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

B4GALT1 Gene

protein-coding   GIFtS: 70
GCID: GC09M033100

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


(Previous symbol: GGTB2)
  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 11 2     B4GAL-T12
GGTB21 2 3 5     Beta-1,4-Galactosyltransferase 12
Beta-1,4-GalTase 12 3     beta4Gal-T12
UDP-Gal:Beta-GlcNAc Beta-1,4-Galactosyltransferase 12 3     Glycoprotein-4-Beta-Galactosyltransferase 22
UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,4-Galactosyltransferase 12 3     Lactose Synthase2
CDG2D2 5     Beta4Gal-T13
GT12 5     EC 2.4.1.-3
GTB2 5     b4Gal-T13

External Ids:    HGNC: 9241   Entrez Gene: 26832   Ensembl: ENSG000000860627   OMIM: 1370605   UniProtKB: P152913   

Export aliases for B4GALT1 gene to outside databases

Previous GC identifers: GC09M033422 GC09M033280 GC09M033094


(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 B4GALT1 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 is unique among the beta4GalT genes because it encodes an enzyme that participates both in
glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamine
residues that are either monosaccharides or the nonreducing ends of glycoprotein carbohydrate chains. The second
activity is restricted to lactating mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumin
to catalyze UDP-galactose + D-glucose <

GeneCards Summary for B4GALT1 Gene: 
B4GALT1 (UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1) is a protein-coding gene. Diseases associated with B4GALT1 include congenital disorder of glycosylation type 2d, and congenital disorder of glycosylation, and among its related super-pathways are WNT ligand biogenesis and trafficking and Keratan sulfate/keratin metabolism. GO annotations related to this gene include protein homodimerization activity and beta-tubulin binding. An important paralog of this gene is B4GALT5.

UniProtKB/Swiss-Prot: B4GT1_HUMAN, P15291
Function: The Golgi complex form catalyzes the production of lactose in the lactating mammary gland and could also
be responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the
carbohydrate moieties of glycolipids
Function: The cell surface form functions as a recognition molecule during a variety of cell to cell and cell to
matrix interactions, as those occurring during development and egg fertilization, by binding to specific
oligosaccharide ligands on opposing cells or in the extracellular matrix

Gene Wiki entry for B4GALT1 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_000009.11  NT_008413.18  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the B4GALT1 gene promoter:
         Pax-5   NRSF form 1   CUTL1   RelA   NF-kappaB   NRSF form 2   S8   FOXO4   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidB4GALT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for B4GALT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat B4GALT1


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

Entrez Gene cytogenetic band: 9p13   Ensembl cytogenetic band:  9p21.1   HGNC cytogenetic band: 9p13

B4GALT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B4GALT1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M033100:  view genomic region     (about GC identifiers)

Start:
33,104,080 bp from pter      End:
33,167,356 bp from pter
Size:
63,277 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: B4GT1_HUMAN, P15291 (See protein sequence)
Recommended Name: Beta-1,4-galactosyltransferase 1  
Size: 398 amino acids; 43920 Da
Cofactor: Manganese (By similarity)
Subunit: Homodimer; and heterodimer with alpha-lactabulmin to form lactose synthase
Subcellular location: Isoform Long: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein.
Cell membrane; Single-pass type II membrane protein. Cell surface. Note=Found in trans cisternae of Golgi
Subcellular location: Isoform Short: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein.
Note=Found in trans cisternae of Golgi
Subcellular location: Processed beta-1,4-galactosyltransferase 1: Secreted. Note=Soluble form found in body fluids
6/16 PDB 3D structures from and Proteopedia for B4GALT1 (see all 16):
2AE7 (3D)        2AEC (3D)        2AES (3D)        2AGD (3D)        2AH9 (3D)        2FY7 (3D)    
Secondary accessions: B2R710 D3DRL2 Q12909 Q12910 Q12911 Q14456 Q14509 Q14523
Alternative initiation: 2 isoforms:  P15291-1   P15291-2   

