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B3GALNT1 Gene

protein-coding   GIFtS: 59

GC03M162285
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
(Previous names: UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group), UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: B3GALT3)
Services    

Aliases &
Descriptions
for B3GALNT1

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
B3GALT3 2, 3
Beta-3-GalNAc-T1 3
Beta-3-Gx-T3 3
Beta3Gal-T3 3
EC 2.4.1.79 3
GLCT3 2
GLOB 1, 2
Gb4Cer 2
P 2
P1 1, 2
b3Gal-T3 3
beta3Gal-T3 1, 2
brainiac1 2
galT3 1, 2
Descriptions
Beta-1,3-GalTase 3 3
Beta-1,3-galactosyltransferase 3 3
Galactosylgalactosylglucosylceramide
beta-D-acetyl-galactosaminyltransferase 3
Globoside synthase 2, 3
P antigen synthase 2
P blood group globoside 2
UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase 1 2
UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase,
polypeptide 3 (Globoside blood group) 1, 2
UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase,
polypeptide 1 (Globoside blood group) 1
UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase,
polypeptide 1 (Globoside blood group) 2
UDP-N-acetylgalactosamine:globotriaosylceramide
beta-1,3-N-acetylgalactosaminyltransferase 3
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside
blood group) 2
globotriaosylceramide
3-beta-N-acetylgalactosaminyltransferase 2
External Ids
HGNC: 9181
Entrez Gene: 87062
UniProtKB: O757523
Ensembl: ENSG000001692557
Search outside databases for aliases for B3GALNT1 gene

Summaries
for B3GALNT1

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

 EntrezGene summary for B3GALNT1:
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]

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

Gene Wiki entry for B3GALNT1

Genomic Location
for B3GALNT1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the B3GALNT1 gene  

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)

GeneLoc gene densities for chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M162285:     (about GC identifiers)

Start:
 162,284,365 bp from pter
End:
 162,305,854 bp from pter
Size:
 21,490 bases
Orientation:
 minus strand
RefSeq DNA sequence:
NC_000003.10  NT_005612.15  

Proteins
for B3GALNT1

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

 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
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein
Secondary accessions: Q3Y531 Q6IAI5 Q8NFM8 Q9HA06

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


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


    ENSEMBL proteins: 
    ENSP00000376532 ENSP00000376531 ENSP00000323479 ENSP00000376530 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (B3GALNT1)
    Human Recombinant Proteins from Abnova (B3GALNT1)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    4 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139 Golgi membrane IEA--
    GO:0005794 Golgi apparatus IEA--
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane IEA--
    About this table

    Antibodies for B3GALNT1: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (B3GALNT1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (B3GALNT1)
    Novus Biologicals Antibody for B3GALNT1

    Assays for B3GALNT1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    Protein Domains/
    Families
    for B3GALNT1

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro domain/family:
     IPR002659 Glyco_trans_31


       GeneDecks  B3GALNT1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry O75752

    ProtoNet protein and cluster: O75752

    1 Blocks protein family: IPB002659 Glycosyl transferase

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

    Gene Function
    for B3GALNT1

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (B3GALNT1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (B3GALNT1)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5): NM_033167

                  Applied Biosystems Silencer® siRNAs for B3GALNT1

                  Sigma-Aldrich siRNA for B3GALNT1  
                         Sigma-Aldrich shRNA for B3GALNT1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for B3GALNT1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 5): NM_001038628
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 5): NM_001038628
                                     untagged cDNA clones in CMV expression vector (see all 5): NM_001038628 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_003781

    UniProtKB/Swiss-Prot: B3GL1_HUMAN, O75752
    Function: Transfers N-acetylgalactosamine onto globotriaosylceramide
    Catalytic activity: UDP-N-acetyl-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 2.4.1.79 

    3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for B3galnt1):

    embryogenesislethality-prenatal/perinatalnormal

    5 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287 magnesium ion binding IEA--
    GO:0008378 galactosyltransferase activity IEA--
    GO:0008499 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity TAS9582303
    GO:0016757 transferase activity, transferring glycosyl groups IEA--
    GO:0047273 galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity IEA--
    About this table

    Pathways & Interactions
    for B3GALNT1

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    1 Invitrogen iPath™ Online BioAtlas - Pathway for B3GALNT1 (Maps provided by GeneGo):
     Sphingolipid metabolism

