Aliases for HS6ST1 Gene
External Ids for HS6ST1 Gene
Previous HGNC Symbols for HS6ST1 Gene
Previous GeneCards Identifiers for HS6ST1 Gene
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]
GeneCards Summary for HS6ST1 Gene
HS6ST1 (Heparan Sulfate 6-O-Sulfotransferase 1) is a Protein Coding gene. Diseases associated with HS6ST1 include hypogonadotropic hypogonadism 15 with or without anosmia and hs6st1-related isolated gonadotropin-releasing hormone deficiency. Among its related pathways are Metabolism and heparan sulfate biosynthesis. GO annotations related to this gene include sulfotransferase activity and heparan sulfate 6-O-sulfotransferase activity. An important paralog of this gene is HS6ST3.
UniProtKB/Swiss-Prot for HS6ST1 Gene
6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3-phosphoadenosine 5-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate. Critical for normal neuronal development where it may play a role in neuron branching. May also play a role in limb development. May prefer iduronic acid.