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B3GALNT1 Gene

protein-coding   GIFtS: 61
GCID: GC03M160801

Beta-1,3-N-Acetylgalactosaminyltransferase 1 (Globoside...

(Previous names: UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide...)
(Previous symbol: B3GALT3)
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(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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Beta-1,3-N-Acetylgalactosaminyltransferase 1 (Globoside Blood
Group)1 2
     P12
B3GALT31 2 3 5     beta-1,3-GalNAc-T12
Globoside Synthase1 2 3     beta-3-Gx-T32
UDP-Gal:BetaGlcNAc Beta 1,3-Galactosyltransferase, Polypeptide 3
(Globoside Blood Group)1 2
     beta3Gal-T32
P Antigen Synthase1 2     beta3GalT32
Beta-1,3-Galactosyltransferase 32 3     brainiac12
Beta-1,3-GalTase 32 3     galT32
Galactosylgalactosylglucosylceramide
Beta-D-Acetyl-Galactosaminyltransferase2 3
     Globotriaosylceramide 3-Beta-N-Acetylgalactosaminyltransferase2
b3Gal-T32 3     P Blood Group Globoside2
UDP-N-Acetylgalactosamine:Globotriaosylceramide
Beta-1,3-N-Acetylgalactosaminyltransferase2 3
     UDP-GalNAc:Beta-1,3-N-Acetylgalactosaminyltransferase 12
EC 2.4.1.793 8     UDP-GalNAc:BetaGlcNAc Beta-1,3-Galactosaminyltransferase, Polypeptide 1
(Globoside Blood Group)2
GLCT32 5     Beta-1,3-GalNAc-T13
GLOB2 5     Beta-3-Gx-T33
UDP-GalNAc:BetaGlcNAc Beta 1,3-Galactosaminyltransferase, Polypeptide 1
(Globoside Blood Group)1
     Beta3Gal-T33
Gb4Cer2     Beta3GalT33
P2     

External Ids:    HGNC: 9181   Entrez Gene: 87062   Ensembl: ENSG000001692557   OMIM: 6030945   UniProtKB: O757523   
ORGUL members:         

Export aliases for B3GALNT1 gene to outside databases

Previous GC identifers: GC03M162285 GC03M158200


(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 B3GALNT1 Gene:
This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II
membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and
UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine).
The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence
contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or
alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas
beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during
embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other
beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as
an acceptor sugar at all. Multiple transcript variants that are alternatively spliced in the 5' UTR have been
described; they all encode the same protein. (provided by RefSeq, Jul 2008)

GeneCards Summary for B3GALNT1 Gene:
B3GALNT1 (beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)) is a protein-coding gene. GO annotations related to this gene include galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity and UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity. An important paralog of this gene is B3GNT3.

UniProtKB/Swiss-Prot: B3GL1_HUMAN, O75752
Function: Transfers N-acetylgalactosamine onto globotriaosylceramide

Gene Wiki entry for B3GALNT1 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 at NCBI GenBank:
NC_000003.11  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the B3GALNT1 gene promoter:
         TBP   POU2F1   POU2F1a   GATA-2   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidB3GALNT1 promoter sequence
   Search Chromatin IP Primers for B3GALNT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat B3GALNT1


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

Entrez Gene cytogenetic band: 3q25   Ensembl cytogenetic band:  3q26.1   HGNC cytogenetic band: 3q25

B3GALNT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B3GALNT1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M160801:  view genomic region     (about GC identifiers)

Start:
160,801,671 bp from pter      End:
160,823,172 bp from pter
Size:
21,502 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: B3GL1_HUMAN, O75752 (See protein sequence)
Recommended Name: UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1  
Size: 331 amino acids; 39512 Da
Cofactor: Magnesium
Secondary accessions: D3DNM4 Q3Y531 Q6IAI5 Q8NFM8 Q8NFM9 Q9HA06

Explore the universe of human proteins at neXtProt for B3GALNT1: NX_O75752

Explore proteomics data for B3GALNT1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn72, Asn154, Asn198, Asn212, Ser225, Asn326
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for B3GALNT1 (O75752)
     LALSLEDEH  FTLREHSNCS  LYGDIIRQDFLDTYNNLTLKTIMAFRWV 


    See B3GALNT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001033717.1  NP_003772.1  NP_149357.1  NP_149358.1  NP_149359.1  

    ENSEMBL proteins: 
     ENSP00000323479   ENSP00000376530   ENSP00000376532   ENSP00000418226   ENSP00000407027  
     ENSP00000420163   ENSP00000419476   ENSP00000418567   ENSP00000420604   ENSP00000417643  
     ENSP00000420059   ENSP00000417053   ENSP00000419127   ENSP00000376531  

