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B3GALTL Gene

protein-coding   GIFtS: 55
GCID: GC13P031774

Beta 1,3-Galactosyltransferase-Like

  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
Beta 1,3-Galactosyltransferase-Like1 2     beta-3-glycosyltransferase-like2
B3GTL2 3 5     beta3Glc-T2
B3GLCT2 5     UDP-GAL:Beta-GlcNAc Beta-1,3-Galactosyltransferase-Like2
B3Glc-T2     Beta-3-glycosyltransferase-like3
Gal-T2     Beta3Glc-T3
Beta 3-Glycosyltransferase-Like2     EC 2.4.1.-3
beta-1,3-glucosyltransferase2     

External Ids:    HGNC: 202071   Entrez Gene: 1451732   Ensembl: ENSG000001876767   OMIM: 6103085   UniProtKB: Q6Y2883   

Export aliases for B3GALTL gene to outside databases

Previous GC identifers: GC13P030674 GC13P012600


(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 B3GALTL Gene:
The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked
fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II
membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).(provided by RefSeq, Mar 2009)

GeneCards Summary for B3GALTL Gene:
B3GALTL (beta 1,3-galactosyltransferase-like) is a protein-coding gene. Diseases associated with B3GALTL include peters plus syndrome, and hypoplastic left heart syndrome. GO annotations related to this gene include transferase activity, transferring glycosyl groups.

UniProtKB/Swiss-Prot: B3GLT_HUMAN, Q6Y288
Function: O-fucosyltransferase that transfers glucose toward fucose with a beta-1,3 linkage. Specifically
glucosylates O-linked fucosylglycan on TSP type-1 domains of proteins, thereby contributing to elongation of
O-fucosylglycan

Gene Wiki entry for B3GALTL 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000013.11  NT_024524.15  NC_018924.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the B3GALTL gene promoter:
         Nkx3-1   Nkx3-1 v1   FOXL1   Meis-1b   GATA-1   Nkx3-1 v2   FOXC1   Nkx3-1 v3   Meis-1a   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for B3GALTL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat B3GALTL


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

Entrez Gene cytogenetic band: 13q12.3   Ensembl cytogenetic band:  13q12.3   HGNC cytogenetic band: 13q12.3

B3GALTL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B3GALTL gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P031774:  view genomic region     (about GC identifiers)

Start:
31,774,073 bp from pter      End:
31,906,413 bp from pter
Size:
132,341 bases      Orientation:
plus 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: B3GLT_HUMAN, Q6Y288 (See protein sequence)
Recommended Name: Beta-1,3-glucosyltransferase  
Size: 498 amino acids; 56564 Da
Secondary accessions: A8K5F8 Q5W0H2 Q6NUI3

Explore the universe of human proteins at neXtProt for B3GALTL: NX_Q6Y288

Explore proteomics data for B3GALTL at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn336

  • See B3GALTL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_919299.3  
    ENSEMBL proteins: 
     ENSP00000343002  
    Reactome Protein details: Q6Y288

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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:
    B3GT: Beta 3-glycosyltransferases

    1 InterPro protein domain:
     IPR003378 Fringe-like

    Graphical View of Domain Structure for InterPro Entry Q6Y288

    ProtoNet protein and cluster: Q6Y288

    UniProtKB/Swiss-Prot: B3GLT_HUMAN, Q6Y288
    Similarity: Belongs to the glycosyltransferase 31 family


    B3GALTL 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: B3GLT_HUMAN, Q6Y288
    Function: O-fucosyltransferase that transfers glucose toward fucose with a beta-1,3 linkage. Specifically
    glucosylates O-linked fucosylglycan on TSP type-1 domains of proteins, thereby contributing to elongation of
    O-fucosylglycan

         Enzyme Number (IUBMB): EC 2.4.1.-1

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016757transferase activity, transferring glycosyl groups IEA--
         
    B3GALTL for ontologies           About GeneDecksing


    Animal Models:
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    hsa-miR-548a-3p hsa-miR-183* hsa-miR-124 hsa-miR-29a* hsa-miR-506 hsa-miR-3143 hsa-miR-4324 hsa-miR-569
    SwitchGear 3'UTR luciferase reporter plasmidB3GALTL 3' UTR sequence
    Inhib. RNA
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    (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
    B3GLT_HUMAN, Q6Y288: Endoplasmic reticulum membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    extracellular2
    cytosol1
    golgi apparatus1
    lysosome1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    B3GALTL 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 B3GALTL About    
    See pathways by source

    SuperPathContained pathways About
    1Other types of O-glycan biosynthesis
    Other types of O-glycan biosynthesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for B3GALTL
        O-glycosylation of TSR domain-containing proteins


