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

B4GALT3 Gene

protein-coding   GIFtS: 57
GCID: GC01M161141

UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase, Polypeptide...

  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)
About This Section

Aliases
UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase, Polypeptide 31 2     Beta-1,4-Galactosyltransferase 32
Beta-1,4-GalTase 32 3     Beta-N-Acetylglucosaminyl-Glycolipid Beta-1,4-Galactosyltransferase 32
b4Gal-T32 3     beta4Gal-T32
UDP-Gal:Beta-GlcNAc Beta-1,4-Galactosyltransferase 32 3     Beta4Gal-T33
UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,4-Galactosyltransferase 32 3     EC 2.4.1.-3

External Ids:    HGNC: 9261   Entrez Gene: 87032   Ensembl: ENSG000001588507   OMIM: 6040145   UniProtKB: O605123   

Export aliases for B4GALT3 gene to outside databases

Previous GC identifers: GC01M158852 GC01M156873 GC01M157918 GC01M158357 GC01M157954 GC01M159407 GC01M132498


(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 B4GALT3 Gene:
This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound
glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer
galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct
function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane
proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and
which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form
four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7.
This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of
poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein
have been found for this gene. (provided by RefSeq, Dec 2010)

GeneCards Summary for B4GALT3 Gene: 
B4GALT3 (UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3) is a protein-coding gene. Diseases associated with B4GALT3 include progeria, and morquio syndrome b, and among its related super-pathways are WNT ligand biogenesis and trafficking and Keratan sulfate/keratin metabolism. GO annotations related to this gene include N-acetyllactosamine synthase activity and galactosyltransferase activity. An important paralog of this gene is B4GALT5.

UniProtKB/Swiss-Prot: B4GT3_HUMAN, O60512
Function: Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as
the carbohydrate moieties of glycolipids

Gene Wiki entry for B4GALT3 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the B4GALT3 gene promoter:
         Spz1   AP-1   MyoD   HNF-4alpha2   NF-kappaB   HNF-4alpha1   GATA-1   NF-kappaB1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidB4GALT3 promoter sequence
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat B4GALT3


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

Entrez Gene cytogenetic band: 1q21-q23   Ensembl cytogenetic band:  1q23.3   HGNC cytogenetic band: 1q21-q23

B4GALT3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B4GALT3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M161141:  view genomic region     (about GC identifiers)

Start:
161,141,100 bp from pter      End:
161,147,758 bp from pter
Size:
6,659 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: B4GT3_HUMAN, O60512 (See protein sequence)
Recommended Name: Beta-1,4-galactosyltransferase 3  
Size: 393 amino acids; 43928 Da
Cofactor: Manganese (By similarity)
Subcellular location: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Trans
cisternae of Golgi stack
Secondary accessions: D3DVG3 O60910 Q9BPZ4 Q9H8T2
Alternative splicing: 2 isoforms:  O60512-1   O60512-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for B4GALT3: NX_O60512

Explore proteomics data for B4GALT3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O60512

  • B4GALT3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    B4GALT3 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001186802.1  NP_001186803.1  NP_003770.1  

    ENSEMBL proteins: 
     ENSP00000320965   ENSP00000356977  
    Reactome Protein details: O60512
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    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IDA--
    GO:0016021integral to membrane IEA--
    GO:0032580Golgi cisterna membrane IEA--

    B4GALT3 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    B4GT: Beta 4-glycosyltransferases

    1 InterPro protein domain:
     IPR003859 Galactosyl_T_2_met

    Graphical View of Domain Structure for InterPro Entry O60512

    ProtoNet protein and cluster: O60512

    1 Blocks protein domain: IPB003859 Metazoa galactosyltransferase

    UniProtKB/Swiss-Prot: B4GT3_HUMAN, O60512
    Similarity: Belongs to the glycosyltransferase 7 family


    B4GALT3 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: B4GT3_HUMAN, O60512
    Function: Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as
    the carbohydrate moieties of glycolipids
    Catalytic activity: UDP-alpha-D-galactose + N-acetyl-beta-D-glucosaminylglycopeptide = UDP +
    beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminylglycopeptide
    Catalytic activity: UDP-alpha-D-galactose + N-acetyl-D-glucosamine = UDP + N-acetyllactosamine
    Biophysicochemical properties: Kinetic parameters: KM=63 uM for GlcNAc-B-S-pNP;