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    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for B3GALNT1 (2 products) 

     
    antibodies-online peptides for B3GALNT1

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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:
    bloodgroup: Blood group antigens
    B3GT: Beta 3-glycosyltransferases

    1 InterPro protein domain:
     IPR002659 Glyco_trans_31

    Graphical View of Domain Structure for InterPro Entry O75752

    ProtoNet protein and cluster: O75752

    1 Blocks protein domain: IPB002659 Glycosyl transferase

    UniProtKB/Swiss-Prot: B3GL1_HUMAN, O75752
    Similarity: Belongs to the glycosyltransferase 31 family


    Find genes that share domains with B3GALNT1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: B3GL1_HUMAN, O75752
    Function: Transfers N-acetylgalactosamine onto globotriaosylceramide
    Catalytic activity: UDP-N-acetyl-alpha-D-galactosamine +
    alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide = UDP +
    N-acetyl-beta-D-galactosaminyl-(1->3)-alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide

         Enzyme Number (IUBMB): EC 2.4.1.791 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008378galactosyltransferase activity ----
    GO:0008499UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity IEA--
    GO:0016757transferase activity, transferring glycosyl groups ----
    GO:0047273galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity IEA--
         
    Find genes that share ontologies with B3GALNT1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for B3GALNT1:
     Increased S DNA content 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for B3galnt1):
     mortality/aging  normal  reproductive system 

    Find genes that share phenotypes with B3GALNT1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for B3GALNT1: B3galnt1tm1Led B3galnt1tm1Dgen

       genOway: Develop your customized and physiologically relevant rodent model for B3GALNT1

    miRNA
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    miRTarBase miRNAs that target B3GALNT1:
    hsa-mir-375 (MIRT019962), hsa-mir-192-5p (MIRT004161), hsa-mir-215-5p (MIRT024506), hsa-mir-21-5p (MIRT030909)

    Block miRNA regulation of human, mouse, rat B3GALNT1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate B3GALNT1 (see all 15):
    hsa-miR-140-3p hsa-miR-548p hsa-miR-429 hsa-miR-3653 hsa-miR-133b hsa-miR-3160-3p hsa-miR-27b* hsa-miR-942
    SwitchGear 3'UTR luciferase reporter plasmidB3GALNT1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for B3GALNT1


    (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
    B3GL1_HUMAN, O75752: Golgi apparatus membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    extracellular2
    endoplasmic reticulum1
    lysosome1
    mitochondrion1
    peroxisome1
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with B3GALNT1           About GenesLikeMe


    (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 B3GALNT1 About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolic pathways0.38
    2Glycosphingolipid biosynthesis - globo series
    Glycosphingolipid biosynthesis - globo series


    Find genes that share SuperPaths with B3GALNT1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Kegg Pathways  (Kegg details for B3GALNT1):
        Glycosphingolipid biosynthesis - globo series
    Metabolic pathways

    UniProtKB/Swiss-Prot: B3GL1_HUMAN, O75752
    Pathway: Protein modification; protein glycosylation

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for B3GALNT1
    Interactions:

        Search GeneGlobe Interaction Network for B3GALNT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for B3GALNT1 (ENSP000003234794) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    A4GALTENSP000002490054STRING: ENSP00000249005
    B3GALT5ENSP000003433184STRING: ENSP00000343318
    GBGT1ENSP000003611104STRING: ENSP00000361110
    NAGAENSP000003796804STRING: ENSP00000379680
    GLAENSP000002185164STRING: ENSP00000218516
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006486protein glycosylation IEA--
    GO:0009312oligosaccharide biosynthetic process IEA--

    Find genes that share ontologies with B3GALNT1           About GenesLikeMe



    (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
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      Browse compounds at ApexBio 

    Browse Tocris compounds for B3GALNT1 (B3GL1)

    Selected HMDB Compounds for B3GALNT1 (see all 16)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Lactosaminebeta-D-galactopyranosyl-(1->4)-2-amino-2-deoxy-D-glucose (see all 8)13000-25-4--
    MagnesiumMagnesium (see all 2)7439-95-4--
    N-Acetylgalactosamine2-Acetamido-2-desoxy-b-D-talofuranose (see all 113)1811-31-0--
    Tetrahexosylceramide (d18:1/12:0)CQH (see all 21)11034-93-8--
    Trihexosylceramide (d18:1/12:0)Ceramide trihexoside (see all 13)71965-57-6--
    Trihexosylceramide (d18:1/16:0)Ceramide trihexoside (see all 12)71965-57-6--
    Trihexosylceramide (d18:1/18:0)Ceramide trihexoside (see all 13)71965-57-6--
    Trihexosylceramide (d18:1/20:0)Ceramide trihexoside (see all 13)71965-57-6--
    Trihexosylceramide (d18:1/22:0)Ceramide trihexoside (see all 13)71965-57-6--
    Trihexosylceramide (d18:1/24:0)Ceramide trihexoside (see all 13)71965-57-6--



