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B4GALT6 Gene

protein-coding   GIFtS: 57
GCID: GC18M029226

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)
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Aliases
UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase, Polypeptide 61 2     Beta-1,4-Galactosyltransferase 62
Beta-1,4-GalTase 62 3     beta4Gal-T62
UDP-Gal:Beta-GlcNAc Beta-1,4-Galactosyltransferase 62 3     beta4GalT-VI2
UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,4-Galactosyltransferase 62 3     UDP-Gal:Glucosylceramide Beta-1,4-Galactosyltransferase2
4-galactosyltransferase1     Beta4Gal-T63
UDP-Gal:Glucosylceramide Beta-11     EC 2.4.1.-3
B4Gal-T62     b4Gal-T63

External Ids:    HGNC: 9291   Entrez Gene: 93312   Ensembl: ENSG000001182767   OMIM: 6040175   UniProtKB: Q9UBX83   

Export aliases for B4GALT6 gene to outside databases

Previous GC identifers: GC18M029022 GC18M027455 GC18M027457 GC18M026059


(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 B4GALT6 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. The
enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. (provided by
RefSeq, Jul 2008)

GeneCards Summary for B4GALT6 Gene:
B4GALT6 (UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6) is a protein-coding gene. Diseases associated with B4GALT6 include prostate carcinoma in situ, and morquio syndrome b. GO annotations related to this gene include UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity and galactosyltransferase activity. An important paralog of this gene is B4GALT5.

UniProtKB/Swiss-Prot: B4GT6_HUMAN, Q9UBX8
Function: Required for the biosynthesis of glycosphingolipids




(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_000018.10  NT_010966.15  NC_018929.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the B4GALT6 gene promoter:
         AhR   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   CUTL1   POU3F2   E47   RORalpha1   POU2F1   POU2F1a   HFH-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): B4GALT6 promoter sequence
   Search Chromatin IP Primers for B4GALT6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat B4GALT6


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

Entrez Gene cytogenetic band: 18q11   Ensembl cytogenetic band:  18q12.1   HGNC cytogenetic band: 18q11

B4GALT6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B4GALT6 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M029226:  view genomic region     (about GC identifiers)

Start:
29,202,209 bp from pter      End:
29,265,799 bp from pter
Size:
63,591 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: B4GT6_HUMAN, Q9UBX8 (See protein sequence)
Recommended Name: Beta-1,4-galactosyltransferase 6  
Size: 382 amino acids; 44914 Da
Cofactor: Manganese or magnesium
Secondary accessions: O60514

Explore the universe of human proteins at neXtProt for B4GALT6: NX_Q9UBX8

Explore proteomics data for B4GALT6 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn71, Asn75, Asn83, Asn84, Asn99, Asn122, Asn307, Asn367

  • See B4GALT6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004766.2  
    ENSEMBL proteins: 
     ENSP00000306459   ENSP00000237019   ENSP00000372613   ENSP00000463961  
    Reactome Protein details: Q9UBX8

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

    3 InterPro protein domains:
     IPR003859 Galactosyl_T
     IPR027995 Glyco_transf_7N
     IPR027791 Galactosyl_T_C

    Graphical View of Domain Structure for InterPro Entry Q9UBX8

    ProtoNet protein and cluster: Q9UBX8

    1 Blocks protein domain: IPB003859 Metazoa galactosyltransferase

    UniProtKB/Swiss-Prot: B4GT6_HUMAN, Q9UBX8
    Similarity: Belongs to the glycosyltransferase 7 family


    B4GALT6 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: B4GT6_HUMAN, Q9UBX8
    Function: Required for the biosynthesis of glycosphingolipids
    Catalytic activity: UDP-galactose + glucosylceramide = UDP + lactosylceramide
    Catalytic activity: UDP-alpha-D-galactose + beta-D-glucosyl-(1<->1)-ceramide = UDP +
    beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide
    Enzyme regulation: Inhibited by EDTA (By similarity)
    Biophysicochemical properties: Kinetic parameters: KM=3 uM for glucosylceramide; KM=0.5 uM for UDP-galactose;
    Vmax=0.06 nmol/h/mg enzyme toward glucosylceramide; Vmax=86 nmol/h/mg enzyme toward UDP-galactose;