         Genatlas biochemistry entry for B4GALT3:
    UDP galactose

         Enzyme Number (IUBMB): EC 2.4.1.-1

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003831beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity IEA--
    GO:0003945N-acetyllactosamine synthase activity IEA--
    GO:0008378galactosyltransferase activity TAS9405390
    GO:0016757transferase activity, transferring glycosyl groups ----
    GO:0046872metal ion binding IEA--
         
    B4GALT3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for B4GALT3:
     Increased G2M DNA content 

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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for B4GALT3 About   (see all 10)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Asparagine N-linked glycosylation
    Asparagine N-linked glycosylation0.77
    N-Glycan biosynthesis0.52
    WNT ligand biogenesis and trafficking0.77
    Post-translational protein modification0.44
    Signaling by Wnt0.62
    Metabolism of proteins0.35
    2Keratan sulfate biosynthesis
    Keratan sulfate biosynthesis0.82
    Glycosaminoglycan biosynthesis - keratan sulfate0.43
    Keratan sulfate/keratin metabolism0.82
    3Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    4MPS IIIC - Sanfilippo syndrome C
    MPS IIIC - Sanfilippo syndrome C0.48
    Glycosaminoglycan metabolism0.48
    MPS IV - Morquio syndrome A0.48
    MPS IIID - Sanfilippo syndrome D0.48
    MPS VI - Maroteaux-Lamy syndrome0.48
    MPS I - Hurler syndrome0.48
    MPS IV - Morquio syndrome B0.48
    MPS IX - Natowicz syndrome0.48
    5N-glycan antennae elongation in the medial/trans-Golgi
    N-glycan antennae elongation in the medial/trans-Golgi0.75
    Transport to the Golgi and subsequent modification0.56
    N-Glycan antennae elongation0.75

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for B4GALT3
        Sperm Motility

    5/27        Reactome Pathways for B4GALT3 (see all 27)
        MPS VI - Maroteaux-Lamy syndrome
    Metabolism
    Disease
    Keratan sulfate/keratin metabolism
    Transport to the Golgi and subsequent modification


    5         Kegg Pathways  (Kegg details for B4GALT3):
        N-Glycan biosynthesis
    Other types of O-glycan biosynthesis
    Glycosaminoglycan biosynthesis - keratan sulfate
    Glycosphingolipid biosynthesis - lacto and neolacto series
    Metabolic pathways

    UniProtKB/Swiss-Prot: B4GT3_HUMAN, O60512
    Pathway: Protein modification; protein glycosylation


    B4GALT3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for B4GALT3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/24 Interacting proteins for B4GALT3 (O605122, 3 ENSP000003209654) via UniProtKB, MINT, STRING, and/or I2D (see all 24)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARL15Q9NXU52, 3MINT-64611 I2D: score=5 
    SAT1P216732, 3MINT-63557 I2D: score=5 
    SURF2Q155272, 3, ENSP000003610324MINT-63176 I2D: score=4 STRING: ENSP00000361032
    B3GALT1ENSP000003037404STRING: ENSP00000303740
    B3GNT2ENSP000003055954STRING: ENSP00000305595
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0018146keratan sulfate biosynthetic process TAS--
    GO:0018279protein N-linked glycosylation via asparagine TAS--
    GO:0030203glycosaminoglycan metabolic process TAS--
    GO:0042339keratan sulfate metabolic process TAS--

    B4GALT3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    5 HMDB Compounds for B4GALT3    About this table
    CompoundSynonyms CAS #PubMed Ids
    Manganesemanganese 7439-96-5--
    N-Acetyl-D-glucosamine2-(acetylamino)-2-deoxyhexose (see all 9)7512-17-6--
    N-AcetyllactosamineD-galactopyranosyl (see all 8)32181-59-2--
    Uridine 5'-diphosphate5'-UDP (see all 9)58-98-0--
    Uridine diphosphategalactoseGDU (see all 39)2956-16-3--

    1 DrugBank Compound for B4GALT3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    N-Acetyl-D-glucosamine2-Acetamido-2-deoxy-D-glucose (see all 4)7512-17-6target--17139284 17016423

    Search CenterWatch for drugs/clinical trials and news about B4GALT3 / B4GT3

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for B4GALT3 gene (3 alternative transcripts): 
    NM_001199873.1  NM_001199874.1  NM_003779.3  