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for B3GALNT1 gene (5 alternative transcripts): 
    NM_001038628.1  NM_003781.3  NM_033167.2  NM_033168.2  NM_033169.2  

    Unigene Cluster for B3GALNT1:

    Beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
    Hs.418062  [show with all ESTs]
    Unigene Representative Sequence: NM_001038628
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000320474 ENST00000392779 ENST00000392781(uc003fdv.3 uc003fdw.3)
    ENST00000473285(uc011bpa.2) ENST00000417187 ENST00000488170 ENST00000468268
    ENST00000492353 ENST00000473142 ENST00000498216 ENST00000484127 ENST00000460353
    ENST00000494173 ENST00000496295 ENST00000476999 ENST00000478383 ENST00000494818
    ENST00000497487
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    hsa-miR-140-3p hsa-miR-548p hsa-miR-429 hsa-miR-3653 hsa-miR-133b hsa-miR-3160-3p hsa-miR-27b* hsa-miR-942
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    Additional mRNA sequence: 

    AB050855.1 AB050856.1 AB060691.1 AK022491.1 AK095917.1 AK223439.1 AY359049.1 BC028571.1 
    BC047618.1 CR457170.1 Y15062.1 

    13 DOTS entries:

    DT.456055  DT.100754082  DT.100754084  DT.120873432  DT.100754085  DT.95365475  DT.400608  DT.120873440 
    DT.120873415  DT.92428165  DT.100754081  DT.120873446  DT.91810638 

    Selected AceView cDNA sequences (see all 140):

    BC047618 AI245833 AK022491 AU122791 BU627236 BM972612 BM972525 AF132731 
    AA243864 AI214215 AI479302 NM_033169 AB060691 BM011051 AI374946 AA405173 
    AI039028 AL042887 CR457170 NM_033167 AB050856 AA593999 BM719255 AU117849 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for B3GALNT1 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c
    SP1:                                                                              
    SP2:                          -                       -     -                     
    SP3:                          -           -                                       
    SP4:                          -           -                 -                     
    SP5:                          -           -           -     -                     


    ECgene alternative splicing isoforms for B3GALNT1

    (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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    B3GALNT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGTTTTAGC
    B3GALNT1 Expression
    About this image


    B3GALNT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
     
     Thymus (Hematopoietic System)
             Thymus
    B3GALNT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    B3GALNT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.418062

    UniProtKB/Swiss-Prot: B3GL1_HUMAN, O75752
    Tissue specificity: Higher expression in heart and brain, and to a lesser extent in lung, placenta, kidney and
    testis. Lower expression in liver, spleen and stomach. No expression in skeletal muscle

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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 chordates.

    Orthologs for B3GALNT1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia B3galnt11 , 5 UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, more1, 5 88.42(n)1
    93.35(a)1
      3 (32.24 cM)5
    268791  NM_020026.41  NP_064410.11 
     695741865 
    chicken
    (Gallus gallus)
    Aves B3GALNT11 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside more 69.92(n)
    66.33(a)
      425010  XM_004943513.1  XP_004943570.1 
    lizard
    (Anolis carolinensis)
    Reptilia B3GALNT16
    beta-1,3-N-acetylgalactosaminyltransferase 1 (glob...
    58(a)
    1 ↔ 1
    3(12878263-12879219)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1945516
    zgc:194551
    26(a)
    many ↔ many
    22(27161240-27171701) ENSDARG00000077903


    ENSEMBL Gene Tree for B3GALNT1 (if available)
    TreeFam Gene Tree for B3GALNT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for B3GALNT1 gene
    B3GNT32  B3GNT22  B3GNT52  B3GALT52  B3GALT12  B3GNT42  B3GALT42  B3GALT22  
    B3GNT72  B3GNT82  B3GNT62  B3GNT92  
    Selected SIMAP similar genes for B3GALNT1 using alignment to 14 protein entries:     B3GL1_HUMAN (see all proteins) (see all similar genes):
    OK/KNS-cl.1    ZNF564    AURA2    FAM175A    PKN1    ZNF212
    NF2    SHANK2    APOD    ZNF74    TMEM14B    UTY
    CTSS    SPATS2L    B3GALT2    DNAPTP3    B3GALT5    B3GALT1

    Find genes that share paralogs with B3GALNT1           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for B3GALNT1
    PGOHUM00000245101 PGOHUM00000240673


    (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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    B3GL1_HUMAN, O75752: Genetic variation in B3GALNT1 is responsible for the blood group P1PK system [MIM:111400]. Different
    combinations or absence of the P1PK antigens define 5 different phenotypes: P1, P2, P1(k), P2(k), and P. The
    P1(k) and P2(k) phenotypes are rare and characterized by lack of the P antigen
    B3GL1_HUMAN, O75752: B3GALNT1 activity is responsible for the globoside blood group system (GLOB), which is defined by
    the P antigen [MIM:615021]


