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

B4GALNT1 Gene

protein-coding   GIFtS: 54
GCID: GC12M058019

beta-1,4-N-acetyl-galactosaminyl transferase 1

(Previous names: UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide...)
(Previous symbol: GALGT)
 Explore 6 diseases affiliated with
B4GALNT1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for B4GALNT1    

Aliases
for B4GALNT1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Beta-1,4-N-Acetyl-Galactosaminyl Transferase 11 2     GM2/GD2 Synthase2 3
GALGT1 2 3 5     EC 2.4.1.923 8
Beta1-4GalNAc-T1     GALNACT2 5
UDP-Gal:BetaGlcNAc Beta-1,4-N-Acetylgalactosaminyltransferase Transferase 11 2     Beta-1,4 N-Acetylgalactosaminyltransferase 12
UDP-N-Acetyl-Alpha-D-Galactosamine:(N-Acetylneuraminyl)-Galactosylglucosylceramide
N-Acetylgalactosaminyltransferase (GalNAc-T)1 2
     Beta1,4GalNAc-T1
(N-Acetylneuraminyl)-Galactosylglucosylceramide1     GD2 Synthase, GM2 Synthase2
GalNAc-T2 3     SIAT23

External Ids:    HGNC: 41171   Entrez Gene: 25832   Ensembl: ENSG000001354547   OMIM: 6018735   UniProtKB: Q009733   

Export aliases for B4GALNT1 gene to outside databases

Previous GC identifers: GC12M056306 GC12M055057


Summaries
for B4GALNT1 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 B4GALNT1:
GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the
biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by
a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, Feb 2013)

UniProtKB/Swiss-Prot: B4GN1_HUMAN, Q00973
Function: Involved in the biosynthesis of gangliosides GM2, GD2 and GA2

Gene Wiki entry for B4GALNT1


Genomic Views
for B4GALNT1 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_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the B4GALNT1 gene promoter:
         p53   AML1a   FOXD1   Cdc5   c-Ets-1   GATA-2   HEN1   POU2F1   POU2F1a   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: B4GALNT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for B4GALNT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat B4GALNT1


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

Entrez Gene cytogenetic band: 12q13.3   Ensembl cytogenetic band:  12q13.3   HGNC cytogenetic band: 12q13.3

B4GALNT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B4GALNT1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M058019:  view genomic region     (about GC identifiers)

Start:
 58,017,193 bp from pter      End:
 58,027,138 bp from pter
Size:
 9,946 bases      Orientation:
 minus strand

Proteins
for B4GALNT1 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: B4GN1_HUMAN, Q00973 (See protein sequence)
Recommended Name: Beta-1,4 N-acetylgalactosaminyltransferase 1  
Size: 533 amino acids; 58882 Da
Subunit: Homodimer; disulfide-linked
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein

Explore the universe of human proteins at neXtProt for B4GALNT1: NX_Q00973

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q00973

    • 4 DME Specific Peptides for B4GALNT1 (Q00973)
     VGFDPRL  GVVNFFLA  MPFGKGWFAGRNLA  SQVTTKYVLWVDDDF 

    B4GALNT1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001263397.1  NP_001263398.1  NP_001469.1  

    ENSEMBL proteins: 
     ENSP00000341562   ENSP00000401601   ENSP00000447076   ENSP00000448577   ENSP00000447750  
     ENSP00000450303   ENSP00000448500   ENSP00000447945   ENSP00000448340   ENSP00000449534  
     ENSP00000446566  

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    Uscn Proteins for B4GALNT1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005886plasma membrane IEA--
    GO:0016020membrane TAS1601877
    GO:0030173integral to Golgi membrane IEA--


    B4GALNT1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for B4GALNT1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    B4GALNT1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR011143 GM2_synthase
     IPR001173 Glyco_trans_2

