HS3ST1

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

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
Gene location (Human)
Chr.Chromosome 4 (human)[1]
Band4p15.33Start11,393,150 bp[1]
End11,429,564 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

9957

15476

Ensembl

ENSG00000002587

ENSMUSG00000051022

UniProt

O14792

O35310

RefSeq (mRNA)

NM_005114

NM_010474

RefSeq (protein)

NP_005105

NP_034604

Location (UCSC)Chr 4: 11.39 – 11.43 MbChr 5: 39.61 – 39.76 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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

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

References

  1. GRCh38: Ensembl release 89: ENSG00000002587 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000051022 - Ensembl, 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. "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. doi:10.1038/s41598-018-36429-6. PMC 6308232. PMID 30591712.

Further reading

  • 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.


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.