    1 Kegg Pathway  (Kegg details for B3GALTL):
        Other types of O-glycan biosynthesis

    UniProtKB/Swiss-Prot: B3GLT_HUMAN, Q6Y288
    Pathway: Protein modification; protein glycosylation


    B3GALTL for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including B3GALTL: 

              Glycosylation in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for B3GALTL

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for B3GALTL (ENSP000003430024) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006004fucose metabolic process IEA--
    GO:0006486protein glycosylation IEA--

    B3GALTL 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 B3GALTL (B3GLT)

    4 Novoseek inferred chemical compound relationships for B3GALTL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nocodazole 56.6 2 7690043 (1), 1912946 (1)
    monensin 55.7 6 7690043 (3), 17021253 (3)
    n-acetylglucosamine 48.2 2 8444150 (2)
    polysaccharide 22.1 1 11133014 (1)



    B3GALTL 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 B3GALTL gene: 
    NM_194318.3  

    Unigene Cluster for B3GALTL:

    Beta 1,3-galactosyltransferase-like
    Hs.13205  [show with all ESTs]
    Unigene Representative Sequence: NM_194318
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000343307(uc010aaz.3 uc001utn.4 uc001uto.4) ENST00000461652

    miRNA
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    hsa-miR-548a-3p hsa-miR-183* hsa-miR-124 hsa-miR-29a* hsa-miR-506 hsa-miR-3143 hsa-miR-4324 hsa-miR-569
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      QuantiFast Probe-based Assays in human, mouse, rat B3GALTL

    Additional mRNA sequence: 

    AB101481.1 AK094979.1 AK291273.1 AY190526.1 BC031597.1 BC032021.1 BC047395.1 BC068595.1 
    BX647932.1 

    8 DOTS entries:

    DT.99928216  DT.454886  DT.100776329  DT.95256020  DT.102836067  DT.91917146  DT.92416150  DT.95378561 

    Selected AceView cDNA sequences (see all 88):

    F12364 AY190526 CB131854 AA453784 BX478032 AA463848 AV728071 AA769548 
    T73983 AA309656 AI383357 BI491364 BV207620 AA495968 BI460175 AA937150 
    BM845174 Z44619 BX505413 AV685727 BI771506 BX647932 NM_194318 BI829955 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for B3GALTL    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21
    SP1:                                      -                             -     -           -     -           -     -                           
    SP2:                                                                    -                                                                     
    SP3:                                                                                      -     -           -     -                           


    ECgene alternative splicing isoforms for B3GALTL

    (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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    B3GALTL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    B3GALTL Expression
    About this image

    B3GALTL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    B3GALTL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.13205

    UniProtKB/Swiss-Prot: B3GLT_HUMAN, Q6Y288
    Tissue specificity: Widely expressed, with highest levels in testis and uterus

        Pathway & Disease-focused RT2 Profiler PCR Array including B3GALTL: 
              Glycosylation in human mouse rat

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    In Situ
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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 B3GALTL gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia B3galtl1 , 5 beta 1,3-galactosyltransferase-like1, 5 82.34(n)1
    84.87(a)1
      5 (89.18 cM)5
    3816941  NM_001081204.11  NP_001074673.11 
     1496782305 
    chicken
    (Gallus gallus)
    Aves B3GALTL1 beta 1,3-galactosyltransferase-like 74.7(n)
    76.1(a)
      428075  XM_004938762.1  XP_004938819.1 
    lizard
    (Anolis carolinensis)
    Reptilia B3GALTL6
    beta 1,3-galactosyltransferase-like
    64(a)
    1 ↔ 1
    3(184177650-184299367)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia b3galtl1 beta 1,3-galactosyltransferase-like 66.11(n)
    65.83(a)
      780006  NM_001079083.1  NP_001072551.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.206402 Transcribed sequence with weak similarity to protein more 80.26(n)    BG304265.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG91091 CG9109 48.08(n)
    40.05(a)
      33844  NM_135138.3  NP_608982.2 
    worm
    (Caenorhabditis elegans)
    Secernentea ZC250.21 ZC250.2 48.24(n)
    37.47(a)
      178968  NM_072119.2  NP_504520.2 


    ENSEMBL Gene Tree for B3GALTL (if available)
    TreeFam Gene Tree for B3GALTL (if available)

