EXT1

Gene Name		exostosin glycosyltransferase 1
Image		No pdb structure
Gene Ontology Annotations	Cellular Component	Golgi Membrane Endoplasmic Reticulum Endoplasmic Reticulum Membrane Golgi Apparatus Integral Component Of Membrane Integral Component Of Endoplasmic Reticulum Membrane
	Molecular Function	Acetylglucosaminyltransferase Activity Glucuronosyltransferase Activity Transferase Activity, Transferring Glycosyl Groups Heparan Sulfate N-acetylglucosaminyltransferase Activity Protein Homodimerization Activity Metal Ion Binding Protein Heterodimerization Activity Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase Activity N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase Activity
	Biological Process	Skeletal System Development Ossification Carbohydrate Metabolic Process Glycosaminoglycan Biosynthetic Process Protein Glycosylation Signal Transduction Gastrulation Axon Guidance Endoderm Development Mesoderm Development Pathogenesis Heparan Sulfate Proteoglycan Biosynthetic Process Heparan Sulfate Proteoglycan Biosynthetic Process, Polysaccharide Chain Biosynthetic Process Olfactory Bulb Development Glycosaminoglycan Metabolic Process Cellular Polysaccharide Biosynthetic Process Small Molecule Metabolic Process Embryonic Skeletal Joint Development
Pathways		MPS IIIB - Sanfilippo syndrome B Diseases of glycosylation Defective B4GALT7 causes EDS, progeroid type Heparan sulfate/heparin (HS-GAG) metabolism MPS I - Hurler syndrome MPS IX - Natowicz syndrome Glycosaminoglycan metabolism Defective SLC26A2 causes chondrodysplasias Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) Defective CHST14 causes EDS, musculocontractural type Defective PAPSS2 causes SEMD-PA MPS IIIA - Sanfilippo syndrome A Myoclonic epilepsy of Lafora MPS IIID - Sanfilippo syndrome D Defective CHST6 causes MCDC1 Glycogen storage diseases MPS IIIC - Sanfilippo syndrome C Diseases associated with glycosaminoglycan metabolism Mucopolysaccharidoses Defective EXT2 causes exostoses 2 MPS II - Hunter syndrome Defective CHST3 causes SEDCJD Defective B3GAT3 causes JDSSDHD Defective EXT1 causes exostoses 1, TRPS2 and CHDS MPS IV - Morquio syndrome A Defective CHSY1 causes TPBS MPS IV - Morquio syndrome B Metabolism of carbohydrates MPS VII - Sly syndrome HS-GAG biosynthesis MPS VI - Maroteaux-Lamy syndrome
Drugs
Diseases
GWAS		Height ( 19893584) Obesity-related traits ( 23251661)
Protein-protein Interactions		2 interactors: EXT2 TRAP1
Entrez ID		2131
HPRD ID		00598
Ensembl ID
Uniprot IDs		Q16394
PDB IDs
Enriched GO Terms of Interacting Partners?		Heparan Sulfate Proteoglycan Biosynthetic Process, Polysaccharide Chain Biosynthetic Process Negative Regulation Of Cellular Respiration Regulation Of Cellular Respiration Negative Regulation Of Oxidative Stress-induced Intrinsic Apoptotic Signaling Pathway Negative Regulation Of Reactive Oxygen Species Biosynthetic Process Regulation Of Oxidative Stress-induced Intrinsic Apoptotic Signaling Pathway Negative Regulation Of Oxidative Stress-induced Cell Death Heparan Sulfate Proteoglycan Biosynthetic Process Heparan Sulfate Proteoglycan Metabolic Process Cellular Polysaccharide Biosynthetic Process Polysaccharide Biosynthetic Process Negative Regulation Of Reactive Oxygen Species Metabolic Process Regulation Of Cellular Response To Oxidative Stress Proteoglycan Biosynthetic Process Chaperone-mediated Protein Folding Regulation Of Reactive Oxygen Species Biosynthetic Process Regulation Of Generation Of Precursor Metabolites And Energy Polysaccharide Metabolic Process Mesoderm Formation Mesoderm Morphogenesis Negative Regulation Of Intrinsic Apoptotic Signaling Pathway Glycosaminoglycan Biosynthetic Process Proteoglycan Metabolic Process Formation Of Primary Germ Layer Mesoderm Development Carbohydrate Biosynthetic Process Regulation Of Intrinsic Apoptotic Signaling Pathway Regulation Of Reactive Oxygen Species Metabolic Process Glycosaminoglycan Metabolic Process Gastrulation Pathogenesis
Tagcloud ?		alters benign cartilaginous chondrocytes chondrogenesis chondrosarcoma chondrosarcomas druggable ext2 hit idh1 idh2 ihh involve late malignant notion outlining prb predisposing pthrp sarcoma scenario shifted stage summarizes thereby transformation underlies