Showing entry for Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT022207
Protein NameBifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
Uniport IdQ9Y223
GeneGNE
Gene Id10020
DomainEpimerase_2; ROK
Pfam PF02350   PF00480  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.1 Carbohydrate metabolism hsa00520 Amino sugar and nucleotide sugar metabolism
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0007155 cell adhesion
Biological Process GO:0006045 N-acetylglucosamine biosynthetic process
Biological Process GO:0006054 N-acetylneuraminate metabolic process
Biological Process GO:0006047 UDP-N-acetylglucosamine metabolic process
molecular function GO:0005524 ATP binding
molecular function GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds
molecular function GO:0046872 metal ion binding
molecular function GO:0009384 N-acylmannosamine kinase activity
molecular function GO:0008761 UDP-N-acetylglucosamine 2-epimerase activity
cellular component GO:0005737 cytoplasm
cellular component GO:0005829 cytosol
Reactome
Pathway Id Pathway Name
R-HSA-1643685 Disease
R-HSA-3781865 Diseases of glycosylation
R-HSA-392499 Metabolism of proteins
R-HSA-4085001 Sialic acid metabolism
R-HSA-4085011 Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2
R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-446219 Synthesis of substrates in N-glycan biosythesis
R-HSA-5609975 Diseases associated with glycosylation precursor biosynthesis
R-HSA-5668914 Diseases of metabolism
R-HSA-597592 Post-translational protein modification
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0002395 BXGD000111 Alzheimer's Disease Nervous System Diseases; Mental Disorders
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007134 BXGD000443 Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0008350 BXGD000531 Cholelithiasis Digestive System Diseases
C0015469 BXGD000996 Facial paralysis Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
C0017168 BXGD001101 Gastroesophageal reflux disease Digestive System Diseases
C0019209 BXGD001305 Hepatomegaly Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0019214 BXGD001307 Hepatosplenomegaly Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases
C0019294 BXGD001314 Hernia, Inguinal Pathological Conditions, Signs and Symptoms
C0019825 BXGD001349 Hoarseness Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0020676 BXGD001462 Hypothyroidism Endocrine System Diseases
C0026106 BXGD001889 Mild Mental Retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026848 BXGD001941 Myopathy Musculoskeletal Diseases; Nervous System Diseases
C0027121 BXGD001973 Myositis Musculoskeletal Diseases; Nervous System Diseases
C0027651 BXGD002009 Neoplasms Neoplasms
C0027868 BXGD002053 Neuromuscular Diseases Nervous System Diseases
C0029401 BXGD002135 Osteitis Deformans Musculoskeletal Diseases
C0030552 BXGD002238 Paresis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037315 BXGD002687 Sleep Apnea Syndromes Respiratory Tract Diseases; Nervous System Diseases
C0038002 BXGD002723 Splenomegaly Pathological Conditions, Signs and Symptoms
C0040034 BXGD002836 Thrombocytopenia Hemic and Lymphatic Diseases
C0086437 BXGD003282 Joint laxity Musculoskeletal Diseases
C0086795 BXGD003311 Pfaundler-Hurler Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0151872 BXGD003493 Prothrombin time increased Hemic and Lymphatic Diseases
C0221354 BXGD004446 Frontal bossing Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0233794 BXGD004618 Memory impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0235974 BXGD004796 Pancreatic carcinoma Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0238190 BXGD004890 Inclusion Body Myositis (disorder) Musculoskeletal Diseases; Nervous System Diseases
C0239234 BXGD004974 Low set ears
C0240635 BXGD005047 Byzanthine arch palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C0240671 BXGD005048 Partial thromboplastin time increased (finding)
C0240953 BXGD005067 Winged scapula
C0241005 BXGD005072 Creatine phosphokinase serum increased
C0272278 BXGD006335 Congenital thrombocytopenia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
C0276289 BXGD006418 Zika Virus Infection Infections
C0279702 BXGD006685 Conventional (Clear Cell) Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0338451 BXGD007176 Frontotemporal dementia Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
C0342853 BXGD007563 Sialuria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0345905 BXGD007746 Intrahepatic Cholangiocarcinoma Neoplasms
C0346647 BXGD007832 Malignant neoplasm of pancreas Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0427063 BXGD008602 Shoulder girdle weakness
C0427065 BXGD008604 Distal muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0427149 BXGD008608 Gait, Drop Foot Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0429349 BXGD008650 EMG positive sharp waves
