Homo sapiens Gene: HS3ST3B1
Summary
InnateDB Gene IDBG-31438.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HS3ST3B1
Gene Name heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1
Synonyms 30ST3B1; 3OST3B1
Species Homo sapiens
Ensembl Gene ENSG00000125430
Encoded Proteins
heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1
heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1
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 is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. The sulfotransferase domain of this enzyme is highly similar to the same domain of heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3A1, and these two enzymes sulfate an identical disaccharide. This gene is widely expressed, with the most abundant expression in liver and placenta. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:14301083-14349404
Strand Forward strand
Band p12
Transcripts
ENST00000360954 ENSP00000354213
ENST00000466596 ENSP00000436078
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0008146 sulfotransferase activity
GO:0008467 [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity
GO:0033872 [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006024 glycosaminoglycan biosynthetic process
GO:0015012 heparan sulfate proteoglycan biosynthetic process
GO:0015015 heparan sulfate proteoglycan biosynthetic process, enzymatic modification
GO:0030203 glycosaminoglycan metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0000139 Golgi membrane
GO:0005887 integral component of plasma 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 Q9Y662
TrEMBL
UniProt Splice Variant
Entrez Gene 9953
UniGene Hs.48384 Hs.610639 Hs.621267
RefSeq NM_006041
HUGO HGNC:5198
OMIM 604058
CCDS CCDS11167
HPRD 04959
IMGT
EMBL AF105377 AK023723 BC063301 BC069664 BC069725 CH471108
GenPept AAD30209 AAH63301 AAH69664 AAH69725 BAG51220 EAW89953 EAW89954
RNA Seq Atlas 9953