Jump to content

HS3ST1

From Wikipedia, the free encyclopedia
(Redirected from HS3ST1 (gene))

HS3ST1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesHS3ST1, 3OST, 3OST1, heparan sulfate-glucosamine 3-sulfotransferase 1
External IDsOMIM: 603244; MGI: 1201606; HomoloGene: 3751; GeneCards: HS3ST1; OMA:HS3ST1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005114

NM_010474

RefSeq (protein)

NP_005105

NP_034604

Location (UCSC)Chr 4: 11.39 – 11.43 MbChr 5: 39.77 – 39.91 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Heparan sulfate glucosamine 3-O-sulfotransferase 1 is an enzyme that in humans is encoded by the HS3ST1 gene.[5][6]

Function

[edit]

Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It possesses both heparan sulfate glucosaminyl 3-O-sulfotransferase activity, anticoagulant heparan sulfate conversion activity, and is a rate limiting enzyme for synthesis of anticoagulant heparan. This enzyme is an intraluminal Golgi resident protein.[6]

Clinical significance

[edit]

Polymorphisms in HS3ST1 appear to be a risk factor for developing Alzheimer's disease.[7]

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000002587Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000051022Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Shworak NW, Liu J, Petros LM, Zhang L, Kobayashi M, Copeland NG, Jenkins NA, Rosenberg RD (February 1999). "Multiple isoforms of heparan sulfate D-glucosaminyl 3-O-sulfotransferase. Isolation, characterization, and expression of human cdnas and identification of distinct genomic loci". The Journal of Biological Chemistry. 274 (8): 5170–84. doi:10.1074/jbc.274.8.5170. PMID 9988767.
  6. ^ a b "Entrez Gene: HS3ST1 heparan sulfate (glucosamine) 3-O-sulfotransferase 1".
  7. ^ Witoelar A, Rongve A, Almdahl IS, et al. (2018-12-27). "Meta-analysis of Alzheimer's disease on 9,751 samples from Norway and IGAP study identifies four risk loci". Scientific Reports. 8 (1): 18088. Bibcode:2018NatSR...818088W. doi:10.1038/s41598-018-36429-6. PMC 6308232. PMID 30591712.

Further reading

[edit]
[edit]
  • Overview of all the structural information available in the PDB for UniProt: O14792 (Human Heparan sulfate glucosamine 3-O-sulfotransferase 1) at the PDBe-KB.
  • Overview of all the structural information available in the PDB for UniProt: O35310 (Mouse Heparan sulfate glucosamine 3-O-sulfotransferase 1) at the PDBe-KB.