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

Gene ID: 9957, updated on 15-Jan-2024

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
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Genomic context

See HS3ST1 in Genome Data Viewer
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_000004.12Genomic 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

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_005114.4NP_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:54291
    Sulfotransfer_1; Sulfotransferase domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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_011513913.4XP_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:54291
    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_054351348.1XP_054207323.1  heparan sulfate glucosamine 3-O-sulfotransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    B3KUA6, O14792, Q6PEY8