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B3GAT1 Gene

protein-coding   GIFtS: 64
GCID: GC11M134248

Beta-1,3-Glucuronyltransferase 1 (Glucuronosyltransferase...

(Previous name: CD57 antigen)
(Previous symbols: CD57, LEU7)
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(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
Beta-1,3-Glucuronyltransferase 1 (Glucuronosyltransferase P)1 2     GLCUATP2
CD571 2 5     NK-12
GLCATP2 3 5     NK12
LEU71 2     Galactosylgalactosylxylosylprotein 3-Beta-Glucuronosyltransferase 12
Glucuronosyltransferase P2 3     glcUAT-P2
UDP-GlcUA:Glycoprotein Beta-1,3-Glucuronyltransferase2 3     LEU7 Antigen2
EC 2.4.1.1353 8     GlcAT-P3
HNK12 5     GlcUAT-P3
CD57 Antigen1     Beta-1,3-Glucuronyltransferase 13

External Ids:    HGNC: 9211   Entrez Gene: 270872   Ensembl: ENSG000001099567   OMIM: 1512905   UniProtKB: Q9P2W73   

Export aliases for B3GAT1 gene to outside databases

Previous GC identifers: GC11M136745 GC11M135763 GC11M134281 GC11M133786 GC11M133753 GC11M130203


(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 B3GAT1 Gene:
The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit
strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene
product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate
epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants
have been characterized. (provided by RefSeq, Jul 2008)

GeneCards Summary for B3GAT1 Gene:
B3GAT1 (beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)) is a protein-coding gene. Diseases associated with B3GAT1 include lymphocytic gastritis, and basaloid squamous cell carcinoma. GO annotations related to this gene include galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity and UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity. An important paralog of this gene is B3GAT3.

UniProtKB/Swiss-Prot: B3GA1_HUMAN, Q9P2W7
Function: Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on glycoproteins. Can also play a role in
glycosaminoglycan biosynthesis. Substrates include asialo-orosomucoid (ASOR), asialo-fetuin, and asialo-neural
cell adhesion molecule. Requires sphingomyelin for activity: stearoyl-sphingomyelin was the most effective,
followed by palmitoyl-sphingomyelin and lignoceroyl-sphingomyelin. Activity was demonstrated only for
sphingomyelin with a saturated fatty acid and not for that with an unsaturated fatty acid, regardless of the
length of the acyl group (By similarity)

Gene Wiki entry for B3GAT1 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_000011.10  NT_033899.9  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the B3GAT1 gene promoter:
         MyoD   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidB3GAT1 promoter sequence
   Search Chromatin IP Primers for B3GAT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat B3GAT1


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

Entrez Gene cytogenetic band: 11q25   Ensembl cytogenetic band:  11q25   HGNC cytogenetic band: 11q25

B3GAT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B3GAT1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M134248:  view genomic region     (about GC identifiers)

Start:
134,248,398 bp from pter      End:
134,281,812 bp from pter
Size:
33,415 bases      Orientation:
minus 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: B3GA1_HUMAN, Q9P2W7 (See protein sequence)
Recommended Name: Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1  
Size: 334 amino acids; 38256 Da
Cofactor: Manganese
Subunit: Homodimer (Potential)
3 PDB 3D structures from and Proteopedia for B3GAT1:
1V82 (3D)        1V83 (3D)        1V84 (3D)    
Secondary accessions: Q96FS7

Explore the universe of human proteins at neXtProt for B3GAT1: NX_Q9P2W7

Explore proteomics data for B3GAT1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for B3GAT1 (Q9P2W7) (see all 7)
     HVPNLHW  ELFEEMR  VWHTRTEK  RPFAIDMAGFAV 


    See B3GAT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_061114.2  NP_473366.1  

    ENSEMBL proteins: 
     ENSP00000307875   ENSP00000433847   ENSP00000445983   ENSP00000376359  
    Reactome Protein details: Q9P2W7

    B3GAT1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for B3GAT1
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    Novus Biologicals B3GAT1 Proteins
    Novus Biologicals B3GAT1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    B3GAT1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of B3GAT1
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    Novus Biologicals B3GAT1 Antibodies
    Abcam antibodies for B3GAT1
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    ThermoFisher Antibody for B3GAT1
    LSBio Antibodies in human, mouse, rat for B3GAT1

    B3GAT1 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules
    B3GAT: Beta-1,3-glucuronyltransferases