Explore the universe of human proteins at neXtProt for B4GALT1: NX_P15291

Explore proteomics data for B4GALT1 at MOPED 

Post-translational modifications:

  • UniProtKB: The soluble form derives from the membrane forms by proteolytic processing
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P15291

  • B4GALT1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    B4GALT1 Protein Expression
    REFSEQ proteins: NP_001488.2  
    ENSEMBL proteins: 
     ENSP00000369055   ENSP00000440341   ENSP00000445037  
    Reactome Protein details: P15291
    Human Recombinant Protein Products for B4GALT1: 
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    Sino Biological Recombinant Protein for B4GALT1
    Sino Biological Cell Lysate for B4GALT1 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000138Golgi trans cisterna IDA6121819
    GO:0000139Golgi membrane TAS--
    GO:0005576extracellular region IEA--
    GO:0005794Golgi apparatus IDA--
    GO:0005886plasma membrane TAS--

    B4GALT1 for ontologies           About GeneDecksing



    B4GALT1 Antibody Products: 
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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 P15291

    ProtoNet protein and cluster: P15291

    1 Blocks protein domain: IPB003859 Metazoa galactosyltransferase

    UniProtKB/Swiss-Prot: B4GT1_HUMAN, P15291
    Similarity: Belongs to the glycosyltransferase 7 family


    B4GALT1 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: B4GT1_HUMAN, P15291
    Function: The Golgi complex form catalyzes the production of lactose in the lactating mammary gland and could also
    be responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the
    carbohydrate moieties of glycolipids
    Function: The cell surface form functions as a recognition molecule during a variety of cell to cell and cell to
    matrix interactions, as those occurring during development and egg fertilization, by binding to specific
    oligosaccharide ligands on opposing cells or in the extracellular matrix
    Catalytic activity: UDP-alpha-D-galactose + D-glucose = UDP + lactose
    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

         Genatlas biochemistry entry for B4GALT1:
    UDP galactose

         Enzyme Number (IUBMB): EC 2.4.1.-1

         Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003831beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity IDA33805
    GO:0003945N-acetyllactosamine synthase activity IDA2120039
    GO:0004461lactose synthase activity IDA33805
    GO:0008092cytoskeletal protein binding IEA--
    GO:0008378galactosyltransferase activity NAS7540104
         
    B4GALT1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for B4GALT1:
     Cell division defect  Increased S DNA content 

         14 MGI mutant phenotypes (inferred from 3 alleles(MGI details for B4galt1):
     adipose tissue  cardiovascular system  cellular  digestive/alimentary  endocrine/exocrine gland 
     growth/size  hematopoietic system  homeostasis/metabolism  immune system  integument 
     mortality/aging  nervous system  reproductive system  respiratory system 

    B4GALT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for B4GALT1: B4galt1tm1Yiw B4galt1tm1Shur

       inGenious Targeting Laboratory - Custom generated mouse model solutions for B4GALT1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for B4GALT1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for B4GALT1 

    miRNA
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    miRTarBase miRNAs that target B4GALT1:
    hsa-mir-124 (MIRT002675)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat B4GALT1
    8/46 QIAGEN miScript miRNA Assays for microRNAs that regulate B4GALT1 (see all 46):
    hsa-miR-21* hsa-miR-1914* hsa-miR-15a hsa-miR-124 hsa-miR-424 hsa-miR-506 hsa-miR-376c hsa-miR-15b
    SwitchGear 3'UTR luciferase reporter plasmidB4GALT1 3' UTR sequence
    Inhib. RNA
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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for B4GALT1


    (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 B4GALT1 About   (see all 14)                                                                                              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
    3Galactose metabolism
    Galactose metabolism0.46
    Galactose metabolism0.46
    4Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    5MPS IIIC - Sanfilippo syndrome C
    MPS IIIC - Sanfilippo syndrome C0.48
    Mucopolysaccharidoses0.48
    MPS IV - Morquio syndrome A0.48
    MPS IIID - Sanfilippo syndrome D0.48
    MPS IV - Morquio syndrome B0.48
    MPS I - Hurler syndrome0.48
    MPS VI - Maroteaux-Lamy syndrome0.48
    MPS IX - Natowicz syndrome0.48