    Graphical View of Domain Structure for InterPro Entry Q00973

    ProtoNet protein and cluster: Q00973

    1 Blocks protein family: IPB001173 Glycosyl transferase

    UniProtKB/Swiss-Prot: B4GN1_HUMAN, Q00973
    Similarity: Belongs to the glycosyltransferase 2 family


    Function
    for B4GALNT1 gene

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

         UniProtKB/Swiss-Prot: B4GN1_HUMAN, Q00973
    Function: Involved in the biosynthesis of gangliosides GM2, GD2 and GA2
    Catalytic activity: UDP-N-acetyl-alpha-D-galactosamine +
    O-(N-acetyl-alpha-neuraminyl)-(2->3)-O-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranosyl-(1<->1)-ceramide = UDP +
    O-2-(acetylamino)-2-deoxy-beta-D-galactopyranosyl-(1->4)-O-(N-acetyl-alpha-neuraminyl-(2->3))-O-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranosyl-(1<->1)-ceramide

    Enzyme Number (IUBMB): EC 2.4.1.921 2

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: B4GALNT1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003947(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity IEA--
    GO:0008376acetylgalactosaminyltransferase activity ----
    GO:0016757transferase activity, transferring glycosyl groups ----


    B4GALNT1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for B4GALNT1:
     Decreased number of cells in m 

    Animal Models:
         Mouse knock-outs for B4GALNT1: B4galnt1tm1Rlp B4galnt1tm1Sia
         9 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for B4galnt1):
     behavior/neurological  endocrine/exocrine gland  hematopoietic system  immune system  mortality/aging 
     nervous system  renal/urinary system  reproductive system  respiratory system 

    B4GALNT1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for B4GALNT1 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
    1Ganglio Sphingolipid Metabolism
    		Ganglio Sphingolipid Metabolism1.00
    		Glycosphingolipid biosynthesis - ganglio series0.53
    2Metabolism
    		Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for B4GALNT1 
        Ganglio Sphingolipid Metabolism


    2         Kegg Pathways  (Kegg details for B4GALNT1):
        Glycosphingolipid biosynthesis - ganglio series
    Metabolic pathways

    UniProtKB/Swiss-Prot: B4GN1_HUMAN, Q00973
    Pathway: Protein modification; protein glycosylation


    B4GALNT1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for B4GALNT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/8 Interacting proteins for B4GALNT1 (ENSP000003415624) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ST3GAL5ENSP000003665494STRING: ENSP00000366549
    ST8SIA1ENSP000003793534STRING: ENSP00000379353
    ST8SIA5ENSP000003213434STRING: ENSP00000321343
    GLB1ENSP000003069204STRING: ENSP00000306920
    SLC33A1ENSP000003524564STRING: ENSP00000352456
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001574ganglioside biosynthetic process IEA--
    GO:0005975carbohydrate metabolic process TAS1601877
    GO:0006486protein glycosylation IEA--
    GO:0006687glycosphingolipid metabolic process TAS1601877
    GO:0007283spermatogenesis IEA--


    B4GALNT1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for B4GALNT1 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

    B4GALNT1 for compounds           About GeneDecksing

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    Browse Tocris compounds for B4GALNT1

    10/76 HMDB Compounds for B4GALNT1 (see all 76)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Ganglioside GM2 (d18:0/12:0) --12486725
    Ganglioside GM2 (d18:0/14:0) --12486725
    Ganglioside GM2 (d18:0/16:0) --12486725
    Ganglioside GM2 (d18:0/18:0) --12486725
    Ganglioside GM2 (d18:0/18:1(11Z)) --12486725
    Ganglioside GM2 (d18:0/18:1(9Z)) --12486725
    Ganglioside GM2 (d18:0/20:0) --12486725
    Ganglioside GM2 (d18:0/22:0) --12486725
    Ganglioside GM2 (d18:0/22:1(13Z)) --12486725
    Ganglioside GM2 (d18:0/23:0) --12486725
    3 Novoseek chemical compound relationships for B4GALNT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    asialo gm2 83.5 2 7890749 (1), 8737246 (1)
    ganglioside 81.2 8 9639544 (1), 9930722 (1), 10820196 (1), 12177185 (1) (see all 5)
    tyrosine 3.63 2 18520032 (1), 16384890 (1)