         Genatlas biochemistry entry for B4GALT6:
    UDP galactose

         Enzyme Number (IUBMB): EC 2.4.1.-1

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008378galactosyltransferase activity TAS9597550
    GO:0008489UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity ----
    GO:0016757transferase activity, transferring glycosyl groups ----
    GO:0046872metal ion binding IEA--
         
    B4GALT6 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for B4galt6):
     normal 

    B4GALT6 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for B4GALT6
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for B4GALT6
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    miRNA
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    miRTarBase miRNAs that target B4GALT6:
    hsa-mir-192-5p (MIRT026806), hsa-mir-215-5p (MIRT024717), hsa-mir-335-5p (MIRT018554)

    Block miRNA regulation of human, mouse, rat B4GALT6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate B4GALT6 (see all 67):
    hsa-miR-579 hsa-miR-361-5p hsa-miR-520e hsa-miR-106a hsa-miR-605 hsa-miR-30d hsa-miR-1304 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidB4GALT6 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat B4GALT6

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: B4GALT6 (NM_004775)
    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for B4GALT6


    (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
    B4GT6_HUMAN, Q9UBX8: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Trans
    cisternae of Golgi stack
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    extracellular2
    mitochondrion2
    cytoskeleton1
    cytosol1
    endoplasmic reticulum1
    lysosome1
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0016021integral component of membrane IEA--
    GO:0032580Golgi cisterna membrane IEA--

    B4GALT6 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 B4GALT6 About   (see all 8)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Sphingolipid Metabolism0.42
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS IIIB - Sanfilippo syndrome B0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    MPS II - Hunter syndrome0.45
    MPS IV - Morquio syndrome A0.45
    Glycosaminoglycan metabolism0.45
    Mucopolysaccharidoses0.45
    MPS IV - Morquio syndrome B0.45
    4Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Asparagine N-linked glycosylation0.49
    Metabolism of proteins0.30
    Post-translational protein modification0.43
    N-glycan antennae elongation in the medial/trans-Golgi0.00
    Transport to the Golgi and subsequent modification0.40
    N-Glycan antennae elongation0.00
    5Keratan sulfate/keratin metabolism
    Keratan sulfate/keratin metabolism0.85
    Keratan sulfate biosynthesis0.85

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for B4GALT6
        Sperm Motility

    1 BioSystems Pathway for B4GALT6
        Sphingolipid Metabolism

    3 Reactome Pathways for B4GALT6
        O-linked glycosylation of mucins
    N-Glycan antennae elongation
    Keratan sulfate biosynthesis


    2 Kegg Pathways  (Kegg details for B4GALT6):
        Sphingolipid metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: B4GT6_HUMAN, Q9UBX8
    Pathway: Protein modification; protein glycosylation


    B4GALT6 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for B4GALT6
    Interactions:

        Search GeneGlobe Interaction Network for B4GALT6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for B4GALT6 (ENSP000003064594) via UniProtKB, MINT, STRING, and/or I2D (see all 9)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    GBAENSP000003145084STRING: ENSP00000314508
    UGCGENSP000003633974STRING: ENSP00000363397
    A4GALTENSP000002490054STRING: ENSP00000249005
    B3GNT5ENSP000003161734STRING: ENSP00000316173
    B4GALNT1ENSP000003415624STRING: ENSP00000341562
    About this table

    Gene Ontology (GO): Selected biological process terms (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--

    B4GALT6 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 B4GALT6 (B4GT6)

    Selected HMDB Compounds for B4GALT6 (see all 45)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-O-Sulfogalactosylceramide (d18:1/12:0)Sulfatide (d18:1/12:0) (see all 13)852100-88-0--
    3-O-Sulfogalactosylceramide (d18:1/14:0)Sulfatide (d18:1/14:0) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/16:0)Sulfatide (d18:1/16:0) (see all 13)862509-48-6--
    3-O-Sulfogalactosylceramide (d18:1/18:0)Sulfatide (d18:1/18:0) (see all 13)244215-65-4--
    3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))Sulfatide (d18:1/18:1(9Z)) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/20:0)Sulfatide (d18:1/20:0) (see all 13)265096-81-9--
    3-O-Sulfogalactosylceramide (d18:1/22:0)Sulfatide (d18:1/22:0) (see all 13)265096-83-1--
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
    3-O-Sulfogalactosylceramide (d18:1/24:1(15Z))Sulfatide (d18:1/24:1(15Z)) (see all 13)151057-28-2--
    3-O-Sulfogalactosylceramide (d18:1/26:1(17Z))Sulfatide (d18:1/26:1(17Z)) (see all 13)928346-40-1--

