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
	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 Glycosaminoglycan Biosynthetic Process Protein Glycosylation Signal Transduction Gastrulation Axon Guidance Endoderm Development Mesoderm Development Heparan Sulfate Proteoglycan Biosynthetic Process Heparan Sulfate Proteoglycan Biosynthetic Process, Polysaccharide Chain Biosynthetic Process Olfactory Bulb Development Cellular Polysaccharide Biosynthetic Process Embryonic Skeletal Joint Development
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		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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