    1 InterPro protein domain:
     IPR005027 Glyco_trans_43

    Graphical View of Domain Structure for InterPro Entry Q9P2W7

    ProtoNet protein and cluster: Q9P2W7

    1 Blocks protein domain: IPB005027 Glycosyl transferase

    UniProtKB/Swiss-Prot: B3GA1_HUMAN, Q9P2W7
    Similarity: Belongs to the glycosyltransferase 43 family


    B3GAT1 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: B3GA1_HUMAN, Q9P2W7
    Function: Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on glycoproteins. Can also play a role in
    glycosaminoglycan biosynthesis. Substrates include asialo-orosomucoid (ASOR), asialo-fetuin, and asialo-neural
    cell adhesion molecule. Requires sphingomyelin for activity: stearoyl-sphingomyelin was the most effective,
    followed by palmitoyl-sphingomyelin and lignoceroyl-sphingomyelin. Activity was demonstrated only for
    sphingomyelin with a saturated fatty acid and not for that with an unsaturated fatty acid, regardless of the
    length of the acyl group (By similarity)
    Catalytic activity: UDP-glucuronate + 3-beta-D-galactosyl-4-beta-D-galactosyl-O-beta-D-xylosylprotein = UDP +
    3-beta-D-glucuronosyl-3-beta-D-galactosyl-4-beta-D-galactosyl-O-beta-D-xylosylprotein

         Enzyme Number (IUBMB): EC 2.4.1.1351 2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008499UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity IEA--
    GO:0015018galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity IEA--
    GO:0046872metal ion binding IEA--
         
    B3GAT1 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for B3gat1):
     behavior/neurological  nervous system 

    B3GAT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out B3gat1tm1Tkaw for B3GAT1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for B3GAT1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for B3GAT1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for B3GAT1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for B3GAT1

    miRNA
    Products:
        
    miRTarBase miRNAs that target B3GAT1:
    hsa-mir-132-3p (MIRT021807)

    Block miRNA regulation of human, mouse, rat B3GAT1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate B3GAT1 (see all 34):
    hsa-miR-3607-3p hsa-let-7d hsa-miR-3138 hsa-miR-30d hsa-miR-218 hsa-miR-570 hsa-let-7g hsa-miR-30a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat B3GAT1

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for B3GAT1 (see all 15)
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    GenScript: all cDNA clones in your preferred vector (see all 2): B3GAT1 (NM_018644)
    Sino Biological Human cDNA Clone for B3GAT1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for B3GAT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat B3GAT1

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for B3GAT1


    (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
    B3GA1_HUMAN, Q9P2W7: Golgi apparatus membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    cytoskeleton3
    extracellular2
    nucleus2
    plasma membrane2
    endoplasmic reticulum1
    lysosome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    B3GAT1 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 B3GAT1 About   (see all 8)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS II - Hunter syndrome0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    Glycosaminoglycan metabolism0.45
    MPS IV - Morquio syndrome A0.45
    MPS IV - Morquio syndrome B0.45
    Mucopolysaccharidoses0.45
    MPS VII - Sly syndrome0.45
    2Chondroitin sulfate/dermatan sulfate metabolism
    Chondroitin sulfate/dermatan sulfate metabolism0.51
    A tetrasaccharide linker sequence is required for GAG synthesis0.51
    3dermatan sulfate biosynthesis
    dermatan sulfate biosynthesis
    glycoaminoglycan-protein linkage region biosynthesis0.00
    4heparan sulfate biosynthesis
    heparan sulfate biosynthesis0.79
    5Heparan sulfate/heparin (HS-GAG) metabolism
    Heparan sulfate/heparin (HS-GAG) metabolism0.57

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for B3GAT1
        glycoaminoglycan-protein linkage region biosynthesis
    heparan sulfate biosynthesis
    chondroitin sulfate biosynthesis
    dermatan sulfate biosynthesis


    1 Reactome Pathway for B3GAT1
        A tetrasaccharide linker sequence is required for GAG synthesis


    1 Kegg Pathway  (Kegg details for B3GAT1):
        Other types of O-glycan biosynthesis

    UniProtKB/Swiss-Prot: B3GA1_HUMAN, Q9P2W7
    Pathway: Protein modification; protein glycosylation


    B3GAT1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for B3GAT1
    Interactions:

        Search GeneGlobe Interaction Network for B3GAT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for B3GAT1 (ENSP000003078754) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    B3GALT6ENSP000003684964STRING: ENSP00000368496
    CSGALNACT2ENSP000003635904STRING: ENSP00000363590
    EXTL2ENSP000003591314STRING: ENSP00000359131
    EXTL3ENSP000002205624STRING: ENSP00000220562
    CSGALNACT1ENSP000003108914STRING: ENSP00000310891
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006486protein glycosylation IEA--
    GO:0030203glycosaminoglycan metabolic process TAS--
    GO:0030204chondroitin sulfate metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    B3GAT1 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
      Browse compounds at ApexBio 

    Browse Tocris compounds for B3GAT1 (B3GA1)

    Selected HMDB Compounds for B3GAT1 (see all 43)    About this table
    CompoundSynonyms CAS #PubMed Ids
    LysoSM(d18:0)sphinganine-1-phosphocholine (see all 2)----
    LysoSM(d18:1)C18-Sphingosine phosphocholine (see all 7)1670-26-4--
    Manganesemanganese 7439-96-5--
    SM(d16:1/24:1(15Z))Sphingomyelin (d16:1/24:1(15Z)) (see all 2)----
    SM(d17:1/24:0)Sphingomyelin (d17:1/24:0) (see all 2)----
    SM(d17:1/24:1(15Z))Sphingomyelin (d17:1/24:1(15Z)) (see all 2)----
    SM(d18:0/12:0)Sphingomyelin (see all 4)----
    SM(d18:0/14:0)Sphingomyelin (see all 4)----
    SM(d18:0/14:1(9Z)(OH))C14:1-OH Sphingomyelin (see all 2)----
    SM(d18:0/16:0)Sphingomyelin (see all 4)----

    2 DrugBank Compounds for B3GAT1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    D-tartaric acid(-)-Tartaric acid (see all 7)147-71-7target--17139284 17016423
    Uridine-5'-Diphosphate-- 58-98-0target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for B3GAT1 gene (see all 23)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    senktide 71.1 2 8229792 (1), 9695142 (1)
    septide 70.4 1 16729222 (1)
    paragloboside 70.3 2 15470230 (2)
    fk 888 67.7 2 9299653 (1), 9032485 (1)
    eledoisin 63.8 1 16127708 (1)
    n-acetyllactosamine 63.1 6 14993226 (1), 15470230 (1), 17567734 (1), 19729452 (1)
    thiorphan 55.8 2 17028311 (1)
    rubin 53 1 8636243 (1)
    glycosaminoglycan 37.9 4 10075678 (2), 17567734 (1), 8636243 (1)
    ltd4 33.9 2 9032485 (1), 9695142 (1)



    B3GAT1 for compounds           About GeneDecksing



    (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 B3GAT1 gene (2 alternative transcripts): 
    NM_018644.3  NM_054025.2  

    Unigene Cluster for B3GAT1:

    Beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)
    Hs.381050  [show with all ESTs]
    Unigene Representative Sequence: BC010466
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000531778 ENST00000312527(uc001qhr.3) ENST00000524765 ENST00000531510
    ENST00000537389(uc010scv.1) ENST00000392580(uc001qhq.3)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate B3GAT1 (see all 34):
    hsa-miR-3607-3p hsa-let-7d hsa-miR-3138 hsa-miR-30d hsa-miR-218 hsa-miR-570 hsa-let-7g hsa-miR-30a
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat B3GAT1
    Primer
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    OriGene qPCR primer pairs and template standards for B3GAT1
    OriGene qSTAR qPCR primer pairs in human, mouse for B3GAT1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat B3GAT1
      QuantiTect SYBR Green Assays in human, mouse, rat B3GAT1
      QuantiFast Probe-based Assays in human, mouse, rat B3GAT1

    Additional mRNA sequence: 

    AB029396.1 AF131769.1 AK299637.1 AL834455.1 BC010466.1 CR457098.1 

    7 DOTS entries:

    DT.100747162  DT.447864  DT.100747161  DT.95373074  DT.99935744  DT.120721174  DT.91998612 

    Selected AceView cDNA sequences (see all 79):

    BM702567 BE550759 BE550952 T31136 F12927 NM_054025 BE550988 AL834455 
    BM722973 BC010466 BE549719 AI457785 BE218899 CR457098 BF740222 CD635532 
    BE671236 AA339469 BM677435 F10527 AW005546 Z40857 BF110129 BG910394 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for B3GAT1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b
    SP1:                                                                              
    SP2:              -                                                               
    SP3:              -           -                                                   
    SP4:                                                                              


