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

Summary

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: mouse all
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Genomic context

Location:: 4p15.33

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (11393150..11434327, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (11369209..11410393, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (11394774..11430518, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.

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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 EBI GWAS CatalogPubMed
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-31234 (e-PCR)
- UniSTS:167700

G65160 (e-PCR)
- UniSTS:230689

D4S3288 (e-PCR)
- UniSTS:66365

RH78843 (e-PCR)
- UniSTS:24502

AA963021 (e-PCR)
- UniSTS:247992

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

EC 2.8.2.23

XP_011512215.1

EC 2.8.2.23

XP_054207323.1

EC 2.8.2.23

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.