Homo sapiens Gene: HS6ST1
Summary
InnateDB Gene IDBG-69523.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HS6ST1
Gene Name heparan sulfate 6-O-sulfotransferase 1
Synonyms HH15; HS6ST;
Species Homo sapiens
Ensembl Gene ENSG00000136720
Encoded Proteins
heparan sulfate 6-O-sulfotransferase 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biological activities. This enzyme is a type II integral membrane protein and is responsible for 6-O-sulfation of heparan sulfate. This enzyme does not share significant sequence similarity with other known sulfotransferases. A pseudogene located on chromosome 1 has been found for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:128236716-128318577
Strand Reverse strand
Band q14.3
Transcripts
ENST00000259241 ENSP00000259241
ENST00000469019
ENST00000463963
ENST00000494089
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:0017095 heparan sulfate 6-O-sulfotransferase activity
Biological Process
GO:0001525 angiogenesis
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
GO:0048286 lung alveolus development
GO:0048666 neuron development
GO:0060716 labyrinthine layer blood vessel development
Cellular Component
GO:0000139 Golgi membrane
GO:0005887 integral component of plasma membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
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 O60243
TrEMBL B4E2L3
UniProt Splice Variant
Entrez Gene 9394
UniGene Hs.512841 Hs.715359
RefSeq NM_004807
HUGO HGNC:5201
OMIM 604846
CCDS CCDS42748
HPRD 07274
IMGT
EMBL AB006179 AC017079 AK293724 AK295898 AK304326 BC001196 BC096239 BC096240 BC099638 BC099639
GenPept AAH01196 AAH96239 AAH96240 AAH99638 AAH99639 AAY14736 BAA25760 BAG57153 BAG58691 BAG65175
RNA Seq Atlas 9394