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

B3GALNT1 Gene

protein-coding   GIFtS: 59
GCID: GC03M160801

beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside...

(Previous names: UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide...)
(Previous symbol: B3GALT3)
 Explore 3 diseases affiliated with
B3GALNT1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for B3GALNT1    

Aliases
for B3GALNT1 gene

(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-N-Acetylgalactosaminyltransferase 1 (Globoside Blood Group)1 2     UDP-GalNAc:BetaGlcNAc Beta 1,3-Galactosaminyltransferase, Polypeptide 1
(Globoside Blood Group)1
B3GALT31 2 3 5     Gb4Cer2
GLOB1 2     Beta-1,3-GalNAc-T13
P11 2     Beta-3-Gx-T33
Beta3Gal-T33     Beta3GalT33
GalT31     Brainiac11
UDP-Gal:BetaGlcNAc Beta 1,3-Galactosyltransferase, Polypeptide 3 (Globoside
Blood Group)1 2
     Globotriaosylceramide 3-Beta-N-Acetylgalactosaminyltransferase2
Beta-1,3-Galactosyltransferase 32 3     P Antigen Synthase2
Beta-1,3-GalTase 32 3     P Blood Group Globoside2
Galactosylgalactosylglucosylceramide Beta-D-Acetyl-Galactosaminyltransferase2 3     UDP-GalNAc:Beta-1,3-N-Acetylgalactosaminyltransferase 12
Globoside Synthase2 3     UDP-GalNAc:BetaGlcNAc Beta-1,3-Galactosaminyltransferase, Polypeptide 1
(Globoside Blood Group)2
B3Gal-T31     Beta-1,3-GalNAc-T13
UDP-N-Acetylgalactosamine:Globotriaosylceramide
Beta-1,3-N-Acetylgalactosaminyltransferase2 3
     Beta-3-Gx-T33
EC 2.4.1.793 8     Beta3Gal-T33
GLCT32 5     Beta3GalT33
P2 5     

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

Export aliases for B3GALNT1 gene to outside databases

Previous GC identifers: GC03M162285 GC03M158200


Summaries
for B3GALNT1 gene

(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 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, Jul 2008)

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

Gene Wiki entry for B3GALNT1


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the B3GALNT1 gene promoter:
         TBP   POU2F1   POU2F1a   GATA-2   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: B3GALNT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for B3GALNT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for B3GALNT1 gene

(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: 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: D3DNM4 Q3Y531 Q6IAI5 Q8NFM8 Q8NFM9 Q9HA06

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75752

    • 3 DME Specific Peptides for B3GALNT1 (O75752)
     LALSLEDEH  FTLREHSNCS  LYGDIIRQDFLDTYNNLTLKTIMAFRWV 

    B3GALNT1 Protein expression data from MOPED and PaxDb:    About this image 
    B3GALNT1 Protein Expression
    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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    Uscn Proteins for B3GALNT1

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

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

    B3GALNT1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for B3GALNT1

    Protein Domains /
    Families
    for B3GALNT1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    B3GALNT1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002659 Glyco_trans_31

    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


    Function
    for B3GALNT1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    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): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008378galactosyltransferase activity ----
    GO:0008499UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity IEA--
    GO:0047273galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity IEA--
         
    B3GALNT1 for ontologies           About GeneDecksing


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

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

    B3GALNT1 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-outs for B3GALNT1: B3galnt1tm1Led B3galnt1tm1Dgen
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for B3GALNT1 

    miRNA
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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
    SwitchGear 3'UTR luciferase reporter plasmid: B3GALNT1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    In Situ Assay
    Products:       
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    Pathways & Interactions
    for B3GALNT1 gene

    (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
    1Glycosphingolipid biosynthesis - globo series
    		Glycosphingolipid biosynthesis - globo series1.00
    2Metabolism
    		Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    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


    B3GALNT1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for B3GALNT1

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

    5/6 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 (GO ID links to tree view):    About this table

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

    B3GALNT1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for B3GALNT1 gene

    (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
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for B3GALNT1

    10/16 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--
    Search CenterWatch for drugs/clinical trials and news about B3GALNT1 / B3GL1 

    Transcripts
    for B3GALNT1 gene

    (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, Sirion Biotech, 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 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
    18/19 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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    8/15 QIAGEN miScript miRNA 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
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    Inhib. RNA
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    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):

    AL711375 BU627236 AI079970 BX478585 Y15062 BC047618 BM907571 AI039028 
    AI351682 AA770108 AA233082 AU122791 Z39228 Z45582 AU117849 NM_033167 
    BM692642 BM683191 BM972525 AA858037 BM984965 CR457170 CD518995 BM972612 

    GeneLoc Exon Structure

    5/7 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

    Expression
    for B3GALNT1 gene

    (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

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

    B3GALNT1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LiverLiver LobulePerivenous HepatocytesLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    HyStem+BMP4-induced E15 cells (HyStem+BMP4 inductio...)Adipose, Bone, Cartilage

