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

Gene ID: 9957, updated on 22-Aug-2020

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
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

Genomic context

See HS3ST1 in Genome Data Viewer
Location:
4p15.33
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (11393150..11434398, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (11399988..11431255, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374488 Neighboring gene RNA binding protein with serine rich domain 1 pseudogene 1 Neighboring gene microRNA 572 Neighboring gene RNA, 5S ribosomal pseudogene 156 Neighboring gene uncharacterized LOC107986178 Neighboring gene long intergenic non-protein coding RNA 2360 Neighboring gene uncharacterized LOC105374483 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

Associated conditions

Description Tests
Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholic fatty liver disease in Japanese.
GeneReviews: Not available
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sulfotransferase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
glycosaminoglycan biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi lumen TAS
Traceable Author Statement
more info
 

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

NCBI Reference Sequences (RefSeq)

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
    O14792
    UniProtKB/TrEMBL
    A0A024R9R4
    Related
    ENSP00000002596.5, ENST00000002596.6
    Conserved Domains (1) summary
    pfam00685
    Location:54291
    Sulfotransfer_1; Sulfotransferase domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    11393150..11434398 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513913.3XP_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
    O14792
    UniProtKB/TrEMBL
    A0A024R9R4
    Conserved Domains (1) summary
    pfam00685
    Location:54291
    Sulfotransfer_1; Sulfotransferase domain
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