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 conversio... See more...

Aliases for HS3ST1 Gene

Aliases for HS3ST1 Gene

  • Heparan Sulfate-Glucosamine 3-Sulfotransferase 1 2 3 5
  • 3OST1 2 3 4
  • Heparan Sulfate D-Glucosaminyl 3-O-Sulfotransferase 1 3 4
  • Heparan Sulfate (Glucosamine) 3-O-Sulfotransferase 1 2 3
  • Heparan Sulfate Glucosamine 3-O-Sulfotransferase 1 3 4
  • Heparan Sulfate 3-O-Sulfotransferase 1 3 4
  • EC 2.8.2.23 4 51
  • H3-OST-1 3 4
  • 3-OST-1 3 4
  • 3OST 3 4
  • Heparin-Glucosamine 3-O-Sulfotransferase 3
  • EC 2.8.2 51
  • HS3ST1 5

External Ids for HS3ST1 Gene

Previous GeneCards Identifiers for HS3ST1 Gene

  • GC04M011074
  • GC04M011350
  • GC04M011151
  • GC04M011076
  • GC04M011009
  • GC04M010732

Summaries for HS3ST1 Gene

Entrez Gene Summary for HS3ST1 Gene

  • 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]

GeneCards Summary for HS3ST1 Gene

HS3ST1 (Heparan Sulfate-Glucosamine 3-Sulfotransferase 1) is a Protein Coding gene. Diseases associated with HS3ST1 include Arteriosclerosis and Spherocytosis, Type 3. Among its related pathways are Cytochrome P450 - arranged by substrate type and heparan sulfate biosynthesis. Gene Ontology (GO) annotations related to this gene include sulfotransferase activity and [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity. An important paralog of this gene is HS3ST5.

UniProtKB/Swiss-Prot Summary for HS3ST1 Gene

  • Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to position 3 of glucosamine residues in heparan. Catalyzes the rate limiting step in the biosynthesis of heparan sulfate (HSact). This modification is a crucial step in the biosynthesis of anticoagulant heparan sulfate as it completes the structure of the antithrombin pentasaccharide binding site.

Gene Wiki entry for HS3ST1 Gene

Additional gene information for HS3ST1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HS3ST1 Gene

Genomics for HS3ST1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HS3ST1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J011426 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 600.4 +5.8 5776 4.4 CTCF ZNF143 RAD21 EZH2 CTBP1 ZNF444 SMC3 ZBTB17 YY1 POLR2A ENSG00000287778 HS3ST1 CLNK
GH04J011469 Promoter/Enhancer 1.2 FANTOM5 Ensembl ENCODE 10.9 -36.7 -36738 3.3 POLR2A EED RUNX3 MAFF TCF12 MAFK NR2F2 JUNB SPI1 BATF ENSG00000251152 HS3ST1 ENSG00000249631 lnc-DRD5-30 LOC107986178
GH04J011480 Enhancer 1.1 FANTOM5 Ensembl ENCODE 10.9 -50.7 -50703 13.4 ATF7 EED CEBPB CTCF JUND EP300 CEBPG JUNB SPI1 STAT3 HS3ST1 ENSG00000251152 lnc-DRD5-30 ENSG00000249631 LOC107986178 piR-45267
GH04J011610 Enhancer 1 Ensembl ENCODE dbSUPER 10.3 -179.7 -179729 4.7 TARDBP FOXA1 REST CEBPB SP1 CTBP1 NFE2 ESRRA ZNF217 GATA3 HS3ST1 piR-57981 piR-31534-512 ENSG00000249631 LOC107986178
GH04J011504 Enhancer 0.9 Ensembl ENCODE dbSUPER 10.8 -71.2 -71165 2.8 TCF7L2 NR3C1 CEBPB JUN JUND MAX EP300 STAT3 TRIM28 FOS HS3ST1 ENSG00000251152 lnc-DRD5-30 piR-45267 ENSG00000249631 LOC107986178
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HS3ST1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HS3ST1

Top Transcription factor binding sites by QIAGEN in the HS3ST1 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • Pbx1a
  • POU2F1
  • POU2F1a
  • POU2F1b
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for HS3ST1 Gene

Genomic Locations for HS3ST1 Gene
chr4:11,393,150-11,434,398
(GRCh38/hg38)
Size:
41,249 bases
Orientation:
Minus strand
chr4:11,394,774-11,431,389
(GRCh37/hg19)
Size:
36,616 bases
Orientation:
Minus strand

