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

B3GNTL1 Gene

protein-coding   GIFtS: 48
GCID: GC17M080901

UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase-Like...

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase-Like 11 2     beta3Gn-T82
Beta-1,3-N-Acetylglucosaminyltransferase 82 3     beta3GnTL12
Beta1,3-N-Acetylglucosaminyltransferase-Like Protein 12 3     UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 82
Beta3Gn-T-Like Protein 12 3     UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase-Like Protein 12
B3GNT82 3     Beta-1,3-Gn-T83
BGnT-82 3     Beta3Gn-T83
BGnT-Like Protein 12 3     Beta3GnTL13
beta-1,3-Gn-T82     EC 2.4.1.-3

External Ids:    HGNC: 217271   Entrez Gene: 1467122   Ensembl: ENSG000001757117   OMIM: 6153375   UniProtKB: Q67FW53   

Export aliases for B3GNTL1 gene to outside databases

Previous GC identifers: GC17M081580 GC17U900469 GC17M078495 GC17M076304


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

GeneCards Summary for B3GNTL1 Gene: 
B3GNTL1 (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1) is a protein-coding gene. Diseases associated with B3GNTL1 include prostatitis, and among its related super-pathways are Post-translational protein modification and Mucin type O-Glycan biosynthesis. GO annotations related to this gene include transferase activity, transferring glycosyl groups.

UniProtKB/Swiss-Prot: B3GNL_HUMAN, Q67FW5
Function: Putative glycosyltransferase (Potential)




(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_000017.10  NT_010663.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the B3GNTL1 gene promoter:
         SRF   SRF (504 AA)   HSF1 (long)   CUTL1   Max   POU2F1   POU2F1a   HSF1short   CBF(2)   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidB3GNTL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for B3GNTL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat B3GNTL1


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

Entrez Gene cytogenetic band: 17q25.3   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25.3

B3GNTL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B3GNTL1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M080901:  view genomic region     (about GC identifiers)

Start:
80,900,031 bp from pter      End:
81,009,686 bp from pter
Size:
109,656 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: B3GNL_HUMAN, Q67FW5 (See protein sequence)
Recommended Name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1  
Size: 361 amino acids; 40713 Da
Secondary accessions: Q6GV30 Q8WUT3

Explore the universe of human proteins at neXtProt for B3GNTL1: NX_Q67FW5

Explore proteomics data for B3GNTL1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q67FW5

  • B3GNTL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    B3GNTL1 Protein Expression
    REFSEQ proteins: NP_001009905.1  
    ENSEMBL proteins: 
     ENSP00000459327   ENSP00000461127   ENSP00000319979   ENSP00000458682  
    Reactome Protein details: Q67FW5
    Human Recombinant Protein Products for B3GNTL1: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    GLT2: Glycosyltransferase family 2 domain containing

    1 InterPro protein domain:
     IPR001173 Glyco_trans_2

    Graphical View of Domain Structure for InterPro Entry Q67FW5

    ProtoNet protein and cluster: Q67FW5

    1 Blocks protein domain: IPB001173 Glycosyl transferase

    UniProtKB/Swiss-Prot: B3GNL_HUMAN, Q67FW5
    Similarity: Belongs to the glycosyltransferase 2 family


    B3GNTL1 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: B3GNL_HUMAN, Q67FW5
    Function: Putative glycosyltransferase (Potential)

         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--
         
    B3GNTL1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for B3GNTL1:
     Decreased TP53 protein express  Decreased viability of wild-ty 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for B3GNTL1 
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    (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 B3GNTL1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Asparagine N-linked glycosylation
    Post-translational protein modification0.44
    Metabolism of proteins0.35
    2O-linked glycosylation of mucins
    O-linked glycosylation of mucins0.44

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3        Reactome Pathways for B3GNTL1
        O-linked glycosylation of mucins
    Metabolism of proteins
    Post-translational protein modification



    B3GNTL1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for B3GNTL1

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

    2 Interacting proteins for B3GNTL1 (Q67FW52, 3 ENSP000003199794) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MPP3Q133682, 3MINT-64790 I2D: score=4 
    DLG3ENSP000003634804STRING: ENSP00000363480
    About this table

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

    Browse Tocris compounds for B3GNTL1 (B3GNL)

    Search CenterWatch for drugs/clinical trials and news about B3GNTL1 / B3GNL

    (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 B3GNTL1 gene: 
    NM_001009905.1  

    Unigene Cluster for B3GNTL1:

    UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1
    Hs.607824  [show with all ESTs]
    Unigene Representative Sequence: AK126018
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000572977(uc002kge.1) ENST00000572267 ENST00000573363 ENST00000570947
    ENST00000576599(uc002kgf.1) ENST00000320865(uc002kgg.1) ENST00000571301
    ENST00000571394 ENST00000571954 ENST00000573629 ENST00000571218
    miRNA
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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat B3GNTL1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat B3GNTL1

    Additional mRNA sequence: 

    AK054757.1 AK126018.1 AY304503.1 AY634364.1 BC019623.1 BC035891.1 BC041588.1 BC065543.1 
    BC110528.1 BC110529.1 U79265.1 

