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HS3ST1 heparan sulfate-glucosamine 3-sulfotransferase 1 [ Homo sapiens (human) ]

Gene ID: 9957, updated on 27-Nov-2024

Summary

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Official Symbol
HS3ST1provided by HGNC
Official Full Name
heparan sulfate-glucosamine 3-sulfotransferase 1provided by HGNC
Primary source
HGNC:HGNC:5194
See related
Ensembl:ENSG00000002587 MIM:603244; AllianceGenome:HGNC:5194
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
3OST; 3OST1
Summary
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. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in urinary bladder (RPKM 2.8), gall bladder (RPKM 0.9) and 19 other tissues See more
Orthologs
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Genomic context

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See HS3ST1 in Genome Data Viewer
Location:
4p15.33
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (11393150..11434327, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (11369209..11410393, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (11394774..11430518, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374488 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:11385598-11386169 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:11398409-11399608 Neighboring gene RNA binding protein with serine rich domain 1 pseudogene 1 Neighboring gene microRNA 572 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21321 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15283 Neighboring gene RNA, 5S ribosomal pseudogene 156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21322 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:11506548-11507747 Neighboring gene uncharacterized LOC107986178 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:11633687-11634886 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:11651807-11653006 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:11700041-11701240 Neighboring gene long intergenic non-protein coding RNA 2360 Neighboring gene microRNA 12113

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Purification of heparan sulfate D-glucosaminyl 3-O-sulfotransferase. Liu J, et al. J Biol Chem, 1996 Oct 25. PMID 8900198
  2. HS3ST1 genotype regulates antithrombin's inflammomodulatory tone and associates with atherosclerosis. Smits NC, et al. Matrix Biol, 2017 Nov. PMID 28126521, Free PMC Article
  3. Bioengineered Chinese hamster ovary cells with Golgi-targeted 3-O-sulfotransferase-1 biosynthesize heparan sulfate with an antithrombin-binding site. Datta P, et al. J Biol Chem, 2013 Dec 27. PMID 24247246, Free PMC Article
  4. Enzymatic modification of heparan sulfate on a biochip promotes its interaction with antithrombin III. Hernaiz M, et al. Biochem Biophys Res Commun, 2000 Sep 16. PMID 11006120
  5. A conformational change in heparan sulfate 3-O-sulfotransferase-1 is induced by binding to heparan sulfate. Edavettal SC, et al. Biochemistry, 2004 Apr 27. PMID 15096036

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Compared with Hs3st1+/+ mice, Hs3st1-/- mice were more susceptible to LPS-induced death due to an increased sensitivity to TNF
    Title: HS3ST1 genotype regulates antithrombin's inflammomodulatory tone and associates with atherosclerosis.
  2. Golgi-targeted HS3st1 localizes in the Golgi and results in the formation of a single type of AT-binding site and high anti-factor Xa activity
    Title: Bioengineered Chinese hamster ovary cells with Golgi-targeted 3-O-sulfotransferase-1 biosynthesize heparan sulfate with an antithrombin-binding site.
  3. In this paper a conformational change is described that occurs in heparan sulfate 3-O-sulfotransferase-1 upon binding to heparan sulfate.
    Title: A conformational change in heparan sulfate 3-O-sulfotransferase-1 is induced by binding to heparan sulfate.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholic fatty liver disease in Japanese.
EBI GWAS Catalog
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity TAS
Traceable Author Statement
more info
  
enables sulfotransferase activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in glycosaminoglycan biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in heparan sulfate proteoglycan biosynthetic process, enzymatic modification TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in Golgi lumen TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
heparan sulfate glucosamine 3-O-sulfotransferase 1
Names
3-OST-1
h3-OST-1
heparan sulfate (glucosamine) 3-O-sulfotransferase 1
heparan sulfate 3-O-sulfotransferase 1
heparan sulfate D-glucosaminyl 3-O-sulfotransferase 1
heparin-glucosamine 3-O-sulfotransferase
NP_005105.1
XP_011512215.1
XP_054207323.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_005114.4 → NP_005105.1  heparan sulfate glucosamine 3-O-sulfotransferase 1 precursor

    See identical proteins and their annotated locations for NP_005105.1

    Status: REVIEWED

    Source sequence(s)
    AC006230
    Consensus CDS
    CCDS3408.1
    UniProtKB/Swiss-Prot
    B3KUA6, O14792, Q6PEY8
    Related
    ENSP00000002596.5, ENST00000002596.6
    Conserved Domains (1) summary
    pfam00685
    Location:54 → 291
    Sulfotransfer_1; Sulfotransferase domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    11393150..11434327 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513913.4 → XP_011512215.1  heparan sulfate glucosamine 3-O-sulfotransferase 1 isoform X1

    See identical proteins and their annotated locations for XP_011512215.1

    UniProtKB/Swiss-Prot
    B3KUA6, O14792, Q6PEY8
    Conserved Domains (1) summary
    pfam00685
    Location:54 → 291
    Sulfotransfer_1; Sulfotransferase domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    11369209..11410393 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054351348.1 → XP_054207323.1  heparan sulfate glucosamine 3-O-sulfotransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    B3KUA6, O14792, Q6PEY8
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O14792.1 GenPept UniProtKB/Swiss-Prot:O14792

Gene LinkOut

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