Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

B3GALTL Gene

protein-coding   GIFtS: 56
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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 hypoplastic left heart syndrome, and peters anomaly. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NC_018924.2  NT_024524.14  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for B3GALTL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: B3GLT_HUMAN, Q6Y288 (See protein sequence)
Recommended Name: Beta-1,3-glucosyltransferase  
Size: 498 amino acids; 56564 Da
Subcellular location: Endoplasmic reticulum membrane; Single-pass type II membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6Y288

  • B3GALTL Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    B3GALTL Protein Expression
    REFSEQ proteins: NP_919299.3  
    ENSEMBL proteins: 
     ENSP00000343002  

    Human Recombinant Protein Products for B3GALTL: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for B3GALTL
    OriGene Protein Over-expression Lysate for B3GALTL
    OriGene MassSpec for B3GALTL 
    OriGene Custom Protein Services for B3GALTL
    GenScript Custom Purified and Recombinant Proteins Services for B3GALTL
    Novus Biologicals B3GALTL Protein
    Novus Biologicals B3GALTL Lysates
    Sino Biological Recombinant Protein for B3GALTL
    Sino Biological Cell Lysate for B3GALTL 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    B3GALTL for ontologies           About GeneDecksing



    B3GALTL Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for B3GALTL
    GenScript Custom Superior Antibodies Services for B3GALTL
    Novus Biologicals B3GALTL Antibodies
    Abcam antibodies for B3GALTL
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibodies for B3GALTL
    LSBio Antibodies in human, mouse, rat for B3GALTL 

    Assay Products for B3GALTL: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for B3GALTL
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for B3GALTL
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    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: 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 (GO ID links to tree view):    About this table

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


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for B3GALTL 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for B3GALTL

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for B3GALTL 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for B3GALTL 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat B3GALTL
    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate B3GALTL (see all 17):
    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
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for B3GALTL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat B3GALTL

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for B3GALTL
    Sirion Biotech Customized adenovirus for overexpression of B3GALTL

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for B3GALTL (see all 7)
    OriGene ORF clones in mouse, rat for B3GALTL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: B3GALTL (NM_194318)
    Sino Biological Human cDNA Clone for B3GALTL
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for B3GALTL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat B3GALTL
    Sirion Biotech Customized lentivirus for stable overexpression of B3GALTL 
                         Customized lentivirus expression plasmids for stable overexpression of B3GALTL 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for B3GALTL
    Search LifeMap BioReagents cell lines for B3GALTL
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for B3GALTL


    (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 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         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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 (GO ID links to tree view):    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 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

    B3GALTL for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about B3GALTL / B3GLT

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 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
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat B3GALTL
    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate B3GALTL (see all 17):
    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
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for B3GALTL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat B3GALTL
    Clone
    Products:
         
    OriGene clones in human, mouse for B3GALTL (see all 7)
    OriGene ORF clones in mouse, rat for B3GALTL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: B3GALTL (NM_194318)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for B3GALTL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat B3GALTL
    Sirion Biotech Customized lentivirus for stable overexpression of B3GALTL 
                         Customized lentivirus expression plasmids for stable overexpression of B3GALTL 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for B3GALTL
    OriGene qSTAR qPCR primer pairs in human, mouse for B3GALTL
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat B3GALTL
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat B3GALTL
      QIAGEN 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 

    24/88 AceView cDNA sequences (see all 88):

    CB131854 AA453784 BX478032 AA463848 AV728071 AA769548 F12364 AY190526 
    BM845174 Z44619 BX505413 AV685727 BI771506 BX647932 NM_194318 BI829955 
    BM717705 AK094979 BC047395 AA007188 BQ185588 AA463335 Z44084 AW073386 

    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™, 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

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


    B3GALTL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/33 selected tissues (see all 33) fully expand
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Epithelium (Reproductive System)    fully expand to see all 5 entries
             vagina ; squamous epithelial cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             seminal vesicle ; glandular cells   

    See B3GALTL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for B3GALTL

    SOURCE GeneReport for Unigene cluster: Hs.13205

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

        SABiosciences Expression via Pathway-Focused PCR Array including B3GALTL: 
              Glycosylation in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for B3GALTL
    OriGene qSTAR qPCR primer pairs in human, mouse for B3GALTL
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat B3GALTL
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat B3GALTL
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat B3GALTL
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for B3GALTL

