EXT1

Description		exostosin glycosyltransferase 1
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GO Annotations	Cellular Component	Golgi Membrane Endoplasmic Reticulum Endoplasmic Reticulum Membrane Golgi Apparatus Membrane Organelle Membrane Synapse Catalytic Complex
	Molecular Function	Protein Binding Acetylglucosaminyltransferase Activity Glucuronosyltransferase Activity Transferase Activity Glycosyltransferase Activity 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	Polysaccharide Biosynthetic Process Cell Morphogenesis Ossification Endochondral Ossification Blood Vessel Remodeling Chondrocyte Differentiation Glandular Epithelial Cell Differentiation Hematopoietic Progenitor Cell Differentiation Hypersensitivity Heart Field Specification Chondrocyte Hypertrophy Endochondral Bone Growth Glycosaminoglycan Biosynthetic Process Protein Glycosylation Vacuole Organization Cell Adhesion Cell Surface Receptor Signaling Pathway Smoothened Signaling Pathway Gastrulation Axon Guidance Brain Development Endoderm Development Mesoderm Development Regulation Of Blood Pressure Cell Population Proliferation Fibroblast Growth Factor Receptor Signaling Pathway Response To Virus Response To Light Intensity Gene Expression Regulation Of Tumor Necrosis Factor-mediated Signaling Pathway Neural Crest Cell Differentiation Heparan Sulfate Proteoglycan Biosynthetic Process Stem Cell Division Antigen Processing And Presentation Optic Nerve Development Olfactory Bulb Development Hair Cycle Process Protein Catabolic Process Proteoglycan Biosynthetic Process Collagen Fibril Organization Heparin Proteoglycan Metabolic Process Heparin Proteoglycan Biosynthetic Process BMP Signaling Pathway Hair Follicle Morphogenesis Neuron Projection Development Glomerular Basement Membrane Development Cell Adhesion Mediated By Integrin Social Behavior Synaptic Transmission, Glutamatergic Multicellular Organism Growth Chondrocyte Proliferation Limb Joint Morphogenesis Dendritic Cell Migration Lymphocyte Adhesion To Endothelial Cell Of High Endothelial Venule Fluid Transport Wound Healing Vasodilation Fear Response Ossification Involved In Bone Maturation Cellular Response To Fibroblast Growth Factor Stimulus Cell Fate Commitment Bone Resorption Embryonic Morphogenesis Sebaceous Gland Development Chondroitin Sulfate Proteoglycan Metabolic Process Multicellular Organismal-level Water Homeostasis Leukocyte Tethering Or Rolling Sulfation Sodium Ion Homeostasis Heart Contraction Canonical Wnt Signaling Pathway Hematopoietic Stem Cell Differentiation Bone Morphogenesis Endochondral Bone Morphogenesis Cartilage Development Involved In Endochondral Bone Morphogenesis Epithelium Development Epithelial Tube Branching Involved In Lung Morphogenesis Mesenchyme Development Smoothened Signaling Pathway Involved In Lung Development Developmental Growth Involved In Morphogenesis Sweat Gland Development Hematopoietic Stem Cell Homeostasis Motor Behavior Perichondral Bone Morphogenesis Stomach Development Protein-containing Complex Assembly Dendrite Self-avoidance Response To Growth Factor Response To Heparin Vocalization Behavior Basement Membrane Organization Cellular Response To BMP Stimulus Podocyte Differentiation Embryonic Skeletal Joint Development Lymphocyte Migration Into Lymphoid Organs Hematopoietic Stem Cell Migration To Bone Marrow Cellular Response To Virus Bone Growth 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		Multiple exostoses Heparan sulfate proteoglycan gene defects, including: Dyssegmental dysplasia, Silverman-Handmaker type; Schwartz-Jampel syndrome; Simpson-Golabi-Behmel syndrome, type 1; Omodysplasia 1; 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		6 interacting genes: EXT2 FBXW7 GOLPH3 GOLPH3L NOTCH1 TRAP1
Entrez ID		2131
HPRD ID		00598
Ensembl ID		ENSG00000182197
Uniprot IDs		Q16394
PDB IDs		7SCH 7SCJ 7SCK 7UQX 7UQY 7ZAY
Enriched GO Terms of Interacting Partners?		Golgi Vesicle Budding Cargo Adaptor Activity Protein Targeting To Golgi Apparatus Golgi Cisterna Golgi Membrane Phosphatidylinositol-4-phosphate Binding Golgi To Plasma Membrane Protein Transport Vesicle Budding From Membrane Gene Expression Regulation Of Oxidative Stress-induced Intrinsic Apoptotic Signaling Pathway Retrograde Vesicle-mediated Transport, Golgi To Endoplasmic Reticulum Positive Regulation Of Establishment Of Protein Localization Establishment Of Protein Localization To Organelle Establishment Of Protein Localization To Plasma Membrane Golgi To Plasma Membrane Transport Golgi Cisterna Membrane Notch Signaling Pathway Involved In Regulation Of Secondary Heart Field Cardioblast Proliferation Venous Endothelial Cell Differentiation Coronary Sinus Valve Morphogenesis Foregut Morphogenesis Mitochondrial Intermembrane Space N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase Activity Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase Activity UDP-N-acetylglucosamine Transferase Complex Heparan Sulfate N-acetylglucosaminyltransferase Activity MAML1-RBP-Jkappa- ICN1 Complex Apoptotic Process Involved In Embryonic Digit Morphogenesis Vasculogenesis Involved In Coronary Vascular Morphogenesis Regulation Of Notch Signaling Pathway Negative Regulation Of Inner Ear Auditory Receptor Cell Differentiation Distal Tubule Development Negative Regulation Of Epithelial Cell Proliferation Auditory Receptor Cell Fate Commitment Notch Signaling Involved In Heart Development Regulation Of Aorta Morphogenesis Growth Involved In Heart Morphogenesis Negative Regulation Of Lymphoid Progenitor Cell Differentiation Negative Regulation Of Inner Ear Receptor Cell Differentiation Epidermal Cell Fate Specification Endocardium Morphogenesis Retinal Cone Cell Differentiation Negative Regulation Of Cell Proliferation Involved In Heart Morphogenesis Negative Regulation Of Pro-B Cell Differentiation Cardiac Right Ventricle Formation Glomerular Mesangial Cell Development Regulation Of Apoptotic Process Cell Migration Involved In Endocardial Cushion Formation Chemical Synaptic Transmission, Postsynaptic Compartment Pattern Specification Mitral Valve Formation
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