    11 DOTS entries:

    DT.312051  DT.312050  DT.97776858  DT.101962460  DT.100673985  DT.307665  DT.100010112  DT.108355 
    DT.108354  DT.100711913  DT.97790524 

    24/114 AceView cDNA sequences (see all 114):

    BU623325 BU849242 Z41581 U79265 F13312 BC019623 F04786 BU931205 
    AA845994 AA428168 AA621585 AK054757 AW166378 BM542160 AA338914 BU845472 
    AY634364 BQ632090 AI091322 AI904378 CF529472 BM976676 BI020674 BM709913 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    B3GNTL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGCCAAGGC
    B3GNTL1 Expression
    About this image


    See B3GNTL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for B3GNTL1

    SOURCE GeneReport for Unigene cluster: Hs.607824

    UniProtKB/Swiss-Prot: B3GNL_HUMAN, Q67FW5
    Tissue specificity: Widely expressed. Highly expressed in adult pancreas. Expressed at moderate level in kidney,
    spleen, thymus, prostate, testis and ovary. Weakly expressed in small intestine, colon, peripheral blood
    leukocyte and liver

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for B3GNTL1 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia B3gntl11 , 5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like more1, 5 82.46(n)1
    85.76(a)1
      11 (86.14 cM)5
    2100041  NM_178664.51  NP_848779.21 
     1216161975 
    chicken
    (Gallus gallus)
    Aves B3GNTL11 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like more 69.21(n)
    73.61(a)
      417333  XM_415599.3  XP_415599.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    65(a)
    62(a)
    many → 1
    many → 1
    GL343248.1(651085-651717)
    2(108004659-108225369)
    zebrafish
    (Danio rerio)
    Actinopterygii b3gntl11 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like more 65.19(n)
    66.27(a)
      619261  NM_001033742.1  NP_001028914.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F13G3.61 Protein F13G3.6 48.25(n)
    42.4(a)
      184431  NM_059664.2  NP_492065.2 


    ENSEMBL Gene Tree for B3GNTL1 (if available)
    TreeFam Gene Tree for B3GNTL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for B3GNTL1 gene

    B3GNTL1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for B3GNTL1
    PGOHUM00000235584 PGOHUM00000243634 PGOHUM00000241506


    (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

    10/3628 SNPs in B3GNTL1 are shown (see all 3628)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1480044171,2
    Cuntested180919054(+) CGGGAC/TGCCCT 2 I V mis11Minor allele frequency- T:0.00NA 3922
    rs1879393361,2
    --80901569(+) GTGACA/GACCTG 1 -- ds50010--------
    rs1433552121,2
    --80901598(+) GTTAAC/TACACT 1 -- ds50010--------
    rs1932422161,2
    --80901622(+) TTGACA/CTGGTG 1 -- ds50010--------
    rs1467172861,2
    --80901624(+) GACCTC/GGTGGC 1 -- ds50010--------
    rs797948021,2
    C--80901629(+) GGTGGC/TCAATG 1 -- ds50012Minor allele frequency- T:0.10CSA WA 120
    rs1404236031,2
    --80901633(+) GCCAAC/TGGTCT 1 -- ds50010--------
    rs1836225811,2
    --80901666(+) GTTACA/GTTTTT 1 -- ds50010--------
    rs1885628731,2
    --80901673(+) TTTTAC/TGAGAT 1 -- ut310--------
    rs1455193111,2
    C--80901674(+) TTTACA/GAGATT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for B3GNTL1 (80900031 - 81009686 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/85 variations for B3GNTL1 (see all 85):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2658570CNV Deletion23128226
    esv2716600CNV Deletion23290073
    esv1777160CNV Deletion17803354
    esv2656462CNV Deletion23128226
    esv2716598CNV Deletion23290073
    esv1288528CNV Deletion17803354
    esv2716570CNV Deletion23290073
    esv2678985CNV Deletion23128226
    esv2716574CNV Deletion23290073
    esv2337820CNV Deletion18987734

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 615337    OMIM disorders: --

    2 diseases for B3GNTL1:    About MalaCards
    prostatitis    


    B3GNTL1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): B3GNTL1

    Export disorders for B3GNTL1 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 B3GNTL1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with B3GNTL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a cDNA encoding a protein with limited similarity to beta1, 3-N-acetylglucosaminyltransferase. (PubMed id 15560372)1, 2 Zheng H.... Mao Y. (2004)
    2. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    3. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    4. A genome-wide association study identifies a novel ma jor locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. (PubMed id 19875614)4 Paterson A.D....Bull S.B. (2010)
    5. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    9. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1 Yu W.... Gibbs R.A. (1997)
    10. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1 Andersson B.... Gibbs R.A. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 146712 HGNC: 21727 AceView: LOC146712 Ensembl:ENSG00000175711 euGenes: HUgn146712
    ECgene: B3GNTL1 H-InvDB: B3GNTL1

    (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 B3GNTL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for B3GNTL1 gene:
    Search GeneIP for patents involving B3GNTL1

    GeneCards and IP:
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