C0431447 BXGD008690 Synophrys Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0432355 BXGD008780 Hypoplasia of nipple
C0454641 BXGD008848 Expressive language delay
C0497327 BXGD009061 Dementia Nervous System Diseases; Mental Disorders
C0542476 BXGD009276 Forgetful Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0557874 BXGD009444 Global developmental delay
C0558845 BXGD009459 Reflex, Ankle, Absent Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0575081 BXGD009512 Gait abnormality Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0575157 BXGD009514 Deformity of spine
C0678230 BXGD009750 Congenital Epicanthus
C0686353 BXGD009833 Muscular Dystrophies, Limb-Girdle Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0740852 BXGD010011 Upper airway obstruction
C0751336 BXGD010392 Distal Muscular Dystrophies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0751713 BXGD010564 Inclusion Body Myopathy, Sporadic Musculoskeletal Diseases; Nervous System Diseases
C0878544 BXGD011368 Cardiomyopathies Cardiovascular Diseases
C1096902 BXGD011644 Infantile Sialic Acid Storage Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1096903 BXGD011645 Sialic Acid Storage Disease, Finnish Type (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1142533 BXGD011758 Smooth philtrum
C1263846 BXGD011897 Attention deficit hyperactivity disorder Mental Disorders
C1333064 BXGD012587 Classical Hodgkin's Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C1833373 BXGD013921 Inclusion Body Myopathy, Autosomal Recessive Musculoskeletal Diseases; Nervous System Diseases
C1833662 BXGD013936 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders
C1836450 BXGD014117 Distal lower limb muscle weakness
C1837260 BXGD014214 Prominent forehead
C1837404 BXGD014229 High, narrow palate
C1837482 BXGD014237 Thoracic hypoplasia
C1839615 BXGD014390 X-linked myopathy with excessive autophagy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1843700 BXGD014604 Increased variability in muscle fiber diameter
C1845847 BXGD014760 Coarse facial features Pathological Conditions, Signs and Symptoms
C1847766 BXGD014888 Shoulder girdle muscle atrophy
C1848701 BXGD014967 Elevated hepatic transaminase
C1848736 BXGD014970 Distal amyotrophy
C1849211 BXGD015023 Generalized hirsutism Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C1849367 BXGD015046 Nasal bridge wide
C1851313 BXGD015207 Limited shoulder movement
C1853926 BXGD015365 NONAKA MYOPATHY Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1853932 BXGD015366 Rimmed vacuoles on biopsy
C1853934 BXGD015367 Deposits immunoreactive to beta-amyloid protein
C1854928 BXGD015443 Protuberant abdomen
C1855728 BXGD015536 Low posterior hairline
C1858036 BXGD015763 Periorbital fullness
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1862481 BXGD016133 Limited wrist extension
C1864375 BXGD016225 Long hallux
C1865014 BXGD016282 Long philtrum
C1865017 BXGD016283 Thin upper lip vermilion
C1866141 BXGD016379 Foot dorsiflexor weakness
C1963167 BXGD016686 Memory Impairment, CTCAE 3.0
C2347747 BXGD017040 Adult Classical Hodgkin Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C2931230 BXGD017985 Vacuolar myopathy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C3279725 BXGD018774 Hip flexor weakness
C3808022 BXGD019536 Episodic abdominal pain Pathological Conditions, Signs and Symptoms
C3887506 BXGD019886 Hyperkinesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3888194 BXGD019955 MIXED LINEAGE LEUKEMIA
C4021082 BXGD020543 Fatty replacement of skeletal muscle
C4021726 BXGD020735 EMG: myopathic abnormalities Musculoskeletal Diseases; Nervous System Diseases
C4021768 BXGD020766 Abnormality of metabolism/homeostasis
C4022159 BXGD020886 Muscle fiber inclusion bodies
C4022169 BXGD020890 EMG: myotonic discharges
C4022470 BXGD020901 Abnormality of the right hemidiaphragm
C4023042 BXGD021081 Abnormality of the mitochondrion
C4024601 BXGD021334 Weakness of long finger extensor muscles
C4024612 BXGD021343 Tibialis muscle weakness
C4024921 BXGD021475 Lower limb amyotrophy
C4025785 BXGD021787 Abnormality of the foot musculature
C4284013 BXGD022428 Primary cholangiocarcinoma of intrahepatic biliary tract Neoplasms
C4551570 BXGD023357 2-3 toe syndactyly
C4551915 BXGD023441 Gait Disturbance, CTCAE
C4551993 BXGD023469 Amyotrophic Lateral Sclerosis, Familial Nutritional and Metabolic Diseases; Nervous System Diseases
C4553765 BXGD023551 Memory Impairment, CTCAE 5.0
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0002586 Calcium 40.08
BXGC0002588 Magnesium 24.31
BXGC0003705 Chloride 35.45
BXGC0003993 Uridine diphosphate 404.16
BXGC0030612 tetraethylene glycol 194.12
BXGC0049447 acetate 59.01
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