Showing entry for Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT005330
Protein NameGalactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3
Uniport IdO94766
GeneB3GAT3
Gene Id26229
DomainGlyco_transf_43
Pfam PF03360  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.7 Glycan biosynthesis and metabolism hsa00532 Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
1. Metabolism 1.7 Glycan biosynthesis and metabolism hsa00534 Glycosaminoglycan biosynthesis - heparan sulfate / heparin
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:0050650 chondroitin sulfate proteoglycan biosynthetic process
Biological Process GO:0050651 dermatan sulfate proteoglycan biosynthetic process
Biological Process GO:0006024 glycosaminoglycan biosynthetic process
Biological Process GO:0030203 glycosaminoglycan metabolic process
Biological Process GO:0015012 heparan sulfate proteoglycan biosynthetic process
Biological Process GO:0043085 positive regulation of catalytic activity
Biological Process GO:0090316 positive regulation of intracellular protein transport
Biological Process GO:0006486 protein glycosylation
molecular function GO:0015018 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity
molecular function GO:0015020 glucuronosyltransferase activity
molecular function GO:0046872 metal ion binding
molecular function GO:0072542 protein phosphatase activator activity
cellular component GO:0005801 cis-Golgi network
cellular component GO:0070062 extracellular exosome
cellular component GO:0005794 Golgi apparatus
cellular component GO:0000139 Golgi membrane
cellular component GO:0016021 integral component of membrane
cellular component GO:0016020 membrane
Reactome
Pathway Id Pathway Name
R-HSA-1430728 Metabolism
R-HSA-1630316 Glycosaminoglycan metabolism
R-HSA-1638091 Heparan sulfate/heparin (HS-GAG) metabolism
R-HSA-1643685 Disease
R-HSA-1793185 Chondroitin sulfate/dermatan sulfate metabolism
R-HSA-1971475 A tetrasaccharide linker sequence is required for GAG synthesis
R-HSA-3560782 Diseases associated with glycosaminoglycan metabolism
R-HSA-3560801 Defective B3GAT3 causes JDSSDHD
R-HSA-3781865 Diseases of glycosylation
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
C0000768 BXGD000007 Congenital Abnormality Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0002418 BXGD000112 Amblyopia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0008925 BXGD000575 Cleft Palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0009081 BXGD000581 Congenital clubfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0009918 BXGD000636 Contracture of joint Musculoskeletal Diseases
C0010278 BXGD000660 Craniosynostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0010495 BXGD000674 Cutis Laxa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0014877 BXGD000967 Esotropia Eye Diseases; Nervous System Diseases
C0016202 BXGD001050 Flatfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0016522 BXGD001067 Foramen Ovale, Patent Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0017601 BXGD001125 Glaucoma Eye Diseases
C0018798 BXGD001223 Congenital Heart Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0018800 BXGD001225 Cardiomegaly Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0020255 BXGD001369 Hydrocephalus Nervous System Diseases
C0020302 BXGD001373 Hydrophthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0020490 BXGD001403 Hyperopia Eye Diseases
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0026034 BXGD001887 Microstomia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0026267 BXGD001896 Mitral Valve Prolapse Syndrome Cardiovascular Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027651 BXGD002009 Neoplasms Neoplasms
C0029422 BXGD002142 Osteochondrodysplasias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0029453 BXGD002154 Osteopenia Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0029456 BXGD002157 Osteoporosis Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0034069 BXGD002458 Pulmonary Fibrosis Respiratory Tract Diseases
C0034951 BXGD002498 Refractive Errors Eye Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0086437 BXGD003282 Joint laxity Musculoskeletal Diseases
C0149630 BXGD003334 Bicuspid aortic valve Cardiovascular Diseases
C0149721 BXGD003349 Left Ventricular Hypertrophy Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0152423 BXGD003587 Congenital small ears Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
C0158761 BXGD003905 Radioulnar Synostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0220630 BXGD004302 Adult Liver Carcinoma Digestive System Diseases; Neoplasms
C0221354 BXGD004446 Frontal bossing Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0221356 BXGD004448 Brachycephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0239234 BXGD004974 Low set ears
C0240340 BXGD005031 Microdontia (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0241395 BXGD005094 Spatulate thumbs
C0265642 BXGD005557 Talipes Equinovalgus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0267672 BXGD005766 Bilateral inguinal hernia Pathological Conditions, Signs and Symptoms
C0279000 BXGD006622 Liver and Intrahepatic Biliary Tract Carcinoma Digestive System Diseases; Neoplasms
C0345904 BXGD007745 Malignant neoplasm of liver Digestive System Diseases; Neoplasms
C0349588 BXGD007933 Short stature
C0376634 BXGD008006 Craniofacial Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0409338 BXGD008381 Flexion contracture - elbow
C0410528 BXGD008430 Skeletal dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0410654 BXGD008445 Instability of atlantooccipital joint
C0423110 BXGD008471 Downward slant of palpebral fissure
C0426790 BXGD008577 Narrow thorax
C0432255 BXGD008758 Geroderma osteodysplastica Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases
C0521525 BXGD009139 Short neck
C0545053 BXGD009323 Advanced bone age
C1269955 BXGD012005 Tumor Cell Invasion
C1298820 BXGD012252 Aneurysm of aortic root Cardiovascular Diseases
C1302790 BXGD012313 Congenital malformation syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1800706 BXGD013755 Idiopathic Pulmonary Fibrosis Respiratory Tract Diseases
C1836542 BXGD014129 Depressed nasal bridge
C1837260 BXGD014214 Prominent forehead
C1853242 BXGD015322 Midface retrusion
C1853487 BXGD015340 Thick eyebrow
C1855538 BXGD015507 Small face
C1855544 BXGD015508 Enlarged metaphyses
C1855728 BXGD015536 Low posterior hairline
C1855852 BXGD015554 Abnormally large globe
C2919142 BXGD017867 Short Stature, CTCAE
C2981140 BXGD018209 Glaucoma of childhood Eye Diseases
C2985280 BXGD018223 Blood Protein Measurement
C3278404 BXGD018740 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
C3278429 BXGD018741 Bilateral elbow dislocations
C4021664 BXGD020727 Abnormality of the abdominal wall Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C4024174 BXGD021300 Broad distal phalanges of all fingers
C4082169 BXGD022084 Metatarsus Varus Musculoskeletal Diseases
C4310897 BXGD022685 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS
C4707243 BXGD023712 Familial thoracic aortic aneurysm and aortic dissection
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0003993 Uridine diphosphate 404.16
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