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HS3ST3B1 Gene

protein-coding   GIFtS: 56
GCID: GC17P014145

Heparan Sulfate (Glucosamine) 3-O-Sulfotransferase 3B1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Heparan Sulfate (Glucosamine) 3-O-Sulfotransferase 3B11 2     30ST3B12 5
Heparan Sulfate 3-O-Sulfotransferase 3B12 3     Heparan Sulfate Glucosamine 3-O-Sulfotransferase 3B12
Heparan Sulfate D-Glucosaminyl 3-O-Sulfotransferase 3B12 3     EC 2.8.2.303
3-OST-3B2 3     HS3ST3B3
3OST3B12 3     EC 2.8.28
h3-OST-3B2 3     

External Ids:    HGNC: 51981   Entrez Gene: 99532   Ensembl: ENSG000001254307   OMIM: 6040585   UniProtKB: Q9Y6623   

Export aliases for HS3ST3B1 gene to outside databases

Previous GC identifers: GC17P014570 GC17P015319 GC17P014147 GC17P014404 GC17P014098


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HS3ST3B1 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 is a type II integral membrane protein and possesses heparan
sulfate glucosaminyl 3-O-sulfotransferase activity. The sulfotransferase domain of this enzyme is highly similar
to the same domain of heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3A1, and these two enzymes sulfate an
identical disaccharide. This gene is widely expressed, with the most abundant expression in liver and placenta.
(provided by RefSeq, Jul 2008)

GeneCards Summary for HS3ST3B1 Gene:
HS3ST3B1 (heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1) is a protein-coding gene. Diseases associated with HS3ST3B1 include papillon-lefevre disease, and morquio syndrome b. GO annotations related to this gene include [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity and [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity. An important paralog of this gene is HS3ST2.

UniProtKB/Swiss-Prot: HS3SB_HUMAN, Q9Y662
Function: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo
group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate. Catalyzes
the O-sulfation of glucosamine in IdoUA2S-GlcNS and also in IdoUA2S-GlcNH2. The substrate-specific O-sulfation
generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes simplex virus-1 (HSV-1)
and permits its entry. Unlike 3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant
heparan sulfate

Gene Wiki entry for HS3ST3B1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HS3ST3B1 gene promoter:
         USF1   USF2   USF-1:USF-2   Max   CREB   POU2F1   POU2F1a   Zic1   USF-1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHS3ST3B1 promoter sequence
   Search Chromatin IP Primers for HS3ST3B1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HS3ST3B1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p12   Ensembl cytogenetic band:  17p12   HGNC cytogenetic band: 17p12

HS3ST3B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HS3ST3B1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P014145:  view genomic region     (about GC identifiers)

Start:
14,204,400 bp from pter      End:
14,252,721 bp from pter
Size:
48,322 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HS3SB_HUMAN, Q9Y662 (See protein sequence)
Recommended Name: Heparan sulfate glucosamine 3-O-sulfotransferase 3B1  
Size: 390 amino acids; 43324 Da
Secondary accessions: B3KN58 D3DTS6

Explore the universe of human proteins at neXtProt for HS3ST3B1: NX_Q9Y662

Explore proteomics data for HS3ST3B1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Thr79, Thr84, Asn258, Asn329
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for HS3ST3B1 (Q9Y662) (see all 6)
     EPHFFDR  LREFYRP  TKGFPCLKK  FYFNKTKGF 


    See HS3ST3B1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006032.1  
    ENSEMBL proteins: 
     ENSP00000436078   ENSP00000354213  
    Reactome Protein details: Q9Y662

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SULTM: Sulfotransferases, membrane-bound

    2 InterPro protein domains:
     IPR000863 Sulfotransferase_dom
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q9Y662

    ProtoNet protein and cluster: Q9Y662

    UniProtKB/Swiss-Prot: HS3SB_HUMAN, Q9Y662
    Similarity: Belongs to the sulfotransferase 1 family


    HS3ST3B1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HS3SB_HUMAN, Q9Y662
    Function: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo
    group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate. Catalyzes
    the O-sulfation of glucosamine in IdoUA2S-GlcNS and also in IdoUA2S-GlcNH2. The substrate-specific O-sulfation
    generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes simplex virus-1 (HSV-1)
    and permits its entry. Unlike 3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant
    heparan sulfate
    Catalytic activity: 3'-phosphoadenylyl sulfate + [heparan sulfate]-glucosamine = adenosine 3',5'-bisphosphate +
    [heparan sulfate]-glucosamine 3-sulfate

         Genatlas biochemistry entry for HS3ST3B1:
    heparan sulfate D-glucosamine 3-O-sulfotransferase 3B1,widely expressed with multiple transcripts active according
    to the saccharide structures around the GLN residue,putative regulator of heparan sulfate proteoglycan properties

         Enzyme Numbers (IUBMB): EC 2.8.22 EC 2.8.2.301

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008146sulfotransferase activity ----
    GO:0008467[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity TAS9988767
    GO:0033872[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity IEA--
         
