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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

B3GAT1 Gene

protein-coding   GIFtS: 60
GCID: GC11M134281

beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase...

(Previous name: CD57 antigen )
(Previous symbols: CD57, LEU7)
 Explore 67 diseases affiliated with
B3GAT1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for B3GAT1    

Aliases
for B3GAT1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Beta-1,3-Glucuronyltransferase 1 (Glucuronosyltransferase P)1 2     HNK-11
CD571 2 5     CD57 Antigen1
GLCATP2 3 5     GLCUATP2
LEU71 2     NK12
NK-11 2     Galactosylgalactosylxylosylprotein 3-Beta-Glucuronosyltransferase 12
GlcAT-P1 3     GlcUAT-P3
Glucuronosyltransferase P2 3     LEU7 Antigen2
UDP-GlcUA:Glycoprotein Beta-1,3-Glucuronyltransferase2 3     GlcUAT-P3
EC 2.4.1.1353 8     Beta-1,3-Glucuronyltransferase 13
HNK12 5     

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 GC11M133786 GC11M133753 GC11M130203


Summaries
for B3GAT1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for B3GAT1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_033899.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the B3GAT1 gene promoter:
         MyoD   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: B3GAT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for B3GAT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC11M134281:  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

Proteins
for B3GAT1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9P2W7

    • 4/7 DME Specific Peptides for B3GAT1 (Q9P2W7) (see all 7)
     HVPNLHW  ELFEEMR  VWHTRTEK  RPFAIDMAGFAV 

    B3GAT1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000307875   ENSP00000433847   ENSP00000445983   ENSP00000376359  
    Reactome Protein details: Q9P2W7
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate (see all 3): B3GAT1
    OriGene Custom Protein Services for B3GAT1 
    GenScript Custom Purified and Recombinant Proteins Services for B3GAT1
    Novus Biologicals B3GAT1 Proteins
    Novus Biologicals B3GAT1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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


    B3GAT1 for ontologies           About GeneDecksing



    B3GAT1 Antibody Products: 
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    Novus Biologicals B3GAT1 Antibodies
    Search for Antibodies for B3GAT1 at Abcam  
    Browse Antibodies at Uscn
    ThermoFisher Antibodies for B3GAT1

    Assay Products for B3GAT1: 
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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for B3GAT1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    B3GAT1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR005027 Glyco_trans_43

    Graphical View of Domain Structure for InterPro Entry Q9P2W7

    ProtoNet protein and cluster: Q9P2W7

    1 Blocks protein family: IPB005027 Glycosyl transferase

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


    Function
    for B3GAT1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)
    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

    miRNA
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    Browse MicroRNA Expression Plasmids
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    8/34 QIAGEN miScript miRNA 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
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for B3GAT1 (see all 7)
    OriGene shRNA RFP: B3GAT1
    OriGene siRNA: B3GAT1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat B3GAT1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for B3GAT1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for B3GAT1 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for B3GAT1 (see all 3)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): B3GAT1 (NM_018644)
    Browse Sino Biological Human cDNA Clones
    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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    Search LifeMap BioReagents cell lines for B3GAT1

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

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    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


    Animal Models:
         Mouse knock-out B3gat1tm1Tkaw for B3GAT1
         2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for B3gat1):
     behavior/neurological  nervous system 

    B3GAT1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for B3GAT1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1MPS IIIC - Sanfilippo syndrome C
    8/15 pathways (see all 15)
    		MPS VI - Maroteaux-Lamy syndrome1.00
    		MPS IIIA - Sanfilippo syndrome A1.00
    		MPS IIIC - Sanfilippo syndrome C1.00
    		MPS IIID - Sanfilippo syndrome D1.00
    		MPS I - Hurler syndrome1.00
    		MPS IX - Natowicz syndrome1.00
    		Mucopolysaccharidoses1.00
    		MPS II - Hunter syndrome1.00
    2dermatan sulfate biosynthesis
    		dermatan sulfate biosynthesis1.00
    		chondroitin sulfate biosynthesis0.64
    		Glycosaminoglycan biosynthesis - chondroitin sulfate0.73
    		glycoaminoglycan-protein linkage region biosynthesis0.38
    3A tetrasaccharide linker sequence is required for GAG synthesis
    		A tetrasaccharide linker sequence is required for GAG synthesis1.00
    		Chondroitin sulfate/dermatan sulfate metabolism0.54
    4Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    5heparan sulfate biosynthesis
    		heparan sulfate biosynthesis1.00
    		Glycosaminoglycan biosynthesis - heparan sulfate0.83

