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B3GALT1 Gene

protein-coding   GIFtS: 49

GC02P168383
UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
Beta3GalT1 3
EC 2.4.1.- 3
MGC126594 2
beta-3-galt1 2
beta3Gal-T1 1, 2
Descriptions
Beta-1,3-GalTase 1 3
UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase 1 2
UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase,
polypeptide 1 2
UDP-galactose:beta-N-acetyl-glucosamine-beta-1,3-galactosyltransferase
1 3
External Ids
HGNC: 9161
Entrez Gene: 87082
UniProtKB: Q9Y5Z63
Ensembl: ENSG000001723187
Search outside databases for aliases for B3GALT1 gene

Previous GC identifers: GC02P166727 GC02P167216 GC02P168639 GC02P168878 GC02P168879 GC02P168500

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for B3GALT1:
This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family
encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different
donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars
(N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related
to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon.
The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT
proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas
beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes
during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups:
beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is expressed
exclusively in the brain. The encoded protein shows strict donor substrate specificity for
UDP-galactose. [provided by RefSeq]

UniProtKB/Swiss-Prot: B3GT1_HUMAN, Q9Y5Z6
Function: Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates
with a terminal beta-N-acetylglucosamine (beta-GlcNAc) residue. Involved in the biosynthesis of
the carbohydrate moieties of glycolipids and glycoproteins. Inactive towards substrates with
terminal alpha-N-acetylglucosamine (alpha-GlcNAc) or alpha-N-acetylgalactosamine (alpha-GalNAc)
residues

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the B3GALT1 gene  

Entrez Gene cytogenetic band: 2q24.3   Ensembl cytogenetic band:  2q24.3   HGNC cytogenetic band: 2q24.3

B3GALT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P168383:     (about GC identifiers)

Start:
168,383,428 bp from pter
End:
168,435,612 bp from pter
Size:
52,185 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000002.10  NT_005403.16  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: B3GT1_HUMAN, Q9Y5Z6 (See protein sequence)
Recommended Name: Beta-1,3-galactosyltransferase 1  
Size: 326 amino acids; 37993 Da
Cofactor: Manganese (By similarity)
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein (Probable)
Secondary accessions: Q53SS2

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_066191.1  

    ENSEMBL proteins: 
    ENSP00000303740 ENSP00000376456 


    Human Recombinant Proteins 
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    Recombinant Proteins from Abcam (B3GALT1)
    Human Recombinant Proteins from Abnova (B3GALT1)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    4 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139 Golgi membrane IEA--
    GO:0005794 Golgi apparatus IEA--
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane NAS--
    About this table

    Antibodies for B3GALT1: 
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    Antibodies from Abcam (B3GALT1), each with their AbpromiseSM
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    Search Novus for antibodies for B3GALT1

    Assays for B3GALT1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    1 InterPro domain/family:
     IPR002659 Glyco_trans_31


       GeneDecks  B3GALT1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q9Y5Z6

    ProtoNet protein and cluster: Q9Y5Z6

    1 Blocks protein family: IPB002659 Glycosyl transferase

    UniProtKB/Swiss-Prot: B3GT1_HUMAN, Q9Y5Z6
    Similarity: Belongs to the glycosyltransferase 31 family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (B3GALT1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (B3GALT1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_020981

                  Applied Biosystems Silencer® siRNAs for B3GALT1

                  Sigma-Aldrich siRNA for B3GALT1  
                         Sigma-Aldrich shRNA for B3GALT1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for B3GALT1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_020981
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_020981
                                     untagged cDNA clone in CMV expression vector: NM_020981 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_020981

    UniProtKB/Swiss-Prot: B3GT1_HUMAN, Q9Y5Z6
    Function: Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates
    with a terminal beta-N-acetylglucosamine (beta-GlcNAc) residue. Involved in the biosynthesis of
    the carbohydrate moieties of glycolipids and glycoproteins. Inactive towards substrates with
    terminal alpha-N-acetylglucosamine (alpha-GlcNAc) or alpha-N-acetylgalactosamine (alpha-GalNAc)
    residues
    Enzyme Number (IUBMB): EC 2.4.1.- 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008378 galactosyltransferase activity IEA--
    GO:0008499 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity NAS--
    GO:0016757 transferase activity, transferring glycosyl groups IEA--
    GO:0030145 manganese ion binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    1 Invitrogen iPath™ Online BioAtlas - Pathway for B3GALT1 (Maps provided by GeneGo):
     Sphingolipid metabolism

       GeneDecks  B3GALT1 for the pathways selected above  
    About GeneDecksing

    1 Kegg Pathway  (Kegg details for B3GALT1):
     hsa00601 Glycosphingolipid biosynthesis - lacto and neolacto series

       GeneDecks  B3GALT1 for the pathways selected above  
    About GeneDecksing
    UniProtKB/Swiss-Prot: B3GT1_HUMAN, Q9Y5Z6
    Pathway: Protein modification; protein glycosylation


    5/9 Interacting proteins for B3GALT1 (ENSP000003037403) via UniProtKB, MINT, and/or STRING (see all 9 )

