Homo sapiens Gene: HS2ST1 | |||||||||||||
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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
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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.
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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] |
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Gene Information | |||||||||||||
Type | Protein coding | ||||||||||||
Genomic Location | Chromosome 1:86914648-87109998 | ||||||||||||
Strand | Forward strand | ||||||||||||
Band | p22.3 | ||||||||||||
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 | Q7LGA3 | ||||||||||||
TrEMBL | K7EP71 | ||||||||||||
UniProt Splice Variant | |||||||||||||
Entrez Gene | 9653 | ||||||||||||
UniGene | Hs.48823 Hs.598948 Hs.604582 Hs.743280 | ||||||||||||
RefSeq | NM_012262 NM_001134492 | ||||||||||||
HUGO | HGNC:5193 | ||||||||||||
OMIM | 604844 | ||||||||||||
CCDS | CCDS711 CCDS44171 | ||||||||||||
HPRD | 09215 | ||||||||||||
IMGT | |||||||||||||
EMBL | AB007917 AB024568 AC093155 AK002179 AL121989 AL139139 BC025384 BC025990 BC108735 CH471097 | ||||||||||||
GenPept | AAH25384 AAH25990 AAI08736 BAA32293 BAA89250 BAA92125 CAC04187 CAI19004 EAW73171 EAW73172 | ||||||||||||
RNA Seq Atlas | 9653 | ||||||||||||