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    5/19        Reactome Pathways for B3GAT1 (see all 19)
        Chondroitin sulfate/dermatan sulfate metabolism
    MPS VI - Maroteaux-Lamy syndrome
    Metabolism
    Disease
    MPS II - Hunter syndrome


    3         Kegg Pathways  (Kegg details for B3GAT1):
        Glycosaminoglycan biosynthesis - chondroitin sulfate
    Glycosaminoglycan biosynthesis - heparan sulfate
    Metabolic pathways

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


    B3GAT1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for B3GAT1

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

    5/7 Interacting proteins for B3GAT1 (ENSP000003078754) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

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

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    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



    Drugs & Compounds
    for B3GAT1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    B3GAT1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for B3GAT1

    10/43 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

    10/23 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about B3GAT1 / B3GA1 

    Transcripts
    for B3GAT1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    8/34 QIAGEN miScript miRNA 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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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for B3GAT1 (see all 7)
    OriGene shRNA RFP: B3GAT1
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat B3GAT1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for B3GAT1 (see all 5)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): B3GAT1 (NM_018644)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat B3GAT1 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for B3GAT1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat B3GAT1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat B3GAT1

    Additional cDNA 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 

    24/79 AceView cDNA sequences (see all 79):

    F12927 BE550759 BC010466 AI457785 BM722973 T31136 BM702567 BE218899 
    NM_054025 AL834455 BE550988 BE550952 BE549719 BM724399 CD635532 BM677435 
    CR457098 Z45124 NM_018644 AA339469 Z40857 AI858538 BF740222 AI694943 

    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

    Expression
    for B3GAT1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    B3GAT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATGACCACTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    B3GAT1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    8 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Head MesenchymeBranchial Arch 1Cranial Neural Crest CellsNeural Crest
    Head MesenchymeHead MesenchymeRhombencephalic Neural Crest CellsNeural Crest
    Head MesenchymePrechordal MesenchymeDiencephalic Neural Crest CellsNeural Crest
    Head MesenchymePrechordal MesenchymeMesencephalic Neural Crest CellsNeural Crest
    Head MesenchymeBranchial Arch 3,4,6Cardiac Neural Crest CellsNeural Crest
    HeartPurkinje FibersPurkinje Fiber CellsMyocardium
    Neural CrestCardiac Neural CrestCardiac Neural Crest CellsNeural Crest
    Neural CrestCranial Neural CrestCranial Neural Crest CellsNeural Crest
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 5 LifeMap Cells 
    NameCategory
    PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)Endothelium
    Neural rosettes (Derivation of neural...)
    HNK1+p75+ cells (Derivation of neural...)
    HNK1+p75+ cells (Derivation of neural...)
    Neural crest-like cells (Directed differentia...)

    See B3GAT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for B3GAT1

    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
    for B3GAT1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for B3GAT1 gene from 8/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves B3GAT11 beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase more 79.64(n)
    90.42(a)    		   373949  XM_417880.3  XP_417880.2 
    lizard
    (Anolis carolinensis)    		 Reptilia B3GAT16
    		 --
    		 84(a)
    		 1 ↔ 1
    		 GL343396.1(758483-775347)
    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 b3gat11 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)   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons IRX9-L6
    IRX96
    (see all 4)    		 nucleotide-diphospho-sugar transferase domain-cont...
    nucleotide-diphospho-sugar transferases-like prote...
    (see all 4)    		 22(a)
    17(a)
    (see all 4)    		 many ↔ many
    many ↔ many
    (see all 4)    		 1(9603178-9606101)
    2(15587394-15589257)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 10)    		 glycosyltransferase family 43 protein, putative, e...
    glycosyltransferase family 43 protein, putative, e...
    (see all 10)    		 24(a)
    22(a)
    (see all 10)    		 many ↔ many
    many ↔ many
    (see all 10)    		 10(7514938-7519076)
    7(29564832-29570722)


