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

Gene ID: 9957, updated on 5-Dec-2018

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 current GRCh38.p12 (GCF_000001405.38) 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

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Glycosaminoglycan biosynthesis - heparan sulfate / heparin, organism-specific biosystem (from KEGG)
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin, organism-specific biosystemHeparan sulfate (HS) and heparin (Hep) are glycosaminoglycans with repeating disaccharide units that consist of alternating residues of alpha-D-glucosamine (GlcN) and uronic acid, the latter being ei...
  • Glycosaminoglycan biosynthesis - heparan sulfate / heparin, conserved biosystem (from KEGG)
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin, conserved biosystemHeparan sulfate (HS) and heparin (Hep) are glycosaminoglycans with repeating disaccharide units that consist of alternating residues of alpha-D-glucosamine (GlcN) and uronic acid, the latter being ei...
  • Glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
    Glycosaminoglycan metabolism, organism-specific biosystemGlycosaminoglycans (GAGs) are long, unbranched polysaccharides containing a repeating disaccharide unit composed of a hexosamine (either N-acetylgalactosamine (GalNAc) or N-acetylglucosamine (GlcNAc)...
  • HS-GAG biosynthesis, organism-specific biosystem (from REACTOME)
    HS-GAG biosynthesis, organism-specific biosystemHeparan sulfate (HS) and heparin (sometimes collectively called HS-GAG) consist of the disaccharide unit GlcNAc-GlcA (N-acetylglucosamine-glucuronic acid) connected by a beta1,4 linkage. Heparin is e...
  • Heparan sulfate/heparin (HS-GAG) metabolism, organism-specific biosystem (from REACTOME)
    Heparan sulfate/heparin (HS-GAG) metabolism, organism-specific biosystemThe acronym HS-GAG is used to describe both heparin and heparan sulfate. HS-GAG is a member of the glycosaminoglycan family and consists of a variably sulfated repeating disaccharide unit, the most ...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Metapathway biotransformation, organism-specific biosystem (from WikiPathways)
    Metapathway biotransformation, organism-specific biosystem
    Metapathway biotransformation
  • heparan sulfate biosynthesis, organism-specific biosystem (from BIOCYC)
    heparan sulfate biosynthesis, organism-specific biosystem
    heparan sulfate biosynthesis
  • heparan sulfate biosynthesis, conserved biosystem (from BIOCYC)
    heparan sulfate biosynthesis, conserved biosystemBackground |FRAME: Heparan-Sulfate "Heparan sulfate"| is a linear polysaccharide found in all animal tissues. It occurs as a proteoglycan in which two or three heparan sulfate chains are attached to...
  • heparan sulfate biosynthesis (late stages), organism-specific biosystem (from BIOCYC)
    heparan sulfate biosynthesis (late stages), organism-specific biosystemBackground : Heparan-Sulfate "Heparan sulfate" is a linear polysaccharide found in all animal tissues. It occurs as a proteoglycan in which two or three heparan sulfate chains are attached to cell s...
  • heparan sulfate biosynthesis (late stages), conserved biosystem (from BIOCYC)
    heparan sulfate biosynthesis (late stages), conserved biosystemBackground |FRAME: Heparan-Sulfate "Heparan sulfate"| is a linear polysaccharide found in all animal tissues. It occurs as a proteoglycan in which two or three heparan sulfate chains are attached to...

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 
[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity TAS
Traceable Author Statement
more info
 
heparan sulfate sulfotransferase 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
 
heparan sulfate proteoglycan biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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_005114.3NP_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)
    AA825270, AC006230, AI478981, AK096823, BC057803, BM547276
    Consensus CDS
    CCDS3408.1
    UniProtKB/Swiss-Prot
    O14792
    UniProtKB/TrEMBL
    A0A024R9R4
    Related
    ENSP00000002596.5, ENST00000002596.5
    Conserved Domains (1) summary
    pfam00685
    Location:54291
    Sulfotransfer_1; Sulfotransferase domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 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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