Showing entry for Beta-1,4-galactosyltransferase 7


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT021665
Protein NameBeta-1,4-galactosyltransferase 7
Uniport IdQ9UBV7
GeneB4GALT7
Gene Id11285
DomainGlyco_transf_7C; Glyco_transf_7N
Pfam PF02709   PF13733  
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:0006464 cellular protein modification process
Biological Process GO:0006024 glycosaminoglycan biosynthetic process
Biological Process GO:0030203 glycosaminoglycan metabolic process
Biological Process GO:0048147 negative regulation of fibroblast proliferation
Biological Process GO:0006487 protein N-linked glycosylation
Biological Process GO:0006029 proteoglycan metabolic process
Biological Process GO:0097435 supramolecular fiber organization
molecular function GO:0003831 beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity
molecular function GO:0008378 galactosyltransferase activity
molecular function GO:0030145 manganese ion binding
molecular function GO:0046525 xylosylprotein 4-beta-galactosyltransferase activity
cellular component GO:0005794 Golgi apparatus
cellular component GO:0032580 Golgi cisterna membrane
cellular component GO:0000139 Golgi membrane
cellular component GO:0016021 integral component of 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-3560783 Defective B4GALT7 causes EDS, progeroid type
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
C0003507 BXGD000203 Aortic Valve Stenosis Cardiovascular Diseases
C0003706 BXGD000215 Arachnodactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0003873 BXGD000236 Rheumatoid Arthritis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
C0009207 BXGD000593 Cockayne Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0009319 BXGD000596 Colitis Digestive System Diseases
C0009363 BXGD000599 Congenital ocular coloboma (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0009782 BXGD000631 Connective Tissue Diseases Skin and Connective Tissue Diseases
C0010417 BXGD000670 Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System 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
C0013720 BXGD000861 Ehlers-Danlos Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0015300 BXGD000973 Exophthalmos Eye Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0016202 BXGD001050 Flatfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0017574 BXGD001122 Gingivitis Infections; Stomatognathic Diseases
C0017661 BXGD001139 IGA Glomerulonephritis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
C0023787 BXGD001698 Lipodystrophy Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0026034 BXGD001887 Microstomia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0029408 BXGD002137 Degenerative polyarthritis Musculoskeletal Diseases
C0029422 BXGD002142 Osteochondrodysplasias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0029453 BXGD002154 Osteopenia Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0037268 BXGD002675 Skin Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0037856 BXGD002707 Spermatic Cord Torsion Male Urogenital Diseases
C0086437 BXGD003282 Joint laxity Musculoskeletal Diseases
C0158731 BXGD003902 Congenital pectus carinatum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0158761 BXGD003905 Radioulnar Synostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0162154 BXGD003922 Atrophic scar Pathological Conditions, Signs and Symptoms
C0221355 BXGD004447 Macrocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0239137 BXGD004965 Coxa valga Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0239234 BXGD004974 Low set ears
C0241074 BXGD005078 Hyperextensible skin
C0333068 BXGD006920 Flexion contracture Musculoskeletal Diseases
C0345392 BXGD007732 Congenital kyphoscoliosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0349588 BXGD007933 Short stature
C0376634 BXGD008006 Craniofacial Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0410528 BXGD008430 Skeletal dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0423113 BXGD008473 Telecanthus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0423757 BXGD008504 Thin skin
C0424503 BXGD008532 Dysmorphic facies
C0424731 BXGD008542 Single transverse palmar crease Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0426790 BXGD008577 Narrow thorax
C0426799 BXGD008578 Congenital hypoplasia of clavicle Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0426807 BXGD008581 Short clavicle
C0541794 BXGD009262 Skeletal muscle atrophy
C0545053 BXGD009323 Advanced bone age
C0557874 BXGD009444 Global developmental delay
C0575158 BXGD009515 Kyphoscoliosis deformity of spine Musculoskeletal Diseases
C0600033 BXGD009682 Acquired Kyphoscoliosis Musculoskeletal Diseases
C0678230 BXGD009750 Congenital Epicanthus
C0744483 BXGD010100 growth hormone treatment
C1260926 BXGD011844 Abnormal pigmentation
C1843300 BXGD014572 Sparse eyelashes
C1849364 BXGD015045 Absent earlobe
C1849367 BXGD015046 Nasal bridge wide
C1851797 BXGD015235 Palmoplantar cutis gyrata
C1853242 BXGD015322 Midface retrusion
C1855340 BXGD015490 Bowing of the long bones
C1855538 BXGD015507 Small face
C1857042 BXGD015669 Sparse scalp hair
C1857276 BXGD015688 Trichohepatoenteric Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
C1857485 BXGD015709 Flat forehead
C1857710 BXGD015743 Progeroid facial appearance
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1869122 BXGD016552 EHLERS-DANLOS SYNDROME, PROGEROID FORM Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C1956257 BXGD016623 Pulmonary Stenosis Cardiovascular Diseases
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2919142 BXGD017867 Short Stature, CTCAE
C2931009 BXGD017935 Congenital disorder of glycosylation type 2D Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C2985280 BXGD018223 Blood Protein Measurement
C3150613 BXGD018311 Long toe
C3278404 BXGD018740 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
C3553764 BXGD019187 Joint hyperflexibility
C4021168 BXGD020573 Slender toe
C4021596 BXGD020690 Abnormality of primary teeth
C4021626 BXGD020703 Lethal skeletal dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C4282407 BXGD022423 Sparse and thin eyebrow
C4551488 BXGD023314 Bifid uvula
C4552003 BXGD023475 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0003993 Uridine diphosphate 404.16
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