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ST3GAL4ENSP000002395973STRING (score=.911)
    FUT1ENSP000003120213STRING (score=.91)
    FUT3ENSP000003056033STRING (score=.91)
    B3GNT5ENSP000003161733STRING (score=.899)
    ST3GAL3ENSP000002629153STRING (score=.899)
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006486 protein amino acid glycosylation NAS--
    GO:0009312 oligosaccharide biosynthetic process IEA--
    GO:0030259 lipid glycosylation NAS--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for B3GALT1

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (B3GALT1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (B3GALT1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_020981

                  Sigma-Aldrich siRNA for B3GALT1  
                         Sigma-Aldrich shRNA for B3GALT1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_020981  

    REFSEQ mRNAs for B3GALT1 gene: 

    NM_020981.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_020981  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_020981
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_020981
                                     untagged cDNA clone in CMV expression vector: NM_020981 

    Additional cDNA sequence: 

    AF117222.1 BC101545.1 BC104813.1 

    2 DOTS entries:

    DT.92041619  DT.120931354 

    6 AceView cDNA sequences:

    NM_020981 BX279676 AF117222 BG207694 AW196495 BV202899 

    highest scoring ESTs for B3GALT1:

    AF117222 AW196495 BG207694 BX279676 NM_020981 BC101545 BC104813 AA016019 AA016071 AA018308 

    Unigene Cluster for B3GALT1:

    UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1
    Hs.657258  [show with all ESTs]
    Unigene Representative Sequence: NM_020981


    GeneLoc Exon Structure

    2 Ensembl transcripts including schematic representations:
    ENST00000305861  ENST00000392690  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    B3GALT1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for B3GALT1

    1 / 2 / 3

    4 probe-sets matching B3GALT1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    222969_at2, 3 U133-B 1 1.00 1.00 -- -- AF117222 0.80 1.00 0.91 1

    220829_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_020981 0.60 1.00 0.82 1

    222969_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    220829_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.657258

    UniProtKB/Swiss-Prot: B3GT1_HUMAN, Q9Y5Z6
    Tissue specificity: Detected in brain and colon mucosa and to a lesser extent in colon
    adenocarcinoma cells

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for B3GALT1 gene from 5/13 species (see all 13 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    B3GALT11   -- UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, more 92.64(n)
    99.69(a)
    488386  XM_545508.2  XP_545508.2 
    chimpanzee
    (Pan troglodytes)
    B3GALT11   -- UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, more 99.18(n)
    100(a)
    459710  NM_001009096.1  NP_001009096.1 
    cow
    (Bos taurus)
    B3GALT11   -- UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, more 91.41(n)
    99.08(a)
    539027  XM_584336.3  XP_584336.2 
    rat
    (Rattus norvegicus)
    B3galt11   -- UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, more 91.1(n)
    100(a)
    366064  XM_345362.3  XP_345363.1 
    mouse
    (Mus musculus)
    B3galt11, 5 25
    UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, more1, 5 90.49(n)1
    100(a)1
    268771  NM_020283.21  NP_064679.21 
     AB0391345  AB0391355  (see all 21)
    About this table        Species with no ortholog for B3GALT1

    ENSEMBL Gene Tree for B3GALT1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for B3GALT1 gene
    B3GALT22  B3GALNT12  B3GALT52  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/269 NCBI SNPs in B3GALT1 are shown (see all 269 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 98)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 2 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs8367221,2
    A,C,F,H168383434(-) AGCTGC/TGTAGC 1 -- ut51 ese34Minor allele frequency- T:0.38EU EA WA 410
    rs8367171,2
    A,C,F,H168382203(+) gtaccG/Atcatc 1 -- ng518Minor allele frequency- A:0.39EU EA WA NA 578
    rs8367201,2
    A,C,F,H168383008(+) CTAAAA/TATTGG 1 -- ng514Minor allele frequency- T:0.39EU EA WA 416
    rs124668171,2
    C,F168434905(+) GCTATC/AAGTTC 1 -- ut31 ese34Minor allele frequency- A:0.38NA EA 362
    rs8367031,2
    F,H168433725(+) CCTTTG/CGAAGA 1 -- ut514Minor allele frequency- C:0.02EU EA WA 420
    --
    rs8367191,2
    A,C168382884(+) CTCACA/GTGGAC 1 -- ng51 tfbs30--------
    rs8367181,2
    A,C168382726(+) GGTGCA/GCATGC 1 -- ng510--------
    rs8367231,2
    A,C168383452(-) GTGCCC/TGTGCC 1 -- ut51 ese30--------
    rs168542941,2
    F168433661(+) GCCCAT/CGGACA 1 -- ut51 ese33Minor allele frequency- C:0.01NA 142
    rs8367041,2
    F168434789(+) ACCAAT/CGTAAA 1 -- ut311Minor allele frequency- C:0.43MN 184
    About this table

    HapMap Linkage Disequilibrium images for B3GALT1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 603093

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/14 PubMed articles for B3GALT1 gene (see all 14 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     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, and/or H-InvDB)
    About This Section

    Entrez Gene: 8708 HGNC: 916 AceView: B3GALT1 Ensembl:ENSG00000172318 euGenes: HUgn8708
    ECgene: B3GALT1 H-InvDB: B3GALT1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B3GALT1
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_429
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for B3GALT1:
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      Free SNP selection tool



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