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Aliases for HS3ST1 Gene

Aliases for HS3ST1 Gene

  • Heparan Sulfate-Glucosamine 3-Sulfotransferase 1 2 3 5
  • Heparan Sulfate D-Glucosaminyl 3-O-Sulfotransferase 1 3 4
  • Heparan Sulfate (Glucosamine) 3-O-Sulfotransferase 1 2 3
  • Heparan Sulfate 3-O-Sulfotransferase 1 3 4
  • EC 2.8.2.23 4 61
  • H3-OST-1 3 4
  • 3-OST-1 3 4
  • 3OST1 3 4
  • 3OST 3 4
  • Heparan Sulfate Glucosamine 3-O-Sulfotransferase 1 3
  • Heparin-Glucosamine 3-O-Sulfotransferase 3
  • EC 2.8.2 61

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 Spherocytosis, Type 3 and Hereditary Spherocytosis. Among its related pathways are Glycosaminoglycan metabolism and heparan sulfate biosynthesis. 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 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HS3ST1 Gene

Genomics for HS3ST1 Gene

Regulatory Elements for HS3ST1 Gene

Enhancers for HS3ST1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G011487 1.3 FANTOM5 Ensembl ENCODE 10.9 -58.4 -58439 0.8 CTCF CEBPB JUNB MAX CEBPG EP300 RAD21 JUND SMARCA4 STAT3 HS3ST1 ENSG00000251152 PIR38266
GH04G011469 1.3 FANTOM5 Ensembl ENCODE 10.8 -41.4 -41372 3.3 JUNB EBF1 EP300 GABPA NR2F2 POLR2A SMARCA4 GATA2 EED POU5F1 HS3ST1 ENSG00000251152 PIR38266
GH04G011504 1.2 Ensembl ENCODE dbSUPER 10.7 -75.8 -75799 2.8 TAF1 JUN MAX CEBPB EP300 GATA3 JUND GATA2 STAT3 FOS HS3ST1 ENSG00000251152 PIR38266
GH04G011630 1.2 Ensembl ENCODE dbSUPER 10.1 -204.0 -203988 6.9 CTCF JUN CEBPB DPF2 RAD21 EP300 RFX5 JUND SCRT2 STAT3 HS3ST1 LOC105374483 GC04M011643
GH04G010611 1 Ensembl ENCODE 10.5 +817.9 817871 1.4 JUN ZEB1 ZNF366 ZBTB48 ZNF600 FOS PRDM10 ZNF639 ZNF280D GFI1B ENSG00000249334 CLNK HS3ST1 LOC105374480 LOC105374481
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HS3ST1 on UCSC Golden Path with GeneCards custom track

Promoters for HS3ST1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000165931 865 1801 CTCF MXI1 SUZ12 NFXL1 RBBP5 EBF1 RAD21 CTBP1 ZNF143 SMC3

Genomic Location for HS3ST1 Gene

Chromosome:
4
Start:
11,393,150 bp from pter
End:
11,429,765 bp from pter
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 isoforms=48, isoforms=192, isoforms=242, and isoforms=249
  • Modification sites at PhosphoSitePlus

Other Protein References for HS3ST1 Gene

Domains & Families for HS3ST1 Gene

Gene Families for HS3ST1 Gene

Protein Domains for HS3ST1 Gene

Suggested Antigen Peptide Sequences for HS3ST1 Gene

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 CatalyticActivity:
3-phosphoadenylyl sulfate + [heparan sulfate]-glucosamine = adenosine 3,5-bisphosphate + [heparan sulfate]-glucosamine 3-sulfate.
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.