       GeneDecks  B3GALNT1 for the pathways selected above  
    About GeneDecksing

    1 Sigma-Aldrich "Your Favorite Gene" Pathway for  B3GALNT1  (Your Favorite Gene powered by Ingenuity) 
     Glycosphingolipid Biosynthesis - Globoseries

       GeneDecks  B3GALNT1 for the pathways selected above  
    About GeneDecksing

    1 Kegg Pathway  (Kegg details for B3GALNT1):
     hsa00603 Glycosphingolipid biosynthesis - globo series

       GeneDecks  B3GALNT1 for the pathways selected above  
    About GeneDecksing
    UniProtKB/Swiss-Prot: B3GL1_HUMAN, O75752
    Pathway: Protein modification; protein glycosylation


    5/11 Interacting proteins for B3GALNT1 (ENSP000003234793) via UniProtKB, MINT, and/or STRING (see all 11 )

    InteractantInteraction Details
    GeneCardExternal ID(s)
    A4GALTENSP000003706783STRING (score=.987)
    GLAENSP000002185163STRING (score=.921)
    GBGT1ENSP000003611133STRING (score=.918)
    B3GALT5ENSP000003699923STRING (score=.903)
    NAGAENSP000003553493STRING (score=.9)
    About this table

    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006486 protein amino acid glycosylation TAS9582303
    GO:0009312 oligosaccharide biosynthetic process IEA--
    About this table

    Drugs & Compounds
    for B3GALNT1

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for B3GALNT1

    Transcripts
    for B3GALNT1

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (B3GALNT1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (B3GALNT1)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5): NM_033167

                  Sigma-Aldrich siRNA for B3GALNT1  
                         Sigma-Aldrich shRNA for B3GALNT1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001038628  NM_003781  NM_033167  NM_033168  NM_033169  

    REFSEQ mRNAs for B3GALNT1 gene (5 alternative transcripts): 

    NM_001038628.1   NM_003781.3   NM_033167.2   NM_033168.2   NM_033169.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001038628  NM_003781  NM_033167  NM_033168  NM_033169  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 5): NM_001038628
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 5): NM_001038628
                                     untagged cDNA clones in CMV expression vector (see all 5): NM_001038628 

    Additional cDNA 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 

    24/140 AceView cDNA sequences (see all 140 ):

    BM011051 BU627236 BM984965 AB050856 AA858037 AI245833 BM907571 BE504975 
    BM683191 AI214215 AA233082 CR457170 NM_033167 Z45582 AA243864 AL711375 
    Z39228 AL042887 AA405173 BM972612 AU134111 BM692642 AI784518 AF132731 

    highest scoring ESTs for B3GALNT1:

    AA167825 AA305688 AK022491 AK095917 AL705442 AL711375 AU122791 AY359049 BC028571 BC047618 

    Unigene Cluster for B3GALNT1:

    Beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
    Hs.418062  [show with all ESTs]
    Unigene Representative Sequence: NM_001038628


    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for B3GALNT1 (see all 7 )

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

    About this scheme

    ECgene alternative splicing isoforms for B3GALNT1

    4 Ensembl transcripts including schematic representations:
    ENST00000392781  ENST00000392780  ENST00000320474  ENST00000392779  

    Expression
    for B3GALNT1

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    B3GALNT1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for B3GALNT1

    1 / 2 / 3

    8 probe-sets matching B3GALNT1 gene


    		Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    53879_at2, 3 U95-B 1 1.00 1.00 0.98 1.48 AA167825 0.80 1.00 0.91 1

    		39293_at2, 3 U95-A 2 1.00 0.81 0.99 0.56 Y15062 0.80 1.00 0.91 1

    		223374_s_at2, 3 U133-B 1 1.00 1.00 -- -- AF154848 0.60 1.00 0.82 1

    		211379_x_at2, 3 U133-A 1 1.00 1.00 -- -- AB050855 0.60 1.00 0.82 1

    		211812_s_at2, 3 U133-A 2 1.00 0.91 -- -- AB050856 0.60 1.00 0.82 1

    		223374_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		211379_x_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		211812_s_at2 U133Plus2 2 1.00 0.91 -- -- -- -- -- -- --
    GeneDecks  B3GALNT1 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: ATGTTTTAGC

