage Disease Type IV Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0018989 BXGD001263 Hemiparesis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0019214 BXGD001307 Hepatosplenomegaly Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases
C0020224 BXGD001366 Polyhydramnios Female Urogenital Diseases and Pregnancy Complications
C0020305 BXGD001374 Hydrops Fetalis Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
C0020541 BXGD001424 Portal Hypertension Digestive System Diseases
C0023467 BXGD001658 Leukemia, Myelocytic, Acute Neoplasms
C0023520 BXGD001678 Leukodystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0023895 BXGD001717 Liver diseases Digestive System Diseases
C0025202 BXGD001832 melanoma Neoplasms
C0025517 BXGD001875 Metabolic Diseases Nutritional and Metabolic 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
C0026848 BXGD001941 Myopathy Musculoskeletal Diseases; Nervous System Diseases
C0027651 BXGD002009 Neoplasms Neoplasms
C0029438 BXGD002148 Massive Osteolyses Musculoskeletal Diseases
C0030554 BXGD002239 Paresthesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0032708 BXGD002368 Disorders of Porphyrin Metabolism Nutritional and Metabolic Diseases
C0037299 BXGD002685 Skin Ulcer Skin and Connective Tissue Diseases
C0037772 BXGD002703 Spastic Paraplegia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0038454 BXGD002760 Cerebrovascular accident Nervous System Diseases; Cardiovascular Diseases
C0042024 BXGD002949 Urinary Incontinence Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0079731 BXGD003087 B-Cell Lymphomas Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0085605 BXGD003200 Liver Failure Digestive System Diseases
C0085623 BXGD003210 Akinesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0152013 BXGD003516 Adenocarcinoma of lung (disorder) Neoplasms
C0233514 BXGD004584 Abnormal behavior Behavior and Behavior Mechanisms
C0234132 BXGD004623 Pyramidal sign Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234133 BXGD004624 Extrapyramidal sign
C0235031 BXGD004714 Neurologic Symptoms Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235659 BXGD004763 Reduced fetal movement Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
C0242379 BXGD005157 Malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C0265261 BXGD005489 Multiple pterygium syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0268237 BXGD005861 Cytochrome-c Oxidase Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0270790 BXGD006105 Quadriparesis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0270960 BXGD006141 Congenital myopathy (disorder) Musculoskeletal Diseases; Nervous System Diseases
C0270971 BXGD006146 Floppy infant syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0279626 BXGD006657 Squamous cell carcinoma of esophagus Digestive System Diseases; Neoplasms
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0342751 BXGD007542 Generalized glycogen storage disease of infants Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0342790 BXGD007553 Carnitine palmitoyl transferase 2 deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0393819 BXGD008151 Polyradiculoneuropathy, Chronic Inflammatory Demyelinating Immune System Diseases; Nervous System Diseases
C0410702 BXGD008447 Adolescent idiopathic scoliosis Musculoskeletal Diseases
C0455829 BXGD008859 Waist Circumference
C0476403 BXGD008992 Electromyogram abnormal
C0497327 BXGD009061 Dementia Nervous System Diseases; Mental Disorders
C0541794 BXGD009262 Skeletal muscle atrophy
C0575081 BXGD009512 Gait abnormality Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0684249 BXGD009790 Carcinoma of lung Neoplasms; Respiratory Tract Diseases
C0751651 BXGD010539 Mitochondrial Diseases Nutritional and Metabolic Diseases
C0795956 BXGD010771 Chylomicron retention disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
C0878544 BXGD011368 Cardiomyopathies Cardiovascular Diseases
C0919267 BXGD011426 ovarian neoplasm Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0948163 BXGD011511 Leukoaraiosis Pathological Conditions, Signs and Symptoms
C1263857 BXGD011900 Peripheral axonal neuropathy Nervous System Diseases
C1276035 BXGD012100 Pena-Shokeir syndrome type I Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1305855 BXGD012348 Body mass index
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1306460 BXGD012362 Primary malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C1449563 BXGD013086 Cardiomyopathy, Familial Idiopathic Cardiovascular Diseases
C1623038 BXGD013475 Cirrhosis Pathological Conditions, Signs and Symptoms
C1837461 BXGD014234 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
C1843663 BXGD014600 Urinary bladder sphincter dysfunction
C1847584 BXGD014876 Distal sensory impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1849722 BXGD015081 Polyglucosan Body Disease, Adult Form Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1854494 BXGD015409 Slow progression
C1854678 BXGD015420 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C1856301 BXGD015593 GSD IV, Classic Hepatic Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C1856303 BXGD015594 GSD IV, Neuromuscular Form, Fatal Perinatal Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1856304 BXGD015595 GSD IV, Neuromuscular Form, Congenital Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1856305 BXGD015596 GSD IV, Neuromuscular Form, Childhood Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1856309 BXGD015597 Fetal hydrops (in perinatal or congenital neuromuscular forms)
C1857108 BXGD015677 Limitation of joint mobility
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1866934 BXGD016427 Reduced tendon reflexes Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1969372 BXGD016775 Tubulointerstitial fibrosis
C1969443 BXGD016778 Trifunctional Protein Deficiency With Myopathy And Neuropathy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
C3151520 BXGD018439 Early severe fetal akinesia sequence
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C4017114 BXGD020410 GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC
C4017116 BXGD020411 GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC
C4017117 BXGD020412 GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR
C4017118 BXGD020413 ADULT POLYGLUCOSAN BODY NEUROPATHY
C4021768 BXGD020766 Abnormality of metabolism/homeostasis
C4025723 BXGD021757 Abnormal upper motor neuron morphology
C4551915 BXGD023441 Gait Disturbance, CTCAE
C4553743 BXGD023548 Spasticity, CTCAE
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0005625 alpha-D-Glucopyranose 180.16
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