HS3ST3A1

Gene Name		heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1
Image
Gene Ontology Annotations	Cellular Component	Golgi Membrane Integral Component Of Membrane
	Molecular Function	Sulfotransferase Activity [heparan Sulfate]-glucosamine 3-sulfotransferase 3 Activity
	Biological Process	Carbohydrate Metabolic Process Glycosaminoglycan Biosynthetic Process Pathogenesis Glycosaminoglycan Metabolic Process Small Molecule Metabolic Process
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		Adenosine-3\'-5\'-Diphosphate O2-Sulfo-Glucuronic Acid N,O6-Disulfo-Glucosamine 1,4-Dideoxy-5-Dehydro-O2-Sulfo-Glucuronic Acid Citric Acid
Diseases
GWAS		Tonometry ( 17903302)
Protein-protein Interactions		1 interactors: UPF2
Entrez ID		9955
HPRD ID		04958
Ensembl ID		ENSG00000153976
Uniprot IDs		Q9Y663
PDB IDs		1T8T 1T8U
Enriched GO Terms of Interacting Partners?		MRNA Export From Nucleus RNA Export From Nucleus Organ Regeneration Nuclear-transcribed MRNA Catabolic Process, Nonsense-mediated Decay Nuclear Export MRNA Transport RNA Transport Nuclear-transcribed MRNA Catabolic Process RNA Localization Liver Development MRNA Catabolic Process RNA Catabolic Process Nucleocytoplasmic Transport Nuclear Transport Aromatic Compound Catabolic Process Gland Development MRNA Metabolic Process
Tagcloud ?