Genomic View for HS3ST1 Gene

Genes around HS3ST1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HS3ST1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HS3ST1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HS3ST1 Gene

Proteins for HS3ST1 Gene

  • Protein details for HS3ST1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14792-HS3S1_HUMAN
    Recommended name:
    Heparan sulfate glucosamine 3-O-sulfotransferase 1
    Protein Accession:
    O14792
    Secondary Accessions:
    • B3KUA6
    • Q6PEY8

    Protein attributes for HS3ST1 Gene

    Size:
    307 amino acids
    Molecular mass:
    35773 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for HS3ST1 Gene

neXtProt entry for HS3ST1 Gene

Selected DME Specific Peptides for HS3ST1 Gene

O14792:
  • IIIGVRKGGTRALLEML
  • KGGTRALLE
  • FYFNKTKGF

Post-translational modifications for HS3ST1 Gene

  • Glycosylation at Asn48, Asn192, Asn242, and Asn249
  • Modification sites at PhosphoSitePlus

Other Protein References for HS3ST1 Gene

Domains & Families for HS3ST1 Gene

Gene Families for HS3ST1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for HS3ST1 Gene

Suggested Antigen Peptide Sequences for HS3ST1 Gene

GenScript: Design optimal peptide antigens:
  • Heparan sulfate D-glucosaminyl 3-O-sulfotransferase 1 (HS3S1_HUMAN)
  • HS3ST1 protein (Q05CH3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14792

UniProtKB/Swiss-Prot:

HS3S1_HUMAN :
  • Belongs to the sulfotransferase 1 family.
Family:
  • Belongs to the sulfotransferase 1 family.
genes like me logo Genes that share domains with HS3ST1: view

Function for HS3ST1 Gene

Molecular function for HS3ST1 Gene

UniProtKB/Swiss-Prot Function:
Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to position 3 of glucosamine residues in heparan. Catalyzes the rate limiting step in the biosynthesis of heparan sulfate (HSact). This modification is a crucial step in the biosynthesis of anticoagulant heparan sulfate as it completes the structure of the antithrombin pentasaccharide binding site.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = 3-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n) + adenosine 3',5'-bisphosphate + H(+); Xref=Rhea:RHEA:15461, Rhea:RHEA-COMP:9830, Rhea:RHEA-COMP:9831, ChEBI:CHEBI:15378, ChEBI:CHEBI:58339, ChEBI:CHEBI:58343, ChEBI:CHEBI:58388, ChEBI:CHEBI:70975; EC=2.8.2.23;.

Enzyme Numbers (IUBMB) for HS3ST1 Gene

Phenotypes From GWAS Catalog for HS3ST1 Gene

Gene Ontology (GO) - Molecular Function for HS3ST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008146 sulfotransferase activity IEA,TAS 9988767
GO:0008467 [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity IBA 21873635
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with HS3ST1: view
genes like me logo Genes that share phenotypes with HS3ST1: view

Animal Models for HS3ST1 Gene

MGI Knock Outs for HS3ST1:

Animal Model Products

CRISPR Products

miRNA for HS3ST1 Gene

miRTarBase miRNAs that target HS3ST1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HS3ST1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HS3ST1 Gene

Localization for HS3ST1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HS3ST1 Gene

Golgi apparatus lumen.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HS3ST1 gene
Compartment Confidence
golgi apparatus 4
extracellular 3
endoplasmic reticulum 2
plasma membrane 1
cytoskeleton 1
nucleus 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HS3ST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0005796 Golgi lumen TAS --
genes like me logo Genes that share ontologies with HS3ST1: view

Pathways & Interactions for HS3ST1 Gene

genes like me logo Genes that share pathways with HS3ST1: view

Interacting Proteins for HS3ST1 Gene

Gene Ontology (GO) - Biological Process for HS3ST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006024 glycosaminoglycan biosynthetic process TAS --
genes like me logo Genes that share ontologies with HS3ST1: view

No data available for SIGNOR curated interactions for HS3ST1 Gene

Drugs & Compounds for HS3ST1 Gene

(4) Drugs for HS3ST1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine 3',5'-diphosphate Experimental Pharma Target 0
3'-phospho-5'-adenylyl sulfate Experimental Pharma 0

(2) Additional Compounds for HS3ST1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HS3ST1: view

Transcripts for HS3ST1 Gene

mRNA/cDNA for HS3ST1 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HS3ST1

Alternative Splicing Database (ASD) splice patterns (SP) for HS3ST1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6
SP1:
SP2: - - - -

Relevant External Links for HS3ST1 Gene

GeneLoc Exon Structure for
HS3ST1

Expression for HS3ST1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HS3ST1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HS3ST1 Gene

This gene is overexpressed in Ovary (x9.3), Brain - Cerebellar Hemisphere (x6.1), and Brain - Cerebellum (x5.2).