Enzyme Numbers (IUBMB) for HS3ST1 Gene

Gene Ontology (GO) - Molecular Function for HS3ST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008146 sulfotransferase activity TAS 9988767
GO:0008467 [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity TAS --
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

Clone Products

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
lysosome 1

Gene Ontology (GO) - Cellular Components for HS3ST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005796 Golgi lumen TAS --
GO:0016021 integral component of membrane TAS 9988767
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

(2) Drugs for HS3ST1 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine-3'-5'-Diphosphate Experimental Pharma Target 0

(5) Additional Compounds for HS3ST1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Adenosine 3',5'-diphosphate
  • 3'-Phosphoryl-AMP
  • 3,5-ADP
  • 3,5-Diphosphoadenosine
  • 3-Phosphoadenosine 5-phosphate
  • 5-(Dihydrogen phosphate) 3-Adenylate
1053-73-2
Phosphoadenosine phosphosulfate
  • 3'-Phospho-5'-adenylyl sulfate
  • 3'-Phospho-5'-adenylyl sulphate
  • 3'-Phosphoadenosine 5'-phosphosulfate
  • 3'-Phosphoadenosine 5'-phosphosulphate
  • 3'-Phosphoadenosine-5'-phosphosulfate
482-67-7
genes like me logo Genes that share compounds with HS3ST1: view

Transcripts for HS3ST1 Gene

mRNA/cDNA for HS3ST1 Gene

Unigene Clusters for HS3ST1 Gene

Heparan sulfate (glucosamine) 3-O-sulfotransferase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
HS3ST1

Expression for HS3ST1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for HS3ST1 Gene



Protein tissue co-expression partners for HS3ST1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HS3ST1 Gene:

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(2.9)
  • Lung(2.8)
  • Skin(2.5)
  • Intestine(2.4)
genes like me logo Genes that share expression patterns with HS3ST1: view

Primer Products

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 34 35
  • 99.46 (n)
cow
(Bos Taurus)
Mammalia HS3ST1 34 35
  • 91.1 (n)
dog
(Canis familiaris)
Mammalia HS3ST1 34
  • 90.54 (n)
3OST1 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hs3st1 34 16 35
  • 84.69 (n)
rat
(Rattus norvegicus)
Mammalia Hs3st1 34
  • 84.35 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HS3ST1 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves HS3ST1 34 35
  • 71.1 (n)
lizard
(Anolis carolinensis)
Reptilia HS3ST1 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hs3st1 34
  • 66.67 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398971 34
zebrafish
(Danio rerio)
Actinopterygii hs3st1 34 35
  • 65.27 (n)
fruit fly
(Drosophila melanogaster)
Insecta Hs3st-A 35
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hst-3 36
  • 44 (a)
hst-3.1 35
  • 38 (a)
OneToMany
Species where no ortholog for HS3ST1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for HS3ST1 Gene

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

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

Variants for HS3ST1 Gene

Sequence variations from dbSNP and Humsavar for HS3ST1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs10000547 -- 11,425,795(+) AGAAA(C/T)TTAGG intron-variant
rs10000548 -- 11,425,796(+) GAAAT(G/T)TAGGG intron-variant
rs10000714 -- 11,425,976(+) AGCAC(C/T)AGCTG intron-variant
rs1000094062 -- 11,421,347(+) ACACC(C/G)TCCCC intron-variant
rs1000107492 -- 11,424,273(+) CACTG(A/G)GATCT intron-variant

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)

Relevant External Links 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

(2) MalaCards diseases for HS3ST1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spherocytosis, type 3
  • hereditary spherocytosis type 3
hereditary spherocytosis
  • spherocytosis, type 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for HS3ST1

Genetic Association Database (GAD)
HS3ST1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 N.W. … Rosenberg R.D. (J. Biol. Chem. 1999) 2 3 4 22 64
  2. Expression of heparan sulfate D-glucosaminyl 3-O-sulfotransferase isoforms reveals novel substrate specificities. (PMID: 9988768) Liu J. … Rosenberg R.D. (J. Biol. Chem. 1999) 3 4 22 64
  3. Molecular cloning and expression of mouse and human cDNAs encoding heparan sulfate D-glucosaminyl 3-O-sulfotransferase. (PMID: 9346953) Shworak N.W. … Rosenberg R.D. (J. Biol. Chem. 1997) 3 4 22 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for HS3ST1 Gene

Sources for HS3ST1 Gene

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