Homo sapiens Gene: HS3ST3A1
Summary
InnateDB Gene IDBG-31321.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HS3ST3A1
Gene Name heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1
Synonyms 30ST3A1; 3OST3A1;
Species Homo sapiens
Ensembl Gene ENSG00000153976
Encoded Proteins
heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1
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 17:13495689-13601927
Strand Reverse strand
Band p12
Transcripts
ENST00000284110 ENSP00000284110
ENST00000578576 ENSP00000462696
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [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:0033872 [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006024 glycosaminoglycan biosynthetic process
GO:0008152 metabolic process
GO:0030203 glycosaminoglycan metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0000139 Golgi membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Method
Confidence
Comments
Low
Tentative data, uncurated. RBBH derived.
Pathways
NETPATH
REACTOME
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
HS-GAG biosynthesis 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 BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL J3KSX5
UniProt Splice Variant
Entrez Gene 9955
UniGene Hs.462270
RefSeq NM_006042
HUGO HGNC:5196
OMIM 604057
CCDS CCDS11165
HPRD 04958
IMGT
EMBL AC005375 AC005411
GenPept
RNA Seq Atlas 9955