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

    Paralogs
    for B3GAT1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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



    Genomic Variants
    for B3GAT1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/732 NCBI SNPs in B3GAT1 are shown (see all 732)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1379018141,2
    		--134247963(+) CCCCCA/GCCCCG 2 -- ds50010--------
    rs1923349371,2
    		--134247967(+) CGCCCC/TGTCAG 2 -- ds50010--------
    rs1844931561,2
    		--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
    		--134248069(+) GCTGCA/GTGTCA 2 -- ds50010--------
    rs1443399541,2
    		--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--------
    rs1926297711,2
    		--134248115(+) GGAGGC/TCTCTG 2 -- ds50010--------
    rs1845518901,2
    		--134248124(+) TGTGGC/TCACCC 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for B3GAT1 (134248398 - 134281812 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for B3GAT1
         2 CNVs: 5279 5280
         1 Indel: 66106

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    Disorders / Diseases
    for B3GAT1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    B3GAT1 for disorders           About GeneDecksing

    OMIM gene information: 151290    OMIM disorders: --

    20/67 diseases for B3GAT1 (see all 67):    About MalaCards
    malignant peripheral nerve sheath tumor    natural killer cell leukemia    hypersensitivity reaction type ii disease    human immunodeficiency virus infectious disease
    cutaneous fibrous histiocytoma    non-small cell lung carcinoma    basaloid squamous cell carcinoma    fibrous histiocytoma
    chronic obstructive pulmonary disease    b-cell lymphomas    felty's syndrome    oral leukoplakia
    merkel cell carcinoma    neurilemmoma    leukoplakia    squamous cell carcinoma
    inflammatory bowel disease    perineurioma    acute lymphoblastic leukemia    rheumatoid arthritis

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

    7 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: B3GAT1 (2 documents)

    Export disorders for B3GAT1 gene to outside databases

    Publications
    for B3GAT1 gene

    (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)
    About This Section

    PubMed articles for B3GAT1 gene, integrated from 9 sources (see all 166):
    (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. (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. (2000)
    3. 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. (2007)
    4. 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. (2005)
    5. Lung CD57+ cell density is increased in very severe CO PD. (PubMed id 22127595)1 Olloquequi J....Montes J.F. (2012)
    6. Frequent and strong antibody-mediated natural killer c ell activation in response to HIV-1 Env in individuals with chronic HIV-1 infect ion. (PubMed id 22496218)1 Thobakgale C.F....Altfeld M. (2012)
    7. Significant increase of CD57+ cells in pulmonary lymp hoid follicles of COPD patients. (PubMed id 20525712)1 Olloquequi J....Ferrer J. (2011)
    8. Altered cytokine levels and increased CD4+CD57+ T cel ls in the peripheral blood of hepatitis C virus-related hepatocellular carcinom a patients. (PubMed id 21491089)1 Shiraki T....Ichinose M. (2011)
    9. Increased deposition of chondroitin/dermatan sulfate glycosaminoglycan and upregulation of I^1,3-glucuronosyltransferase I in pulmona ry fibrosis. (PubMed id 21056957)1 Venkatesan N....Ludwig M.S. (2011)
    10. Polymorphisms in B3GAT1, SLC9A9 and MGAT5 are associat ed with variation within the human plasma N-glycome of 3533 European adults. (PubMed id 21908519)1 Huffman J.E....Lauc G. (2011)

    External Searches for B3GAT1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing B3GAT1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 27087 HGNC: 921 AceView: B3GAT1 Ensembl:ENSG00000109956 euGenes: HUgn27087
    ECgene: B3GAT1 Kegg: 27087 H-InvDB: B3GAT1

    Other Databases showing B3GAT1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing B3GAT1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for B3GAT1 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/

    Intellectual Property
    for B3GAT1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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