Protein differential expression in normal tissues from HIPED for HS3ST1 Gene

This gene is overexpressed in Islet of Langerhans (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HS3ST1 Gene



Protein tissue co-expression partners for HS3ST1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HS3ST1

SOURCE GeneReport for Unigene cluster for HS3ST1 Gene:

Hs.507348

mRNA Expression by UniProt/SwissProt for HS3ST1 Gene:

O14792-HS3S1_HUMAN
Tissue specificity: Highly expressed in the brain and kidney and weakly expressed in the heart, lung and placenta.

Evidence on tissue expression from TISSUES for HS3ST1 Gene

  • Nervous system(4.9)
  • Eye(3.5)
  • Skin(3.2)
  • Intestine(3.1)
  • Lung(3.1)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with HS3ST1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for HS3ST1 Gene

Orthologs for HS3ST1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HS3ST1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HS3ST1 30 31
  • 99.46 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HS3ST1 30 31
  • 91.1 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HS3ST1 30
  • 90.54 (n)
3OST1 31
  • 90 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Hs3st1 30 17 31
  • 84.69 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hs3st1 30
  • 84.35 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia HS3ST1 31
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HS3ST1 30 31
  • 71.1 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HS3ST1 31
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hs3st1 30
  • 66.67 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398971 30
Zebrafish
(Danio rerio)
Actinopterygii hs3st1 30 31
  • 65.27 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Hs3st-A 31
  • 23 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea hst-3 32
  • 44 (a)
hst-3.1 31
  • 38 (a)
OneToMany
Species where no ortholog for HS3ST1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for HS3ST1 Gene

ENSEMBL:
Gene Tree for HS3ST1 (if available)
TreeFam:
Gene Tree for HS3ST1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HS3ST1: view image

Paralogs for HS3ST1 Gene

(9) SIMAP similar genes for HS3ST1 Gene using alignment to 3 proteins:

  • HS3S1_HUMAN
  • E9PDE3_HUMAN
  • Q05CH3_HUMAN
genes like me logo Genes that share paralogs with HS3ST1: view

Variants for HS3ST1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HS3ST1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs16881446 Risk Factor: Coronary artery disease; Arteriosclerosis 11,406,961(-) T/C INTRON_VARIANT
rs11559238 - p.Pro22Thr
rs34719057 - p.Lys295Arg

Additional dbSNP identifiers (rs#s) for HS3ST1 Gene

Structural Variations from Database of Genomic Variants (DGV) for HS3ST1 Gene

Variant ID Type Subtype PubMed ID
esv3599645 CNV loss 21293372
nsv1000613 CNV loss 25217958
nsv1010891 CNV loss 25217958
nsv829862 CNV gain+loss 17160897

Variation tolerance for HS3ST1 Gene

Residual Variation Intolerance Score: 27.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.62; 56.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HS3ST1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HS3ST1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HS3ST1 Gene

Disorders for HS3ST1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for HS3ST1 Gene - From: ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
arteriosclerosis
  • arteriosclerotic vascular disease
spherocytosis, type 3
  • hs3
coronary heart disease 1
  • coronary heart disease, susceptibility to, 1
overhydrated hereditary stomatocytosis
  • ohst
acute retinal necrosis syndrome
  • acute retinal necrosis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HS3ST1

genes like me logo Genes that share disorders with HS3ST1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HS3ST1 Gene

Publications for HS3ST1 Gene

  1. Multiple isoforms of heparan sulfate D-glucosaminyl 3-O-sulfotransferase. Isolation, characterization, and expression of human cdnas and identification of distinct genomic loci. (PMID: 9988767) Shworak NW … Rosenberg RD (The Journal of biological chemistry 1999) 2 3 4 23
  2. Expression of heparan sulfate D-glucosaminyl 3-O-sulfotransferase isoforms reveals novel substrate specificities. (PMID: 9988768) Liu J … Rosenberg RD (The Journal of biological chemistry 1999) 3 4 23
  3. Molecular cloning and expression of mouse and human cDNAs encoding heparan sulfate D-glucosaminyl 3-O-sulfotransferase. (PMID: 9346953) Shworak NW … Rosenberg RD (The Journal of biological chemistry 1997) 3 4 23
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for HS3ST1 Gene

Sources for HS3ST1 Gene