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

    (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 B3GALTL (see all 2674)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs803388511,2
    C,Fpathogenic112654777(+) ATGAGG/ATATGT 1 -- spd12Minor allele frequency- A:0.00NA EU 5733
    rs49432661,2
    C,F,Huntested112633348(+) GTCAGC/TTTTTC 2 H syn123Minor allele frequency- T:0.03NA NS EA WA CSA EU 6298
    rs2818654621,2
    Cuntested112654690(+) AAAAA-/ATCAAA 1 -- int10--------
    rs2818654631,2
    Cuntested112662171(+) ACATA-/CATA  
            
    TGCAT
    1 -- int10--------
    rs10410741,2
    C,A,Huntested112702955(-) ttataG/Aaataa 1 -- int113Minor allele frequency- A:0.00NA WA CSA EA 377
    rs1128410061,2
    F--12583654(+) CTTTGC/TAATGT 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1469010191,2
    --12583719(+) TTAAAC/TGGTGT 1 -- us2k10--------
    rs95989931,2
    C,F,A,H--12583778(+) ATAGTA/GATACT 1 -- us2k120Minor allele frequency- G:0.47NS EA WA NA CSA 2234
    rs1840895421,2
    C--12583894(+) ACAGTG/TTGGTT 1 -- us2k10--------
    rs1513145301,2
    --12583922(+) CATATC/GCAAGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for B3GALTL (31774073 - 31906413 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for B3GALTL:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1007096CNV Deletion20482838
    esv273721CNV Insertion20981092
    esv270309CNV Insertion20981092
    nsv899963CNV Loss21882294
    nsv899964CNV Loss21882294
    nsv64080CNV Loss16902084
    nsv899966CNV Gain21882294
    esv2751142CNV Gain17911159
    nsv528568CNV Gain19592680
    nsv899965CNV Gain21882294

    Human Gene Mutation Database (HGMD): B3GALTL
    Locus Specific Mutation Databases (LSDB): B3GALTL

    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610308   
    OMIM disorders: 261540  
    UniProtKB/Swiss-Prot: B3GLT_HUMAN, Q6Y288
  • Peters-plus syndrome (PpS) [MIM:261540]: Autosomal recessive disorder characterized by anterior
    eye-chamber abnormalities, disproportionate short stature, developmental delay, characteristic craniofacial
    features, cleft lip and/or palate. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 14 diseases for B3GALTL:    
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    peters plus syndrome    hypoplastic left heart syndrome    congenital disorder of glycosylation    short stature
    cleft lip    age related macular degeneration    tonsillitis    multiple myeloma
    thyroiditis    myeloma    cerebritis    malaria
    endotheliitis    prostatitis

    2 diseases from the University of Copenhagen DISEASES database for B3GALTL:
    Cleft lip     Congenital disorder of glycosylation

    B3GALTL for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for B3GALTL gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 2 1384956 (1), 15161001 (1)

    GeneTests: B3GALTL
    GeneReviews: B3GALTL
    Genetic Association Database (GAD): B3GALTL
    Human Genome Epidemiology (HuGE) Navigator: B3GALTL (1 document)

    Export disorders for B3GALTL 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 B3GALTL gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with B3GALTL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of a novel human beta1,3- glucosyltransferase, which is localized at the endoplasmic reticulum and glucosylates O-linked fucosylglycan on thrombospondin type 1 repeat domain. (PubMed id 16899492)1, 2, 3 Sato T.... Narimatsu H. (Glycobiology 2006)
    2. A novel human glycosyltransferase: primary structure and characterization of the gene and transcripts. (PubMed id 12943678)1, 2, 3 Heinonen T.Y.K.... Kainulainen H. (Biochem. Biophys. Res. Commun. 2003)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Peters plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. (PubMed id 16909395)1, 2 Lesnik Oberstein S.A.... Hennekam R.C.M. (Am. J. Hum. Genet. 2006)
    5. Identification and characterization of abeta1,3-glucosyltransferase that synthesizes the Glc-beta1,3-Fuc disaccharide on thrombospondin type 1 repeats. (PubMed id 17032646)1, 3 Kozma K....Hofsteenge J. (J. Biol. Chem. 2006)
    6. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (Nature 2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. 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)
    9. Seven new loci associated with age-related macular degeneration. (PubMed id 23455636)1 Fritsche L.G....Abecasis G.R. (Nat. Genet. 2013)
    10. First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome. (PubMed id 23954224)1 Ben Mahmoud A....Fakhfakh F. (Gene 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 145173 HGNC: 20207 AceView: B3GTL Ensembl:ENSG00000187676 euGenes: HUgn145173
    ECgene: B3GALTL Kegg: 145173 H-InvDB: B3GALTL

    (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 B3GALTL Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B3GALTL
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=B3GALTL[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for B3GALTL gene:
    Search GeneIP for patents involving B3GALTL

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



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