    ECgene alternative splicing isoforms for B3GAT1

    (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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    B3GAT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGACCACTG
    B3GAT1 Expression
    About this image


    B3GAT1 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
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 10 entries
             Mesencephalic Neural Crest Cells Prechordal Mesenchyme
             HNK1+p75+ neural crest cells
     
     Head Mesenchyme (Muscoskeletal System)    fully expand to see all 6 entries
             Mesencephalic Neural Crest Cells Prechordal Mesenchyme
     
     Peripheral Nervous System (Nervous System)
             Schwann-like cells
     
     Schwann Cells (Nervous System)
             Schwann-like cells
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebellum
    B3GAT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    B3GAT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.381050

    UniProtKB/Swiss-Prot: B3GA1_HUMAN, Q9P2W7
    Tissue specificity: Mainly expressed in the brain

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    (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 B3GAT1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia B3gat11 , 5 beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase more1, 5 88.62(n)1
    98.5(a)1
      9 (11.49 cM)5
    768981  NM_029792.11  NP_084068.11 
     267337285 
    chicken
    (Gallus gallus)
    Aves B3GAT11 beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase more 79.64(n)
    90.42(a)
      373949  NM_001277839.1  NP_001264768.1 
    lizard
    (Anolis carolinensis)
    Reptilia B3GAT16
    beta-1,3-glucuronyltransferase 1 (glucuronosyltran...
    83(a)
    1 ↔ 1
    GL343396.1(717754-775387)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.87472 Xenopus laevis transcribed sequence with weak similarity more 77.64(n)    CD360824.1 
    zebrafish
    (Danio rerio)
    Actinopterygii b3gat1a1 beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase more 73.15(n)
    86.23(a)
      548607  NM_001015066.2  NP_001015066.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta BcDNA:GH050573   -- 48(a)
    (best of 3)
      4B1   --
    worm
    (Caenorhabditis elegans)
    Secernentea sqv-83   -- 46(a)
    (best of 5)
      II(9647848-9649134)   --


    ENSEMBL Gene Tree for B3GAT1 (if available)
    TreeFam Gene Tree for B3GAT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for B3GAT1 gene
    B3GAT32  B3GAT22  
    3 SIMAP similar genes for B3GAT1 using alignment to 2 protein entries:     B3GA1_HUMAN (see all proteins):
    DKFZp547E046    B3GAT3    B3GAT2

    B3GAT1 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 B3GAT1 (see all 868)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1845320481,2
    --130238155(+) TGTCTC/TGTTCC 2 -- us2k10--------
    rs1409913011,2
    --130238232(+) GGCGAC/TGAGGA 2 -- us2k10--------
    rs1379018141,2
    --134247963(+) CCCCCA/GCCCCG 2 -- ds50010--------
    rs1923349371,2
    --134247967(+) CGCCCC/TGTCAG 2 -- ds50010--------
    rs1844931561,2
    C--134248018(+) AGCAAC/TGCTTG 2 -- ds50010--------
    rs108948051,2
    C,F,A,H--134248055(+) CTTGGA/GCCCGG 2 -- ds500125Minor allele frequency- G:0.46NS EA NA WA CSA 2359
    rs1888058221,2
    C--134248069(+) GCTGCA/GTGTCA 2 -- ds50010--------
    rs1443399541,2
    C--134248076(+) TCAGG-/GTGTGTT 2 -- ds50010--------
    rs112237761,2
    C--134248081(+) GGTGTT/CGCTGC 2 -- ds50013Minor allele frequency- C:0.27CSA WA EA 239
    rs1434586081,2
    --134248089(+) TGCTTC/TGCTCA 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for B3GAT1 (134248398 - 134281812 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for B3GAT1 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv4e196CNV Duplication17116639
    nsv561CNV Insertion18451855
    nsv898497CNV Loss21882294
    dgv1328n71CNV Loss21882294
    nsv898496CNV Loss21882294
    nsv898495CNV Loss21882294
    nsv898491CNV Gain21882294
    nsv521581CNV Gain19592680
    nsv898475CNV Gain21882294
    esv22213CNV Gain19812545

    Human Gene Mutation Database (HGMD): B3GAT1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing B3GAT1
    DNA2.0 Custom Variant and Variant Library Synthesis for B3GAT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 151290    OMIM disorders: --