    HS3ST3B1 for ontologies           About GeneDecksing


    Animal Models:
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    Selected qRT-PCR Assays for microRNAs that regulate HS3ST3B1 (see all 32):
    hsa-miR-29a hsa-miR-218 hsa-miR-183* hsa-miR-3163 hsa-miR-3606 hsa-miR-99b hsa-miR-1 hsa-miR-302f
    SwitchGear 3'UTR luciferase reporter plasmidHS3ST3B1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HS3SB_HUMAN, Q9Y662: Golgi apparatus membrane; Single-pass type II membrane protein (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    plasma membrane4
    cytosol1
    extracellular1
    lysosome1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005887integral component of plasma membrane TAS9988767

    HS3ST3B1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for HS3ST3B1 About   (see all 6)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1heparan sulfate biosynthesis
    heparan sulfate biosynthesis0.79
    heparan sulfate biosynthesis (late stages)0.00
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin0.79
    2MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS IIIB - Sanfilippo syndrome B0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    MPS II - Hunter syndrome0.45
    MPS IV - Morquio syndrome A0.45
    Glycosaminoglycan metabolism0.45
    Mucopolysaccharidoses0.45
    MPS IV - Morquio syndrome B0.45
    3Heparan sulfate/heparin (HS-GAG) metabolism
    Heparan sulfate/heparin (HS-GAG) metabolism0.57
    HS-GAG biosynthesis0.57
    4Biological oxidations
    metapathway biotransformation0.42
    5Metabolism
    Metabolism0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for HS3ST3B1
        heparan sulfate biosynthesis (late stages)
    metapathway biotransformation
    heparan sulfate biosynthesis

    1 Reactome Pathway for HS3ST3B1
        HS-GAG biosynthesis


    1 Kegg Pathway  (Kegg details for HS3ST3B1):
        Glycosaminoglycan biosynthesis - heparan sulfate / heparin


    HS3ST3B1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HS3ST3B1
    Interactions:

        Search GeneGlobe Interaction Network for HS3ST3B1

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006024glycosaminoglycan biosynthetic process TAS--
    GO:0015012heparan sulfate proteoglycan biosynthetic process TAS9988768
    GO:0015015heparan sulfate proteoglycan biosynthetic process, enzymatic modification TAS9988767
    GO:0030203glycosaminoglycan metabolic process TAS--

    HS3ST3B1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
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    Browse Tocris compounds for HS3ST3B1 (HS3SB)

    3 HMDB Compounds for HS3ST3B1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine 3',5'-diphosphate3,5-Diphosphoadenosine (see all 10)1053-73-2--
    Iduronic acidL-Iduronate (see all 3)3402-98-0--
    Phosphoadenosine phosphosulfate3'-Phospho-5'-adenylyl sulfate (see all 9)482-67-7--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HS3ST3B1 gene: 
    NM_006041.1  

    Unigene Cluster for HS3ST3B1:

    Heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1
    Hs.48384  [show with all ESTs]
    Unigene Representative Sequence: BC063301
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000466596 ENST00000360954(uc002goh.1)
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    Additional mRNA sequence: 

    AF105377.1 AK023723.1 BC063301.1 BC069664.1 BC069725.1 

    2 DOTS entries:

    DT.95233849  DT.97833448 

    Selected AceView cDNA sequences (see all 76):

    CD723853 BC063301 BX117031 AF105377 NM_006041 BQ027236 AA343703 AA700133 
    BQ004361 AA777311 AV719150 BM968044 BC069664 BG149820 H61843 AI377884 
    AA701233 BG619865 AU139939 AA367804 AK023723 BM921406 BG498462 H59780 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HS3ST3B1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTCTTTGC
    HS3ST3B1 Expression
    About this image


    HS3ST3B1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Ureteric Bud Tip Cells Ureteric Bud
             Metanephros
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Chondrocytes Zeugopod Epiphyseal End
             Membranous Facial Bones
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Cartilage (Muscoskeletal System)
             Chondrocytes Zeugopod Epiphyseal End
    HS3ST3B1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HS3ST3B1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.48384

    UniProtKB/Swiss-Prot: HS3SB_HUMAN, Q9Y662
    Tissue specificity: Ubiquitous. Most abundant in liver and placenta, followed by heart and kidney

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HS3ST3B1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for HS3ST3B1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hs3st3b11 , 5 heparan sulfate (glucosamine) 3-O-sulfotransferase more1, 5 87.69(n)1
    88.46(a)1
      11 (39.47 cM)5
    547101  NM_018805.21  NP_061275.21 
     638857925 
    chicken
    (Gallus gallus)
    Aves HS3ST3A11 heparan sulfate (glucosamine) 3-O-sulfotransferase more 88.93(n)
    91.02(a)
      769490  XM_001232777.3  XP_001232778.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    73(a)
    1 → many
    2(106895052-106935514)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.144582 Xenopus laevis transcribed sequence with moderate similarity more 77.44(n)    BJ087244.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hs3st3b1b6
    si:ch211-216b21.26
    (see all 3)
    si:ch211-216b21.2
    (see all 3)
    66(a)
    62(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    12(38509796-38544145) ENSDARG00000086645
    12(38208388-38278150) ENSDARG00000060253
    fruit fly
    (Drosophila melanogaster)
    Insecta CG78903
    Hs3st-B1
    heparin-glucosamine
    3-O-sulfotransferase3
    Heparan sulfate 3-O sulfotransferase-B1
    66(a)3
    60.98(n)1
    55.78(a)1
      329181  NM_001272773.11  NP_001259702.11 


