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: 52
GCID: GC13P031774

beta 1,3-galactosyltransferase-like

 Explore 6 diseases affiliated with
B3GALTL via our new
 Human Malady Compendium 
Biological research products
for B3GALTL
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Beta 1,3-Galactosyltransferase-Like1 2     Beta-3-Glycosyltransferase-Like1
B3GTL1 2 3 5     Beta3Glc-T3
B3Glc-T1 2     UDP-GAL:Beta-GlcNAc Beta-1,3-Galactosyltransferase-Like2
B3GLCT2 5     Beta-3-Glycosyltransferase-Like1
Gal-T2     Beta3Glc-T3
Beta 3-Glycosyltransferase-Like2     EC 2.4.1.-3
Beta-1,3-Glucosyltransferase1     

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:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NC_018924.1  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6Y288

  • B3GALTL Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_919299.3  
    ENSEMBL proteins: 
     ENSP00000343002  

    Human Recombinant Protein Products: 
    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: B3GALTL
    OriGene Protein Over-expression Lysate: B3GALTL
    OriGene Custom Protein Services for B3GALTL 
    GenScript Custom Purified and Recombinant Proteins Services for B3GALTL
    Novus Biologicals B3GALTL Protein
    Novus Biologicals B3GALTL Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    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
    Search for Antibodies for B3GALTL at Abcam  
    Browse Antibodies at Uscn
    ThermoFisher Antibodies for B3GALTL

    Assay Products for B3GALTL: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for B3GALTL
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    B3GALTL for domains           About GeneDecksing

    1 InterPro domain/family:
     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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

    Enzyme Number (IUBMB): EC 2.4.1.-1

    miRNA
    Products:
        
    OriGene 3'-UTR Clone: B3GALTL
    Browse MicroRNA Expression Plasmids
    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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for B3GALTL (see all 4)
    OriGene shRNA RFP: B3GALTL
    OriGene siRNA: B3GALTL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat B3GALTL

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for B3GALTL

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for B3GALTL (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, 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)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for B3GALTL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat 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

    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



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Glucuronidation
    Other types of O-glycan biosynthesis0.36

    Pathway sources
    See GeneCards unified pathways
    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, 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
    4 Novoseek 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 235 Homo sapiens; Mar 10 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,
    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, 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:
         
    OriGene 3'-UTR Clone: B3GALTL
    Browse OriGene MicroRNA Expression Plasmids
    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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for B3GALTL (see all 4)
    OriGene shRNA RFP: B3GALTL
    OriGene siRNA: B3GALTL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat B3GALTL
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for B3GALTL (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, 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 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for B3GALTL
    Browse OriGene validated miRNA SYBR primer pairs
    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 cDNA sequence: 

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

    7 DOTS entries:

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

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

    AV728071 AA769548 F12364 AY190526 CB131854 AA453784 AA463848 BX478032 
    AB101481 BM847533 AA947758 BQ888580 BC068595 BC031597 BG771829 BC032021 
    T73983 BF033976 AA309656 BI491364 AI383357 BV207620 AA495968 BI460175 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    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 genome-wide validated SYBR primer pairs in human, mouse, rat for B3GALTL
    Browse OriGene validated miRNA SYBR primer pairs
    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 6/18 species (see all 18)    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
    --
    78(a)
    1 ↔ 1
    3(184180383-184260638)
    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, UniProtKB, 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

    10/2241 NCBI SNPs in B3GALTL are shown (see all 2241    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,Fpathogenic12654777(+) ATGAGG/ATATGT 1 -- spd12Minor allele frequency- A:0.00NA EU 5733
    rs1128410061,2
    --12583654(+) CTTTGC/TAATGT 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs749532211,2
    F,--12584345(+) CTAAAC/TGCATT 1 -- us2k11Minor allele frequency- T:0.09WA 118
    rs596856031,2
    C,--12587131(+) GTATTC/ATATTT 1 -- int12Minor allele frequency- A:0.07WA 120
    rs1126256941,2
    --12587210(+) CTGAAG/ATGCAC 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs116202571,2
    C,H,--12588091(+) CAGCAG/ACACTG 1 -- int12Minor allele frequency- A:0.12NA 122
    rs731728301,2
    C,F,--12588188(+) TAAAGC/ATCATT 1 -- int16Minor allele frequency- A:0.21WA NA CSA 245
    rs775311021,2
    --12588919(+) GGAGAG/ACATCT 1 -- int12Minor allele frequency- A:0.06CSA WA 120
    rs564137011,2
    C--12589268(+) GTTGTA/GAGTTT 1 -- int10--------
    rs763990701,2
    --12589345(+) AAGCAA/CCTCCC 1 -- int11Minor allele frequency- C:0.01WA 118

    HapMap Linkage Disequilibrium report for B3GALTL (31774073 - 31906413 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for B3GALTL
         2 CNVs: 8752 5703
    Human Gene Mutation Database (HGMD): B3GALTL

    Locus Specific Mutation Databases (LSDB): B3GALTL

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    B3GALTL for disorders           About GeneDecksing

    OMIM gene information: 610308   
    OMIM disorders: 261540  
    UniProtKB/Swiss-Prot: B3GLT_HUMAN, Q6Y288
  • Defects in B3GALTL are the cause of Peters-plus syndrome (PpS) [MIM:261540]. PpS is an autosomal recessive
  • disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, developmental delay,
    characteristic craniofacial features, cleft lip and/or palate

    6 diseases for B3GALTL:    About MalaCards
    peters plus syndrome    hypoplastic left heart syndrome    peters anomaly    short stature
    congenital disorder of glycosylation    malaria

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

    1 Novoseek 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
    Peters Plus Syndrome

    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 34):
    (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. 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)
    4. 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)
    5. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. 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)
    8. 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)
    9. Vertebral defects in patients with Peters plus syndro me and mutations in B3GALTL. (PubMed id 21671750)1 Faletra F....Gasparini P. (2011)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)

    (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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    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 Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for B3GALTL  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for B3GALTL   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for B3GALTL  
     OriGene Protein Over-expression Lysate for B3GALTL   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for B3GALTL   OriGene 3'-UTR Clone for B3GALTL  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for B3GALTL   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for B3GALTL  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein 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  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat B3GALTL
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     B3GALTL antibodies
     B3GALTL proteins
     B3GALTL lysates
     Search for Antibodies for B3GALTL at Abcam
     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 ELISAs, CLIAs, Proteins, and Antibodies at Uscn
     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
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    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: 100 solr: 1.4