    Selected SNPs for B3GALNT1 (see all 495)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048936831,2
    Cpathogenic1160785477(-) ATGTCA/GGGATC 10 R G mis10--------
    rs289375821,2,,4
    Cpathogenic1160785491(-) GTTTGA/CAGATG 10 E A mis1 ese30--------
    rs113182851,2
    C,F--158210921(+) ACATTA/-AAAAA 5 -- int13Minor allele frequency- -:0.24NS NA 96
    rs1145559721,2
    F--160782931(+) CTTTAC/TAAACA 5 -- ds50011Minor allele frequency- T:0.01NA 120
    rs344457481,2
    C,F--160782937(-) GTGCCA/GTGTTT 5 -- ds50016Minor allele frequency- G:0.06NS NA WA EA 318
    rs1398445911,2
    --160783038(+) AAACTC/TTGACT 5 -- ds50010--------
    rs345737701,2
    C,F--160783262(-) AGATGT/CGGTGA 5 -- ds50013Minor allele frequency- C:0.02NS WA 192
    rs344871471,2
    C,F--160783280(-) AGACCT/CTCCAG 5 -- ds50014Minor allele frequency- C:0.01NS NA 78
    rs1901093301,2
    --160783372(+) CAAGGC/TTCTAT 5 -- ds50010--------
    rs1429108461,2
    --160783392(+) TTTTAA/GTAAGT 5 -- ds50010--------

    HapMap Linkage Disequilibrium report for B3GALNT1 (160801671 - 160823172 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for B3GALNT1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv877706CNV Loss21882294
    nsv877704CNV Loss21882294
    nsv877707CNV Loss21882294
    dgv5282n71CNV Loss21882294
    nsv877705CNV Gain21882294

    Human Gene Mutation Database (HGMD): B3GALNT1
    Blood Group Antigen Gene Mutation Database (BGMUT) blood group system
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing B3GALNT1
    DNA2.0 Custom Variant and Variant Library Synthesis for B3GALNT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603094   
    OMIM disorders: 615021  111400  

    Find genes that share disorders with B3GALNT1           About GenesLikeMe

    Human Genome Epidemiology (HuGE) Navigator: B3GALNT1 (1 document)

    Export disorders for B3GALNT1 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 B3GALNT1 gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with B3GALNT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression cloning of human globoside synthase cDNAs. Identification of beta3Gal-T3 as UDP-N-acetylgalactosamine:globotriaosylceramide beta1,3-N-acetylgalactosaminyltransferase. (PubMed id 10993897)1, 2, 3, 9 Okajima T.... Furukawa K. (J. Biol. Chem. 2000)
    2. A family of human beta3-galactosyltransferases. Characterization of four members of a UDP-galactose:beta-N-acetyl-glucosamine/beta- nacetyl-galactosamine beta-1,3-galactosyltransferase family. (PubMed id 9582303)1, 2, 3 Amado M.... Clausen H. (J. Biol. Chem. 1998)
    3. 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)
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    5. Molecular basis of the globoside-deficient P(k) blood group phenotype. Identification of four inactivating mutations in the UDP-N- acetylgalactosamine: globotriaosylceramide 3-beta-N- acetylgalactosaminyltransferase gene. (PubMed id 12023287)1, 2 Hellberg A.... Olsson M.L. (J. Biol. Chem. 2002)
    6. P1/P2 genotyping of known and novel null alleles in the P1PK and GLOB histo-blood group systems. (PubMed id 23927681)1 Westman J.S....Olsson M.L. (Transfusion 2013)
    7. Genome-wide association study of age at menarche in African-American women. (PubMed id 23599027)1 Demerath E.W....Haiman C.A. (Hum. Mol. Genet. 2013)
    8. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    9. Variants of the melanocortin 1 receptor gene (MC1R) and P gene would be effective for estimating the population origin of an individual. (PubMed id 19264528)1 Masui S....Matoba R. (Leg Med (Tokyo) 2009)
    10. Variants of the melanocortin 1 receptor gene (MC1R) and P gene as indicators of the population origin of an individual. (PubMed id 18839200)1 Masui S....Matoba R. (Int. J. Legal Med. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 8706 HGNC: 918 AceView: B3GALT3 Ensembl:ENSG00000169255 euGenes: HUgn8706
    ECgene: B3GALNT1 Kegg: 8706 H-InvDB: B3GALNT1

    (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 B3GALNT1 Pharmacogenomics, SNPs, Pathways
    dbRBC/BGMUThttp://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=p
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B3GALNT1
    SeattleSNPshttp://pga.gs.washington.edu/data/b3galt3/
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_451

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for B3GALNT1 gene:
    Search GeneIP for patents involving B3GALNT1

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



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