    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

    Orthologs
    for B3GALNT1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for B3GALNT1 gene from 5 species
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    chimpanzee
    (Pan troglodytes)    		 B3GALNT11   -- beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside more 99.6(n)
    99.4(a)    		 460824  XM_001158851.1  XP_001158851.1 
    cow
    (Bos taurus)    		 B3GALNT11   -- beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside more 92.35(n)
    96.37(a)    		 767844  NM_001076963.1  NP_001070431.1 
    rat
    (Rattus norvegicus)    		 B3galnt11   -- beta-1,3-N-acetylgalactosaminyltransferase 1 87.61(n)
    92.45(a)    		 310508  NM_001013158.1  NP_001013176.1 
    mouse
    (Mus musculus)    		 B3galnt11, 5 35
    		 UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, more1, 5 88.32(n)1
    93.35(a)1    		 268791  NM_020026.31  NP_064410.11 
     AA1101115  AB0391545  (see all 17)
    chicken
    (Gallus gallus)    		 B3GALNT11   -- beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside more 70.7(n)
    67.47(a)    		 425010  XM_422814.2  XP_422814.1 
    About this table        Species with no ortholog for B3GALNT1

    ENSEMBL Gene Tree for B3GALNT1

    Paralogs
    for B3GALNT1

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for B3GALNT1 gene
    B3GALT22  B3GALT52  B3GALT12  

    SNPs/Variants
    for B3GALNT1

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section

    		UniProtKB/Swiss-Prot: B3GL1_HUMAN, O75752
    Polymorphism: Different combinations or absence of the P blood group system antigens define 5
    different phenotypes: P1, P2, P1(k), P2(k), and P. Genetic variation in B3GALT3 determines the
    P1(k) and P2(k) phenotype, which is rare and lack the capability to synthesize P antigen
    identified as globoside


    10/177 NCBI SNPs in B3GALNT1 are shown (see all 177 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 127)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 3 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    rs98618501,2
    		A,C,F,H162285936(+) TATAAC/TTCAGT 5 -- ut31 ese39Minor allele frequency- T:0.35NA EU EA WA NS 656
    rs98189921,2
    		A,C,F,H162285211(+) AAAAAA/TCACAG 5 -- ut31 trp37Minor allele frequency- T:0.05NA EU EA WA 552
    rs22312571,2
    		C,F,H162286861(-) AGGAAG/AACAAA 5 N/D mis1 trp310Minor allele frequency- A:0.02EU EA WA NS 920
    rs98188351,2
    		A,C,F162285075(+) GATATA/GTCACC 5 -- ut31 ese33Minor allele frequency- G:0.02NA 142
    rs22312561,2
    		C,F,H162287263(-) CCTTCG/AGCTCG 5 -- ut51 ese36Minor allele frequency- A:0.03EU EA WA NS 514
    rs98482391,2
    		A,C,F162306182(+) ATGCCC/AGTTCT 5 -- ng312Minor allele frequency- A:0.27NS 88
    --
    rs98234241,2
    		C,F162285540(+) CTGATA/GTGCAA 5 -- ut31 ese33Minor allele frequency- G:0.02NA 140
    --
    rs130606011,2
    		C,F162305853(+) CGGAAG/ACCCCT 5 -- ng31 ut51 tfbs32Minor allele frequency- A:0.18NS 92
    --
    rs345044551,2
    		F162284621(-) GATTACA/-GTTAT 5 -- ut312Minor allele frequency- -:0.05NS 80
    rs344457481,2
    		F162283886(-) GTGCCA/GTGTTT 5 -- ng512Minor allele frequency- G:0.05NS 76
    About this table

    HapMap Linkage Disequilibrium images for B3GALNT1 (up to first 250kb)

    Disorders & Mutations
    for B3GALNT1

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    		 OMIM: 603094

    Blood Group Antigen Gene Mutation Database (BGMUT) Globoside (P) blood group system 
    Human Gene Mutation Database: B3GALNT1
    Human Genome Epidemiology Navigator: B3GALNT1 (1 document)

    Medical News
    for B3GALNT1

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    		   --

    Publications
    for B3GALNT1

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    		10/22 PubMed articles for B3GALNT1 gene (see all 22 ):

    Search for B3GALNT1

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
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    Genome Databases showing B3GALNT1

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section
    Entrez Gene: 8706 HGNC: 918 AceView: B3GALT3 Ensembl:ENSG00000169255 euGenes: HUgn8706
    ECgene: B3GALNT1 H-InvDB: B3GALNT1

    Other Databases showing B3GALNT1

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing B3GALNT1

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    dbRBC/BGMUThttp://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=p
    GGDBhttp://riodb.ibase.aist.go.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

    Licensable Technologies
    for B3GALNT1

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for B3GALNT1

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for B3GALNT1:
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     Antibodies for B3GALNT1

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