    ENSEMBL Gene Tree for HS3ST3B1 (if available)
    TreeFam Gene Tree for HS3ST3B1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HS3ST3B1 gene
    HS3ST22  NDST22  ENSG000002729162  HS3ST12  HS3ST42  HS3ST62  HS3ST3A12  HS3ST52  
    NDST12  NDST42  NDST32  
    6 SIMAP similar genes for HS3ST3B1 using alignment to 1 protein entry:     HS3SB_HUMAN:
    HS3ST3A1    HS3ST6    HS3ST4    HS3ST2    HS3ST5    HS3ST1

    HS3ST3B1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HS3ST3B1 (see all 1041)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1142478921,2
    C,F--14096289(+) CTCTGT/CCTAAT 1 -- us2k11Minor allele frequency- C:0.09WA 118
    rs1151534141,2
    C,F--14096310(+) CTCAAC/TAGTTT 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1821882501,2
    --14096331(+) CGTCTC/TGGGCT 1 -- us2k10--------
    rs1865090081,2
    --14096373(+) CAGCCC/GGGGCG 1 -- us2k10--------
    rs1156674981,2
    F--14096431(+) TTACCG/TCTGCT 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1913587531,2
    --14096518(+) CCAGGC/GTGGGG 1 -- us2k10--------
    rs37603091,2
    C,F--14096603(-) ACCACT/GCTGTC 1 -- us2k17Minor allele frequency- G:0.25NA WA CSA EA 365
    rs37603081,2
    C,F--14096729(-) CAGCGC/AGACCC 1 -- us2k16Minor allele frequency- A:0.22NA WA CSA EA 363
    rs1478328641,2
    --14096760(+) GTTCTA/GTCCCC 1 -- us2k10--------
    rs1835531351,2
    --14096776(+) CGCTTA/GCAGCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HS3ST3B1 (14204400 - 14252721 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for HS3ST3B1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2664356CNV Deletion23128226

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HS3ST3B1
    DNA2.0 Custom Variant and Variant Library Synthesis for HS3ST3B1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604058    OMIM disorders: --

    11 diseases for HS3ST3B1:    
    About MalaCards
    papillon-lefevre disease    morquio syndrome b    sly syndrome    mucopolysaccharidoses
    keratoconus    herpes simplex    pancreatic cancer    pancreatitis
    malaria    hepatitis    cerebritis

    1 disease from the University of Copenhagen DISEASES database for HS3ST3B1:
    Papillon-Lefevre disease

    HS3ST3B1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): HS3ST3B1
    Human Genome Epidemiology (HuGE) Navigator: HS3ST3B1 (2 documents)

    Export disorders for HS3ST3B1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HS3ST3B1 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with HS3ST3B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Multiple isoforms of heparan sulfate D-glucosaminyl 3-O- sulfotransferase. Isolation, characterization, and expression of human cDNAs and identification of distinct genomic loci. (PubMed id 9988767)1, 2, 3 Shworak N.W.... Rosenberg R.D. (J. Biol. Chem. 1999)
    2. Analysis of copy number variation in 8,842 Korean individuals reveals 39 genes associated with hepatic biomarkers AST and ALT. (PubMed id 20797317)1, 4 Kim H.Y....Kim H. (BMB Rep 2010)
    3. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PubMed id 18464913)1, 4 Melzer D....Ferrucci L. (PLoS Genet. 2008)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Expression of heparan sulfate D-glucosaminyl 3-O-sulfotransferase isoforms reveals novel substrate specificities. (PubMed id 9988768)1, 2 Liu J.... Rosenberg R.D. (J. Biol. Chem. 1999)
    7. A novel role for 3-O-sulfated heparan sulfate in herpes simplex virus 1 entry. (PubMed id 10520990)1, 2 Shukla D.... Spear P.G. (Cell 1999)
    8. Genome-wide siRNA screen reveals a new cellular partner of NK cell receptor KIR2DL4: heparan sulfate directly modulates KIR2DL4-mediated responses. (PubMed id 24127555)1 Brusilovsky M....Porgador A. (J. Immunol. 2013)
    9. Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. (PubMed id 23291589)1 Lu Y....Wong T.Y. (Nat. Genet. 2013)
    10. Genetic variations in genes involved in heparan sulphate biosynthesis are associated with Plasmodium falciparum parasitaemia: a familial study in Burkina Faso. (PubMed id 22475533)1 Atkinson A....Rihet P. (Malar. J. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9953 HGNC: 5198 AceView: HS3ST3B1 Ensembl:ENSG00000125430 euGenes: HUgn9953
    ECgene: HS3ST3B1 Kegg: 9953 H-InvDB: HS3ST3B1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HS3ST3B1 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=HS3ST3B1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HS3ST3B1 gene:
    Search GeneIP for patents involving HS3ST3B1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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