    7 Novoseek inferred chemical compound relationships for B4GALT6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    laccer 96.7 36 19219548 (4), 8175761 (3), 18393821 (3), 16151023 (2) (see all 15)
    lactosylceramide 96.4 29 10320813 (4), 8175761 (2), 15936020 (2), 8808768 (1) (see all 19)
    glucosylceramide 92.4 18 7592537 (1), 8808768 (1), 11740154 (1), 19411660 (1) (see all 14)
    glycosphingolipid 86 2 15611100 (1), 8175761 (1)
    shiga toxin 81.5 3 15633106 (1)
    ceramide 76.6 5 11740154 (1), 8781979 (1), 12232838 (1), 16100442 (1) (see all 5)
    galactose 40.6 2 15633106 (1), 10320813 (1)



    B4GALT6 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,
    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 B4GALT6 gene: 
    NM_004775.3  

    Unigene Cluster for B4GALT6:

    UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6
    Hs.591063  [show with all ESTs]
    Unigene Representative Sequence: NM_004775
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000578114(uc002kwy.4 uc002kwz.4 uc010dma.3 uc010dmb.3)
    ENST00000306851 ENST00000237019 ENST00000383131 ENST00000579372
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate B4GALT6 (see all 67):
    hsa-miR-579 hsa-miR-361-5p hsa-miR-520e hsa-miR-106a hsa-miR-605 hsa-miR-30d hsa-miR-1304 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidB4GALT6 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: B4GALT6 (NM_004775)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat B4GALT6
    Primer
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    OriGene qPCR primer pairs and template standards for B4GALT6
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      QuantiTect SYBR Green Assays in human, mouse, rat B4GALT6
      QuantiFast Probe-based Assays in human, mouse, rat B4GALT6

    Additional mRNA sequence: 

    AB024742.2 AB209194.1 AF038664.1 AF069054.1 AF097159.1 AK314860.1 BC069620.1 BC069642.1 
    BC074835.2 BC074884.2 

    5 DOTS entries:

    DT.75147548  DT.100672206  DT.95174538  DT.92418574  DT.95345331 

    Selected AceView cDNA sequences (see all 49):

    BC069620 AB024742 Z40117 BC074884 AA599568 F07007 BC074835 BF001183 
    BE218836 AW451997 BM801139 BF378154 AW452091 BE218936 AI694586 BE222413 
    AL601725 BE241586 AF038664 AI915338 BC069642 AF069054 NM_004775 AW451235 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for B4GALT6    About this scheme

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


    ECgene alternative splicing isoforms for B4GALT6

    (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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    B4GALT6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    B4GALT6 Expression
    About this image


    B4GALT6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Double Negative 2 Thymocytes Thymus
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Epithelial Cells
             Fetal Matrix Cells Hair Follicle
     
     Thymus (Hematopoietic System)
             Double Negative 2 Thymocytes Thymus
    B4GALT6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    B4GALT6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591063

    UniProtKB/Swiss-Prot: B4GT6_HUMAN, Q9UBX8
    Tissue specificity: High expression in brain and adrenal gland, lower in liver, lung, colon and peripheral white
    blood cells

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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 B4GALT6 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia B4galt61 , 5 UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, more1, 5 88.31(n)1
    94.76(a)1
      18 (11.48 cM)5
    563861  NM_019737.21  NP_062711.11 
     206845995 
    chicken
    (Gallus gallus)
    Aves B4GALT61 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, more 82.97(n)
    91.03(a)
      421092  NM_001031016.1  NP_001026187.1 
    lizard
    (Anolis carolinensis)
    Reptilia B4GALT66
    UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase...
    87(a)
    1 ↔ 1
    GL343207.1(3762842-3774773)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC060428.12   -- 78.38(n)    BC060428.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc557302 similar to UDP-GalbetaGlcNAc beta 1,4- galactosyltransferase, more 77.91(n)   393912  BC046890.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG145173 UDP-galactose-glucosylceramide
    beta-1,4-galactosyltransferase
    38(a)
    (best of 2)
      98F5   --
    worm
    (Caenorhabditis elegans)
    Secernentea W02B12.113 n-acetyllactosamine synthase 41(a)   II(11473999-11475645)   --


