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 Kallmann Syndrome. Among its related pathways are Glycosaminoglycan metabolism and Articular Cartilage Extracellular Matrix Pathway. Gene Ontology (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.