Homo sapiens Gene: HS3ST3B1 | |||||||||||||
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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
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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] |
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Gene Information | |||||||||||||
Type | Protein coding | ||||||||||||
Genomic Location | Chromosome 17:14301083-14349404 | ||||||||||||
Strand | Forward strand | ||||||||||||
Band | p12 | ||||||||||||
Transcripts |
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Interactions | |||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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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
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KEGG |
Glycosaminoglycan biosynthesis pathway
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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 | ||||||||||||