Homo sapiens Gene: HS3ST1
Summary
InnateDB Gene IDBG-10050.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HS3ST1
Gene Name heparan sulfate (glucosamine) 3-O-sulfotransferase 1
Synonyms 3OST; 3OST1
Species Homo sapiens
Ensembl Gene ENSG00000002587
Encoded Proteins
heparan sulfate (glucosamine) 3-O-sulfotransferase 1
heparan sulfate (glucosamine) 3-O-sulfotransferase 1
heparan sulfate (glucosamine) 3-O-sulfotransferase 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It possesses both heparan sulfate glucosaminyl 3-O-sulfotransferase activity, anticoagulant heparan sulfate conversion activity, and is a rate limiting enzyme for synthesis of anticoagulant heparan. This enzyme is an intraluminal Golgi resident protein. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:11393150-11429765
Strand Reverse strand
Band p15.33
Transcripts
ENST00000002596 ENSP00000002596
ENST00000514690 ENSP00000425673
ENST00000510712 ENSP00000422629
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0008146 sulfotransferase activity
GO:0008467 [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006024 glycosaminoglycan biosynthetic process
GO:0030203 glycosaminoglycan metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005796 Golgi lumen
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
HS-GAG biosynthesis pathway
Mucopolysaccharidoses pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective SLC26A2 causes chondrodysplasias pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Defective CHST14 causes EDS, musculocontractural type pathway
Heparan sulfate/heparin (HS-GAG) metabolism pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
MPS II - Hunter syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
Glycosaminoglycan biosynthesis pathway
INOH
PID NCI
Cross-References
SwissProt O14792
TrEMBL A0A024R9R4 E9PDE3 Q05CH3
UniProt Splice Variant
Entrez Gene 9957
UniGene Hs.507348 Hs.605349
RefSeq NM_005114 XM_005248221
HUGO HGNC:5194
OMIM 603244
CCDS CCDS3408
HPRD
IMGT
EMBL AC006230 AF019386 AK096823 BC025735 BC057803 CH471069
GenPept AAB84388 AAH25735 AAH57803 BAG53368 EAW92699 EAW92700 EAW92701 EAW92702
RNA Seq Atlas 9957