    See B3GALNT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for B3GALNT1

    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
    for B3GALNT1 gene

    (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 B3GALNT1 gene from 3/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves B3GALNT11 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside more 69.04(n)
    65.05(a)    		   425010  XM_422814.3  XP_422814.2 
    lizard
    (Anolis carolinensis)    		 Reptilia B3GALNT16
    		 --
    		 59(a)
    		 1 ↔ 1
    		 3(12878263-12879219)
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG86736
    CG300366
    (see all 5)    		 --
    		 19(a)
    18(a)
    (see all 5)    		 many ↔ many
    many ↔ many
    (see all 5)    		 2L(8124329-8125799)
    2R(7865038-7866454)


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

    Paralogs
    for B3GALNT1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for B3GALNT1 gene
    B3GNT32  B3GNT22  B3GNT52  B3GALT52  B3GALT12  B3GNT42  B3GALT42  B3GNT72  
    B3GALT22  B3GNT82  B3GNT62  B3GNT92  
    18/20 SIMAP similar genes for B3GALNT1 using alignment to 10 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
    SPATS2L    B3GALT2    DNAPTP3    B3GALT5    B3GALT1    B3GNT3

    B3GALNT1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for B3GALNT1
    PGOHUM00000245101 PGOHUM00000240673


    Genomic Variants
    for B3GALNT1 gene

    (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

    UniProtKB/Swiss-Prot: B3GL1_HUMAN, O75752
    Polymorphism: Genetic variation in B3GALNT1 is responsible for the P system blood group phenotypes [MIM:111400].
    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


    10/413 NCBI SNPs in B3GALNT1 are shown (see all 413)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs289375821,2
    		Cpathogenic224655870(-) GTTTGA/CAGATG 10 E A mis1 ese32Minor allele frequency- C:0.00NA 4
    rs1048936831,2
    		Cpathogenic224655884(-) ATGTCA/GGGATC 10 R G mis10--------
    rs345737701,2
    		C--158199961(-) AGATGT/CGGTGA 5 -- ds50013Minor allele frequency- C:0.02NS WA 192
    rs344871471,2
    		C--158199979(-) AGACCT/CTCCAG 5 -- ds50014Minor allele frequency- C:0.01NS NA 78
    rs352339831,2
    		C,F,H--158200257(-) GCATTA/GCTCAC 5 -- ut317Minor allele frequency- G:0.01NS NA 590
    rs124968371,2
    		C,F,H--158200756(+) CTGCAT/CAAACC 5 -- ut31 ese34Minor allele frequency- C:0.08NA EA 126
    rs762449741,2
    		--158200833(+) ACCACG/ATCTAT 5 -- ut311Minor allele frequency- A:0.01NA 120
    rs357804441,2
    		C,F--158201345(-) CTGATC/AAGTTT 5 -- ut315Minor allele frequency- A:0.05NS NA WA 216
    rs342444381,2
    		C,F--158201489(-) TACTTC/TAAGAT 5 -- ut315Minor allele frequency- T:0.05NS NA WA 216
    rs22312551,2
    		H--158203144(-) GTCAGG/AATTTT 5 -- int13Minor allele frequency- A:0.00EA NS 300

    HapMap Linkage Disequilibrium report for B3GALNT1 (160801671 - 160823172 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for B3GALNT1: --
    Human Gene Mutation Database (HGMD): B3GALNT1
    Blood Group Antigen Gene Mutation Database (BGMUT) blood group system

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    Disorders / Diseases
    for B3GALNT1 gene

    (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.)
    About This Section
    B3GALNT1 for disorders           About GeneDecksing

    OMIM gene information: 603094   
    OMIM disorders: 111400  
    3 diseases for B3GALNT1:    About MalaCards
    urinary tract infection    hemolytic-uremic syndrome    immunodeficiency

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

    Export disorders for B3GALNT1 gene to outside databases

    Publications
    for B3GALNT1 gene

    (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 B3GALNT1 gene, integrated from 9 sources (see all 24):
    (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 beta 3Gal-T3 as UDP-N-acetylgalactosamine:globotriaosylceramide beta 1,3-N-acetylgalactosaminyltransferase. (PubMed id 10993897)1, 2, 3, 9 Okajima T....Furukawa K. (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. (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. (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. (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. (2002)
    6. Variants of the melanocortin 1 receptor gene (MC1R) a nd P gene would be effective for estimating the population origin of an individ ual. (PubMed id 19264528)1 Masui S....Matoba R. (2009)
    7. 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. (2009)
    8. Comparison of HPLC/ESI-FTICR MS versus MALDI-TOF/TOF M S for glycopeptide analysis of a highly glycosylated HIV envelope glycoprotein. (PubMed id 18565761)1 Irungu J....Desaire H. (2008)
    9. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)

    External Searches for B3GALNT1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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    Genome Databases showing B3GALNT1 gene

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

    Other Databases showing B3GALNT1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing B3GALNT1 gene

    (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 B3GALNT1 Pharmacogenomics, SNPs, Pathways
    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

    Intellectual Property
    for B3GALNT1 gene

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

    GeneCards and IP:
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