    (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 B3GALTL gene from 6/14 species (see all 14)    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 82.28(n)1
    84.66(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 74.2(n)
    75.52(a)
      428075  XM_425633.3  XP_425633.3 
    lizard
    (Anolis carolinensis)
    Reptilia B3GALTL6
    Uncharacterized protein
    64(a)
    1 ↔ 1
    3(184177650-184299367)
    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 48.68(n)
    41.34(a)
      33844  NM_135138.3  NP_608982.2 
    worm
    (Caenorhabditis elegans)
    Secernentea ZC250.21 Protein ZC250.2 50.31(n)
    41.29(a)
      178968  NM_072119.1  NP_504520.1 


    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)
    About This Section
      --

    (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

    10/2674 SNPs in B3GALTL are shown (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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing B3GALTL
    DNA2.0 Custom Variant and Variant Library Synthesis for B3GALTL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 5 diseases for B3GALTL:    About MalaCards
    hypoplastic left heart syndrome    peters anomaly    congenital disorder of glycosylation    short stature
    cleft lip

    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)
    About This Section

    PubMed articles for B3GALTL gene, integrated from 9 sources (see all 39):
    (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. (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. (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. (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. (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. (2006)
    6. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2004)
    9. Seven new loci associated with age-related macular deg eneration. (PubMed id 23455636)1 Fritsche L.G....Abecasis G.R. (2013)
    10. Two Tunisian patients with Peters plus syndrome harbou ring a novel splice site mutation in the B3GALTL gene that modulates the mRNA se condary structure. (PubMed id 22759511)1 Siala O....Fakhfakh F. (2012)

    (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: 145173 HGNC: 20207 AceView: B3GTL Ensembl:ENSG00000187676 euGenes: HUgn145173
    ECgene: B3GALTL Kegg: 145173 H-InvDB: B3GALTL

    (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 B3GALTL Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/B3GALTL

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for B3GALTL  
     OriGene qPCR primer pairs and template standards for B3GALTL   OriGene Protein Over-expression Lysate for B3GALTL  
     OriGene MassSpec something-or-other for B3GALTL   OriGene clones in human, mouse for B3GALTL  
     OriGene qSTAR qPCR primer pairs in human, mouse for B3GALTL   OriGene Purified Protein for B3GALTL  
     OriGene ORF clones in mouse, rat for B3GALTL   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for B3GALTL   OriGene Custom Protein Services for B3GALTL  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat B3GALTL
     QIAGEN SeqTarget long-range PCR primers for resequencing B3GALTL
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat B3GALTL
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat B3GALTL
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat B3GALTL
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat B3GALTL
     GenScript Custom Purified and Recombinant Proteins Services for B3GALTL GenScript cDNA clones with any tag delivered in your preferred vector for B3GALTL
     GenScript Custom Assay Services for B3GALTL GenScript Custom Superior Antibodies Services for B3GALTL
     GenScript Custom overexpressing Cell Line Services for B3GALTL CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in B3GALTL promoter
     Search Chromatin IP Primers for B3GALTL
     RT2 qPCR Primer Assay in human, mouse, rat B3GALTL
     Search GNC Networks for B3GALTL
     SABiosciences PCR Arrays including human, mouse, rat B3GALTL
     Search Tocris compounds for B3GALTL (B3GLT)
     Proteins and Antibodies for B3GALTL
     Cell Lysates for B3GALTL
     cDNA Clones for B3GALTL
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     B3GALTL antibodies
     B3GALTL proteins
     B3GALTL lysates
     Antibodies for B3GALTL
     See all of Abcam's Antibodies, Kits and Proteins for B3GALTL
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.
     Search LifeMap BioReagents cell lines for B3GALTL
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for B3GALTL
     SwitchGear 3'UTR luciferase reporter plasmids for B3GALTL
     Browse SwitchGear Promoter luciferase reporter plasmids for B3GALTL
     ThermoFisher Antibodies for B3GALTL
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat B3GALTL
     inGenious Targeting Laboratory - Custom generated mouse model solutions for B3GALTL
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for B3GALTL
    Customized:
     lentivirus for stable overexpression of B3GALTL
     lentivirus expression plasmids for stable overexpression of B3GALTL
     adenovirus for overexpression of B3GALTL
     LSBio Antibodies in human, mouse, rat for B3GALTL
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      B3GALTL gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4