Homo sapiens Gene: HS2ST1
Summary
InnateDB Gene IDBG-100108.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HS2ST1
Gene Name heparan sulfate 2-O-sulfotransferase 1
Synonyms dJ604K5.2;
Species Homo sapiens
Ensembl Gene ENSG00000153936
Encoded Proteins
heparan sulfate 2-O-sulfotransferase 1
heparan sulfate 2-O-sulfotransferase 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation from Orthologs
Summary
[Mus musculus] Inactivation of Hs2st1 in neutrophils substantially reduces their bactericidal activity, and Hs2st1-deficient mice are more susceptible to systemic infection with the pathogenic bacterium group B Streptococcus.
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. This gene encodes a member of the heparan sulfate biosynthetic enzyme family that transfers sulfate to the 2 position of the iduronic acid residue of heparan sulfate. The disruption of this gene resulted in no kidney formation in knockout embryonic mice, indicating that the absence of this enzyme may interfere with the signaling required for kidney formation. Two alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Aug 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:86914648-87109998
Strand Forward strand
Band p22.3
Transcripts
ENST00000370551 ENSP00000359582
ENST00000370550 ENSP00000359581
ENST00000591456 ENSP00000467253
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:0001733 galactosylceramide sulfotransferase activity
GO:0008146 sulfotransferase activity
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006024 glycosaminoglycan biosynthetic process
GO:0008152 metabolic process
GO:0009058 biosynthetic process
GO:0030203 glycosaminoglycan metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
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 K7EP71
UniProt Splice Variant
Entrez Gene 9653
UniGene Hs.48823 Hs.598948 Hs.604582 Hs.743280
RefSeq NM_001134492 NM_012262
HUGO HGNC:5193
OMIM 604844
CCDS CCDS44171 CCDS711
HPRD 09215
IMGT
EMBL AC093155 AL121989 AL139139
GenPept
RNA Seq Atlas 9653