    Unigene Cluster for B4GALT3:

    UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3
    Hs.321231  [show with all ESTs]
    Unigene Representative Sequence: NM_001199873
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000319769(uc001fyp.1 uc001fyr.2 uc001fyq.2) ENST00000470882(uc009wud.2)
    ENST00000367998(uc001fys.2) ENST00000486938 ENST00000466504 ENST00000465740
    ENST00000493164 ENST00000496313 ENST00000487004 ENST00000460415 ENST00000482288
    ENST00000467863
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    Additional mRNA sequence: 

    AB024435.1 AF038661.1 AK094384.1 AK291455.1 BC000276.1 BC006099.1 BC009985.2 Y12509.1 

    24/28 DOTS entries (see all 28):

    DT.100844432  DT.100820316  DT.447372  DT.95367558  DT.95367553  DT.121391037  DT.95367546  DT.100820308 
    DT.99929812  DT.100820304  DT.100820317  DT.91964187  DT.100820309  DT.121390989  DT.100026114  DT.121390996 
    DT.91758535  DT.100820312  DT.121391039  DT.95367547  DT.100820307  DT.121390999  DT.121391019  DT.100820306 

    24/389 AceView cDNA sequences (see all 389):

    CR612341 BG823127 BI766191 BQ942399 CB960169 AI634632 BX279904 AA479088 
    CA442730 CR614082 CR592876 BM790939 AW630220 BM473632 BC009985 AA722707 
    BM544550 CB993605 BM906360 AW769481 NM_003779 AB024435 H27093 AA581956 

    GeneLoc Exon Structure

    5/22 Alternative Splicing Database (ASD) splice patterns (SP) for B4GALT3 (see all 22)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b · 11c ^ 12a · 12b · 12c ^ 13a · 13b ·
    SP1:              -     -     -     -     -     -     -                       -                                                     -                           
    SP2:              -     -     -     -     -     -     -                       -                                                                                 
    SP3:              -     -     -     -     -     -     -     -                                                                                                   
    SP4:              -     -     -     -     -     -     -                       -                                                                                 
    SP5:              -     -     -     -     -     -     -                                                                                                         

    ExUns: 13c · 13d ^ 14 ^ 15a · 15b ^ 16a · 16b · 16c
    SP1:                    -           -               
    SP2:                    -                           
    SP3:                    -                           
    SP4:                    -                           
    SP5:                    -                           


    ECgene alternative splicing isoforms for B4GALT3

    (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

    B4GALT3 expression in normal human tissues (normalized intensities)      B4GALT3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGAGAAGAG
    B4GALT3 Expression
    About this image


    B4GALT3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/15 selected tissues (see all 15) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Thalamus
             brain/midbrain   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             cd31+ cells   
     
     Eye (Sensory Organs)
             Retina
     
     Neural Crest (Gastrulation Derivatives)
             skeleton/cranium   

    See B4GALT3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for B4GALT3

    SOURCE GeneReport for Unigene cluster: Hs.321231

    UniProtKB/Swiss-Prot: B4GT3_HUMAN, O60512
    Tissue specificity: Found in various tissues. Highest expression in placenta, prostate, testis, ovary, intestine
    and muscle, and in fetal brain

        SABiosciences Expression via Pathway-Focused PCR Array including B4GALT3: 
              Glycosylation in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for B4GALT3 gene from 5/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia B4galt31 , 5 UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, more1, 5 88.8(n)1
    96.69(a)1
      1 (79.29 cM)5
    573701  NM_020579.21  NP_065604.21 
     1712703285 
    chicken
    (Gallus gallus)
    Aves LOC1008589291 beta-1,4-galactosyltransferase 3-like 73.59(n)
    81.42(a)
      100858929  XM_003643241.1  XP_003643289.1 
    lizard
    (Anolis carolinensis)
    Reptilia B4GALT36
    --
    --
    59(a)
    46(a)
    1 ↔ 1
    possible ortholog
    GL343781.1(81688-99403)
    3(181283651-181296630)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC041742.12   -- 73.81(n)    BC041742.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5617561 beta-1,4-galactosyltransferase 3-like 63.9(n)
    66.29(a)
      561756  XM_685164.4  XP_690256.2 