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for B4GALT1
        Galactose metabolism

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for B4GALT1
        Sperm Motility

    1 GeneGo (Thomson Reuters) Pathway for B4GALT1
        Galactose metabolism


    5/33        Reactome Pathways for B4GALT1 (see all 33)
        Pre-NOTCH Expression and Processing
    Metabolism
    MPS VI - Maroteaux-Lamy syndrome
    Keratan sulfate/keratin metabolism
    Disease


    5/6         Kegg Pathways  (Kegg details for B4GALT1) (see all 6):
        Galactose metabolism
    N-Glycan biosynthesis
    Other types of O-glycan biosynthesis
    Glycosaminoglycan biosynthesis - keratan sulfate
    Glycosphingolipid biosynthesis - lacto and neolacto series

    UniProtKB/Swiss-Prot: B4GT1_HUMAN, P15291
    Pathway: Protein modification; protein glycosylation


    B4GALT1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for B4GALT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/41 Interacting proteins for B4GALT1 (P152912, 3 ENSP000003690554) via UniProtKB, MINT, STRING, and/or I2D (see all 41)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000183311P074373I2D: score=1 
    ENSG00000224156P074373I2D: score=1 
    ENSG00000227739P074373I2D: score=1 
    ENSG00000229684P074373I2D: score=1 
    ENSG00000232421P074373I2D: score=1 
    About this table

    Gene Ontology (GO): 5/34 biological process terms (GO ID links to tree view) (see all 34):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002064epithelial cell development IEA--
    GO:0002526acute inflammatory response IEA--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0005989lactose biosynthetic process IEA--
    GO:0006012galactose metabolic process IEA--

    B4GALT1 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

    B4GALT1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for B4GALT1 (B4GT1)

    7 HMDB Compounds for B4GALT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Alpha-Lactose(+)-lactose (see all 40)63-42-3--
    D-Glucose(+)-Glucose (see all 23)50-99-7--
    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--

    6 DrugBank Compounds for B4GALT1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    N-Acetyl-D-glucosamine2-Acetamido-2-deoxy-D-glucose (see all 4)7512-17-6target--15736931 15449940 16157350 17370997 17203585
    2-(N-Morpholino)-Ethanesulfonic Acid-- --target--17139284 17016423 10592235
    6-Aminohexyl-Uridine-C1,5'-Diphosphate-- --target--17139284 17016423 10592235
    Di(N-Acetyl-D-Glucosamine)-- --target--17139284 17016423 10592235
    Uridine-5'-Monophosphate-- 58-97-9target--17139284 17016423 10592235
    Uridine Diphosphate GalactoseGALACTOSE-URIDINE-5'-DIPHOSPHATE (see all 18)2956-16-3target--12051854 10592235

    3 Novoseek inferred chemical compound relationships for B4GALT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    galactose 72.2 11 9858643 (2), 17370997 (1), 12667057 (1), 19627105 (1) (see all 8)
    udpglucose 71.2 3 12667057 (1), 16157350 (1), 11488931 (1)
    n-acetylglucosamine 67.2 5 12667057 (1), 19261593 (1), 19627105 (1), 16157350 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about B4GALT1 / B4GT1

    (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,
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    About This Section

    REFSEQ mRNAs for B4GALT1 gene: 
    NM_001497.3  

    Unigene Cluster for B4GALT1:

    UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
    Hs.272011  [show with all ESTs]
    Unigene Representative Sequence: NM_001497
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379731(uc003zsg.2) ENST00000535206 ENST00000541851
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    Additional mRNA sequence: 

    AK296928.1 AK297541.1 AK312797.1 AK316294.1 AY864848.1 BC034244.1 BC035442.1 BC045773.1 
    BX648438.1 D29805.1 M13701.1 M22921.1 U10472.1 U10473.1 U10474.1 X13223.1 
    X14085.1 X55415.1 

