EXT1

Description		exostosin glycosyltransferase 1
Image		No pdb structure
GO Annotations	Cellular Component	Golgi Membrane Endoplasmic Reticulum Endoplasmic Reticulum Membrane Golgi Apparatus Integral Component Of Membrane Integral Component Of Endoplasmic Reticulum Membrane Synapse
	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 Endochondral Ossification Blood Vessel Remodeling Chondrocyte Differentiation Glandular Epithelial Cell Differentiation Hypersensitivity Heart Field Specification Endochondral Bone Growth Glycosaminoglycan Biosynthetic Process Protein Glycosylation Vacuole Organization Signal Transduction Gastrulation Axon Guidance Endoderm Development Mesoderm Development Regulation Of Blood Pressure Fibroblast Growth Factor Receptor Signaling Pathway Response To Virus Response To Light Intensity Gene Expression Neural Crest Cell Differentiation Heparan Sulfate Proteoglycan Biosynthetic Process Heparan Sulfate Proteoglycan Biosynthetic Process, Polysaccharide Chain Biosynthetic Process Stem Cell Division Antigen Processing And Presentation Optic Nerve Development Olfactory Bulb Development Protein Catabolic Process Collagen Fibril Organization Heparin Biosynthetic Process BMP Signaling Pathway Glomerular Basement Membrane Development Cell Adhesion Mediated By Integrin Cellular Polysaccharide Biosynthetic Process Social Behavior Synaptic Transmission, Glutamatergic Chondrocyte Proliferation Limb Joint Morphogenesis Dendritic Cell Migration Lymphocyte Adhesion To Endothelial Cell Of High Endothelial Venule Fluid Transport Wound Healing Vasodilation Fear Response Cell Fate Commitment Multicellular Organismal Water Homeostasis Leukocyte Tethering Or Rolling Sulfation Sodium Ion Homeostasis Heart Contraction Canonical Wnt Signaling Pathway Hematopoietic Stem Cell Differentiation Cartilage Development Involved In Endochondral Bone Morphogenesis Epithelial Tube Branching Involved In Lung Morphogenesis Smoothened Signaling Pathway Involved In Lung Development Developmental Growth Involved In Morphogenesis Motor Behavior Perichondral Bone Morphogenesis Stomach Development Protein-containing Complex Assembly Dendrite Self-avoidance Response To Heparin Vocalization Behavior Basement Membrane Organization Glomerular Visceral Epithelial Cell Differentiation Embryonic Skeletal Joint Development Lymphocyte Migration Into Lymphoid Organs Tight Junction Organization Mesenchymal Cell Differentiation Involved In Bone Development Cranial Skeletal System Development Response To Leukemia Inhibitory Factor
Pathways		HS-GAG biosynthesis Defective EXT2 causes exostoses 2 Defective EXT1 causes exostoses 1, TRPS2 and CHDS
Drugs
Diseases		Heparan sulfate proteoglycan gene defects, including: Dyssegmental dysplasia, Silverman-Handmaker type; Schwartz-Jampel syndrome; Simpson-Golabi-Behmel syndrome, type 1; Omodysplasia 1; Multiple exostoses Multiple exostoses
GWAS		Adult body size ( 32376654) Autism spectrum disorder ( 28540026) Common carotid intima-media thickness ( 29206233) Common carotid intima-media thickness in HIV infection ( 29206233) Depression in smokers ( 30219690) Endometrial cancer (Non-endometrioid histology) ( 30093612) Facial attractiveness (female raters) ( 30946739) General cognitive ability ( 29844566) Height ( 19893584) Household income (MTAG) ( 31844048) Obesity-related traits ( 23251661) Systolic blood pressure x smoking status (current vs non-current) interaction (1df test) ( 29455858) Systolic blood pressure x smoking status (current vs non-current) interaction (2df test) ( 29455858) Urate levels in obese individuals ( 25811787) White blood cell count (basophil) ( 29403010)
Interacting Genes		4 interacting genes: EXT2 FBXW7 NOTCH1 TRAP1
Entrez ID		2131
HPRD ID		00598
Ensembl ID		ENSG00000182197
Uniprot IDs		Q16394
PDB IDs
Enriched GO Terms of Interacting Partners?
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