    ENSEMBL Gene Tree for B4GALT3 (if available)
    TreeFam Gene Tree for B4GALT3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for B4GALT3 gene
    B4GALT52  B4GALT22  B4GALT42  B4GALT12  B4GALT72  B4GALT62  
    5 SIMAP similar genes for B4GALT3 using alignment to 1 protein entry:     B4GT3_HUMAN:
    B4GALT1    B4GALT4    B4GALT5    B4GALT2    B4GALT6

    B4GALT3 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) 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

    10/234 SNPs in B4GALT3 are shown (see all 234)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs348789681,2
    C--161142231(+) AAAAG-/AAAAAA 3 -- int11Minor allele frequency- A:0.50NA 2
    rs57781971,2
    C--161142473(+) CTTAGTTAG/-  
            
    AATAG
    3 -- int11Minor allele frequency- -:0.00NA 2
    rs3755314621,2
    C--161142474(+) AATCT-/TTAG  
            
    TAGAA
    3 -- int10--------
    rs1129170731,2
    C--161144001(+) GACCAT/CCCTGG 3 -- int11Minor allele frequency- C:0.00CSA 1
    rs1116115351,2
    F--161144011(+) GCTAAC/TACGGT 3 -- int11Minor allele frequency- T:0.50CSA 2
    rs1858053181,2
    C,F--167637028(+) AGGGCC/TAAGGA 3 -- ds50011Minor allele frequency- T:0.00EU 1323
    rs1500061131,2
    C--167637040(+) TCAGA-/CCCCCC 3 -- ds50010--------
    rs1482929411,2
    F--167637140(+) TCCTAT/CGAGGG 3 -- ds50011Minor allele frequency- C:0.00NA 4544
    rs355870441,2
    C,F,H--167637341(+) TGCAGA/GAAGCA 3 -- ds50015Minor allele frequency- G:0.01NS NA 408
    rs1822074701,2
    --167637383(+) AAAATA/GTATCA 3 -- ut310--------

    HapMap Linkage Disequilibrium report for B4GALT3 (161141100 - 161147758 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for B4GALT3: --
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for B4GALT3

    (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.)
    About This Section
    OMIM gene information: 604014    OMIM disorders: --

    7 diseases for B4GALT3:    About MalaCards
    progeria    morquio syndrome b    burkitt's lymphoma    acute lymphoblastic leukemia
    lymphoblastic leukemia    leukemia    prostatitis


    B4GALT3 for disorders           About GeneDecksing


    Export disorders for B4GALT3 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)
    About This Section

    PubMed articles for B4GALT3 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with B4GALT3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A family of human beta4-galactosyltransferases. Cloning and expression of two novel UDP-galactose:beta-n-acetylglucosamine beta1, 4-galactosyltransferases, beta4Gal-T2 and beta4Gal-T3. (PubMed id 9405390)1, 2, 3, 9 Almeida R.... Clausen H. (1997)
    2. The expanding beta 4-galactosyltransferase gene family: messages from the databanks. (PubMed id 9597550)1, 2, 3 Lo N.-W.... Shaper N.L. (1998)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    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. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Galactosylation of N-linked oligosaccharides by human beta-1,4- galactosyltransferases I, II, III, IV, V, and VI expressed in Sf-9 cells. (PubMed id 11588157)1, 2 Guo S.... Furukawa K. (2001)
    7. Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions. (PubMed id 10580128)1, 2 Amado M.... Clausen H. (1999)
    8. b-1,4-Galactosyltransferase III enhances invasive phen otypes via b1-integrin and predicts poor prognosis in neuroblastoma. (PubMed id 23444218)1 Chang H.H....Huang M.C. (2013)
    9. Comparison of HPLC/ESI-FTICR MS versus MALDI-TOF/TOF M S for glycopeptide analysis of a highly glycosylated HIV envelope glycoprotein. (PubMed id 18565761)1 Irungu J....Desaire H. (2008)
    10. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)

    (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, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8703 HGNC: 926 AceView: B4GALT3 Ensembl:ENSG00000158850 euGenes: HUgn8703
    ECgene: B4GALT3 Kegg: 8703 H-InvDB: B4GALT3

    (According to HUGE)
    About This Section
      --

    (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 B4GALT3 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_438

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for B4GALT3 gene:
    Search GeneIP for patents involving B4GALT3

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



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