    ENSEMBL Gene Tree for B4GALT6 (if available)
    TreeFam Gene Tree for B4GALT6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for B4GALT6 gene
    B4GALT52  B4GALT22  B4GALT12  B4GALT42  B4GALT72  B4GALT32  
    5 SIMAP similar genes for B4GALT6 using alignment to 5 protein entries:     B4GT6_HUMAN (see all proteins):
    B4GALT5    B4GALT4    B4GALT1    B4GALT3    B4GALT2

    B4GALT6 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 B4GALT6 (see all 1144)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1867778971,2
    C--29201854(+) TCATCA/C/GATACC 1 -- ds50010--------
    rs775639741,2
    C--29202039(+) AAGGTC/GATCTC 1 -- ds50010--------
    rs1502338571,2
    --29202049(+) CCACCC/TGTATT 1 -- ds50010--------
    rs792427211,2
    C,F--29202210(+) AAAGTC/ATTTAG 1 -- ut311Minor allele frequency- A:0.04WA 118
    rs1389546121,2
    C--29202333(+) AGAAGA/CCTTTC 1 -- ut310--------
    rs1919097511,2
    C--29202395(+) TACTAC/TAACCA 1 -- ut310--------
    rs1494223751,2
    C--29202453(+) TACAAC/TAGTAT 1 -- ut310--------
    rs1833043351,2
    --29202535(+) CACTTA/GTAGGA 1 -- ut310--------
    rs1162031171,2
    C,F--29202618(+) AAAGGG/ATATAT 1 -- ut311Minor allele frequency- A:0.04WA 118
    rs1877948631,2
    --29202756(+) AGAATA/TAACTA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for B4GALT6 (29202209 - 29265799 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for B4GALT6:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2716936CNV Deletion23290073
    esv2577449CNV Deletion19546169
    nsv819046CNV Loss19587683
    nsv909519CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604017    OMIM disorders: --

    16 diseases for B4GALT6:    
    About MalaCards
    prostate carcinoma in situ    morquio syndrome b    congenital disorder of glycosylation    sly syndrome
    mucopolysaccharidoses    polycystic kidney disease    kidney disease    labyrinthitis
    lateral sclerosis    amyotrophic lateral sclerosis    schizophrenia    endotheliitis
    melanoma    hiv-1    prostatitis    cerebritis

    2 diseases from the University of Copenhagen DISEASES database for B4GALT6:
    Congenital disorder of glycosylation     Prostate carcinoma in situ

    B4GALT6 for disorders           About GeneDecksing

    Genetic Association Database (GAD): B4GALT6

    Export disorders for B4GALT6 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 B4GALT6 gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with B4GALT6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The expanding beta 4-galactosyltransferase gene family: messages from the databanks. (PubMed id 9597550)1, 2, 3 Lo N.-W.... Shaper N.L. (Glycobiology 1998)
    2. cDNA cloning and expression of human lactosylceramide synthase. (PubMed id 10320813)1, 2, 9 Takizawa M.... Matsuo N. (Biochim. Biophys. Acta 1999)
    3. Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. (PubMed id 19451621)1, 4 Landers J.E....Brown R.H. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Molecular cloning, genomic organization, and mapping of beta 4GalT- VIb, a brain abundant member of beta 4-galactosyltransferase gene family, to human chromosome 18q12.1. (PubMed id 12180132)1, 3 Fan Y....Zhao S. (DNA Seq. 2002)
    6. Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions. (PubMed id 10580128)1, 2 Amado M.... Clausen H. (Biochim. Biophys. Acta 1999)
    7. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1 Gevaert K.... Vandekerckhove J. (Nat. Biotechnol. 2003)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. Purification of uridine diphosphate-galactose:glucosyl ceramide, beta 1-4 galactosyltransferase from human kidney. (PubMed id 1551920)2 Chatterjee S.... Khurana S. (J. Biol. Chem. 1992)
    10. Characterization of the secreted, native gp120 and gp160 of the human immunodeficiency virus type 1. (PubMed id 2187500)1 Kalyanaraman V.S....Sarngadharan M.G. (AIDS Res. Hum. Retroviruses 1990)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9331 HGNC: 929 AceView: B4GALT6 Ensembl:ENSG00000118276 euGenes: HUgn9331
    ECgene: B4GALT6 Kegg: 9331 H-InvDB: B4GALT6

    (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 B4GALT6 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B4GALT6
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_441

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for B4GALT6 gene:
    Search GeneIP for patents involving B4GALT6

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



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