    19 DOTS entries:

    DT.121173829  DT.95089742  DT.219288  DT.101979287  DT.100815702  DT.100790115  DT.92437322  DT.121173860 
    DT.40211585  DT.40117036  DT.121173861  DT.92031765  DT.87016500  DT.121173823  DT.121173847  DT.121173851 
    DT.91788853  DT.92437309  DT.92437321 

    24/608 AceView cDNA sequences (see all 608):

    AU133137 BU633559 CR605019 CA447483 CR596512 BU609107 AI827408 CB268013 
    BQ639290 BU072057 AU141245 CA418725 AA358194 CA444682 AI206485 BM930878 
    BF431414 BQ691342 CA390750 BM756870 BU619960 BM717770 BP336085 T29439 

    GeneLoc Exon Structure


    (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

    B4GALT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCCAGAGAC
    B4GALT1 Expression
    About this image


    See B4GALT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for B4GALT1

    SOURCE GeneReport for Unigene cluster: Hs.272011

    UniProtKB/Swiss-Prot: B4GT1_HUMAN, P15291
    Tissue specificity: Ubiquitously expressed, but at very low levels in fetal and adult brain

        SABiosciences Expression via Pathway-Focused PCR Array including B4GALT1: 
              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 animals.

    Orthologs for B4GALT1 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia B4galt11 , 5 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, more1, 5 86.65(n)1
    86.9(a)1
      4 (20.46 cM)5
    145951  NM_022305.31  NP_071641.11 
     408046025 
    chicken
    (Gallus gallus)
    Aves B4GALT11 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, more 68.55(n)
    71.19(a)
      396121  NM_205202.1  NP_990533.1 
    lizard
    (Anolis carolinensis)
    Reptilia B4GALT16
    UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase...
    69(a)
    1 ↔ 1
    GL343257.1(176952-240857)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1541161 zgc:154116 63.92(n)
    62.06(a)
      768123  NM_001077259.2  NP_001070727.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta BcDNA:GH133563 beta-N-acetylglucosaminyl-glycopeptide
    beta-1,4-galactosyltransferase
    38(a)
    (best of 2)
      50E6   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y73E7A.73   -- 44(a)
    (best of 2)
      I(1621527-1626606)   --


    ENSEMBL Gene Tree for B4GALT1 (if available)
    TreeFam Gene Tree for B4GALT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for B4GALT1 gene
    B4GALT52  B4GALT22  B4GALT42  B4GALT72  B4GALT62  B4GALT32  
    5 SIMAP similar genes for B4GALT1 using alignment to 3 protein entries:     B4GT1_HUMAN (see all proteins):
    B4GALT2    B4GALT3    B4GALT4    B4GALT5    B4GALT6

    B4GALT1 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

    10/1292 SNPs in B4GALT1 are shown (see all 1292)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1826665631,2
    C--33080245(+) CAACCA/GGCCTG 1 -- ds50010--------
    rs78509481,2
    C,F,H--33080249(+) CAGCCT/CGACCC 1 -- ds50015Minor allele frequency- C:0.02NS EA NA 522
    rs792702301,2
    F--33080375(+) GTGAGC/AACCTG 1 -- ds50011Minor allele frequency- A:0.07NA 120
    rs1879865611,2
    --33080409(+) ATCTGA/CATGAT 1 -- ds50010--------
    rs1132003351,2
    F--33080426(+) ATCTGC/TTGAAA 1 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs1426389731,2
    --33080554(+) TTTTAA/GGCCTC 1 -- ds50010--------
    rs771915201,2
    F--33080597(+) TACAGA/GTAAGA 1 -- ds50011Minor allele frequency- G:0.01NA 120
    rs1509837891,2
    C--33080629(+) ATGTCC/TGATTC 1 -- ds50010--------
    rs798497991,2
    C,F--33080681(+) TGACCC/GTGTCC 1 -- ds50011Minor allele frequency- G:0.16EA 120
    rs1907316181,2
    --33080771(+) TTCACA/GTTATA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for B4GALT1 (33104080 - 33167356 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for B4GALT1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv268223CNV Insertion20981092
    esv1668110CNV Insertion17803354
    esv272933CNV Insertion20981092
    nsv509299CNV Insertion20534489
    nsv6523CNV Loss18451855
    nsv527001CNV Loss19592680
    nsv519369CNV Gain19592680
    nsv893017CNV Gain21882294
    esv259528OTHER Complex20981092
    esv259823OTHER Complex20981092