    Selected diseases for B3GAT1 (see all 66):    
    About MalaCards
    lymphocytic gastritis    basaloid squamous cell carcinoma    cutaneous fibrous histiocytoma    metanephric adenoma
    natural killer cell leukemia    ossifying fibromyxoid tumor    felty's syndrome    neurilemmoma
    oral leukoplakia    merkel cell carcinoma    fibrous histiocytoma    human immunodeficiency virus infectious disease
    perineurioma    germ cell cancer    neuroendocrine carcinoma    histiocytoma
    hypersensitivity reaction type ii disease    leukoplakia    small cell carcinoma    malignant peripheral nerve sheath tumor

    12 diseases from the University of Copenhagen DISEASES database for B3GAT1:
    Metanephric adenoma     Lymphoma     Felty's syndrome     Neutropenia
    Leukemia     Carcinoma     Human immunodeficiency virus infectious disease     Neurilemmoma
    Ossifying fibromyxoid tumor     Malignant peripheral nerve sheath tumor     Germ cell cancer     Sarcoma

    B3GAT1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    7 Novoseek inferred disease relationships for B3GAT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    astrocytoma 34.5 2 7512575 (1), 9372245 (1)
    carcinoma 9.75 1 11740050 (1)
    tumors 7.59 9 7690246 (1), 8581156 (1), 8823994 (1), 14629756 (1) (see all 7)
    rheumatoid arthritis 3.84 2 7683880 (1), 7517872 (1)
    dysplasia 0 1 11299765 (1)
    aids 0 2 7683880 (1), 7517872 (1)
    adenoma 0 12 9266438 (4), 14586070 (2)

    Genetic Association Database (GAD): B3GAT1
    Human Genome Epidemiology (HuGE) Navigator: B3GAT1 (2 documents)

    Export disorders for B3GAT1 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 B3GAT1 gene, integrated from 10 sources (see all 171):
    (articles sorted by number of sources associating them with B3GAT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural basis for acceptor substrate recognition of a human glucuronyltransferase, GlcAT-P, an enzyme critical in the biosynthesis of the carbohydrate epitope HNK-1. (PubMed id 14993226)1, 2, 9 Kakuda S.... Kato R. (J. Biol. Chem. 2004)
    2. Cloning and chromosomal mapping of human glucuronyltransferase involved in biosynthesis of the HNK-1 carbohydrate epitope. (PubMed id 10783264)1, 2, 9 Mitsumoto Y.... Kawasaki T. (Genomics 2000)
    3. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (J. Hum. Genet. 2009)
    4. Molecular basis for acceptor substrate specificity of the human beta1,3-glucuronosyltransferases GlcAT-I and GlcAT-P involved in glycosaminoglycan and HNK-1 carbohydrate epitope biosynthesis, respectively. (PubMed id 17567734)1, 9 Fondeur-Gelinotte M....Fournel-Gigleux S. (Glycobiology 2007)
    5. Expression of killer cell lectin-like receptor G1 on antigen-specific human CD8+ T lymphocytes during active, latent, and resolved infection and its relation with CD57. (PubMed id 15879103)1, 9 Ibegbu C.C.... Kourtis A.P. (J. Immunol. 2005)
    6. CD57 expression and cytokine production by T cells in lesional and unaffected skin from patients with psoriasis. (PubMed id 23468834)1 Batista M.D....Nixon D.F. (PLoS ONE 2013)
    7. Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production. (PubMed id 23287865)1 Chiang S.C....Bryceson Y.T. (Blood 2013)
    8. Human cytomegalovirus-induced NKG2C(hi) CD57(hi) natural killer cells are effectors dependent on humoral antiviral immunity. (PubMed id 23637420)1 Wu Z....Mertens T. (J. Virol. 2013)
    9. CD57(high) neuroblastoma cells have aggressive attributes ex situ and an undifferentiated phenotype in patients. (PubMed id 22900004)1 Schlitter A.M....Beltinger C. (PLoS ONE 2012)
    10. Lung CD57+ cell density is increased in very severe COPD. (PubMed id 22127595)1 Olloquequi J....Montes J.F. (Histol. Histopathol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 27087 HGNC: 921 AceView: B3GAT1 Ensembl:ENSG00000109956 euGenes: HUgn27087
    ECgene: B3GAT1 Kegg: 27087 H-InvDB: B3GAT1

    (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 B3GAT1 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B3GAT1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for B3GAT1 gene:
    Search GeneIP for patents involving B3GAT1

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



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