    Human Gene Mutation Database (HGMD): B4GALT1

    Locus Specific Mutation Databases (LSDB): B4GALT1
    SABiosciences Cancer Mutation PCR Assays
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    (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: 137060   
    OMIM disorders: 607091  
    UniProtKB/Swiss-Prot: B4GT1_HUMAN, P15291
  • Congenital disorder of glycosylation 2D (CDG2D) [MIM:607091]: A multisystem disorder caused by a defect
    in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of
    glycosylation result in a wide variety of clinical features, such as defects in the nervous system development,
    psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad
    spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation,
    and maintenance of cell functions. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 13 diseases for B4GALT1:    About MalaCards
    congenital disorder of glycosylation type 2d    congenital disorder of glycosylation    progeria    morquio syndrome b
    teratocarcinoma    hypotonia    osteoarthritis    rheumatoid arthritis
    arthritis    endotheliitis    lung cancer    alzheimer's disease
    breast cancer


    B4GALT1 for disorders           About GeneDecksing

    GeneTests: B4GALT1
    GeneReviews: B4GALT1
    Genetic Association Database (GAD): B4GALT1
    Human Genome Epidemiology (HuGE) Navigator: B4GALT1 (2 documents)

    Export disorders for B4GALT1 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 B4GALT1 gene, integrated from 9 sources (see all 95):
    (articles sorted by number of sources associating them with B4GALT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Oligosaccharide preferences of beta1,4-galactosyltransferase-I: crystal structures of Met340His mutant of human beta1,4-galactosyltransferase-I with a pentasaccharide and trisaccharides of the N-glycan moiety. (PubMed id 16157350)1, 7, 9 Ramasamy V....Qasba P.K. (2005)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PubMed id 19204726)1, 4 Chapuis J....Lambert J.C. (2009)
    4. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    5. Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions. (PubMed id 10580128)1, 2 Amado M.... Clausen H. (1999)
    6. The expanding beta 4-galactosyltransferase gene family: messages from the databanks. (PubMed id 9597550)1, 3 Lo N.-W.... Shaper N.L. (1998)
    7. Golgi retention mechanism of beta-1,4-galactosyltransferase. Membrane-spanning domain-dependent homodimerization and association with alpha- and beta-tubulins. (PubMed id 7744867)1, 2 Yamaguchi N. and Fukuda M.N. (1995)
    8. The beta 1, 4-galactosyltransferase gene is post-transcriptionally regulated during differentiation of mouse F9 teratocarcinoma cells. (PubMed id 7579794)1, 2 Kudo T. and Narimatsu H. (1995)
    9. Analysis of the sequences of human beta-1,4-galactosyltransferase cDNA clones. (PubMed id 7540104)1, 2 Chatterjee S.K.... Tripathi P.K. (1995)
    10. Complementary DNA cloning for galactosyltransferase associated with tumor and determination of antigenic epitopes recognized by specific monoclonal antibodies. (PubMed id 1384956)1, 2 Uejima T.... Narimatsu H. (1992)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2683 HGNC: 924 AceView: B4GALT1andSMU1andLOC401500 Ensembl:ENSG00000086062 euGenes: HUgn2683
    ECgene: B4GALT1 Kegg: 2683 H-InvDB: B4GALT1

    (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 B4GALT1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/B4GALT1
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_436

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for B4GALT1 gene:
    Search GeneIP for patents involving B4GALT1

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



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    About This Section

     
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