    Search CenterWatch for drugs/clinical trials and news about B4GALNT1 / B4GN1 

    Transcripts
    for B4GALNT1 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, 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 B4GALNT1 gene (3 alternative transcripts): 
    NM_001276468.1  NM_001276469.1  NM_001478.4  

    Unigene Cluster for B4GALNT1:

    Beta-1,4-N-acetyl-galactosaminyl transferase 1
    Hs.159481  [show with all ESTs]
    Unigene Representative Sequence: AB209460
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000553142(uc010sru.2 uc001spg.1) ENST00000341156 ENST00000552468
    ENST00000418555 ENST00000552798 ENST00000547741 ENST00000549391 ENST00000449184(uc010srv.2)
    ENST00000550764(uc001spi.3) ENST00000552350 ENST00000548888 ENST00000552219
    ENST00000548487 ENST00000551925(uc010srw.1) ENST00000550943 ENST00000551220


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    Inhib. RNA
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    Additional cDNA sequence: 

    AB209460.1 AK127448.1 AK289690.1 AK293432.1 AK299845.1 AK302503.1 BC029828.1 M83651.1 

    10 DOTS entries:

    DT.309821  DT.97796097  DT.423176  DT.100775139  DT.99969655  DT.102841116  DT.86854056  DT.97837287 
    DT.95162962  DT.97810499 

    24/72 AceView cDNA sequences (see all 72):

    BM740142 CR610248 CB154451 AI084079 CK300234 M83651 AI360246 BM758410 
    AL520907 AA779389 AI913075 BU634463 BQ943591 CA431063 BQ647977 CR622992 
    BM827399 BU632715 BC029828 BU615671 BE547617 BI824508 BU543669 AL138237 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for B4GALNT1 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ·
    SP1:                    -     -     -                             -                                                                                             
    SP2:                                                              -                             -     -                                                         
    SP3:                    -     -     -                             -                                                                                             
    SP4:                                                              -                                                                                             
    SP5:                                                                                            -                                                               

    ExUns: 15c
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for B4GALNT1

    Expression
    for B4GALNT1 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

    B4GALNT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGGATAAAAT

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

    B4GALNT1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    6 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Gut TubeHindgutHindgut Endoderm CellsEndoderm
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    AdiposeBody Subcutaneous White AdiposeAdipose
    BoneZeugopod PeriosteumBone
    Gut TubeHindgutGut Tube
    Gut TubeMidgutGut Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See B4GALNT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for B4GALNT1

    SOURCE GeneReport for Unigene cluster: Hs.159481
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    Orthologs
    for B4GALNT1 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 chordates.

    Orthologs for B4GALNT1 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia B4galnt11 , 5 beta-1,4-N-acetyl-galactosaminyl transferase 11, 5 84.8(n)1
    86.87(a)1    		   10 (74.50 cM)5
    144211  NM_027739.21  NP_082015.21 
     1271651565 
    lizard
    (Anolis carolinensis)    		 Reptilia B4GALNT16
    		 --
    		 59(a)
    		 1 ↔ 1
    		 GL344119.1(21403-53530)
    African clawed frog
    (Xenopus laevis)    		 Amphibia MGC535232 similar to UDP-N-acetyl-alpha-D-galactosamine(N-acetylneuraminyl)- galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T) less 73.04(n)    BC045131.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC7936351 beta-1,4 N-acetylgalactosaminyltransferase 1-like 59.12(n)
    57.97(a)    		   793635  XM_001333393.1  XP_001333429.1 


    ENSEMBL Gene Tree for B4GALNT1 (if available)
    TreeFam Gene Tree for B4GALNT1 (if available) 

    Paralogs
    for B4GALNT1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for B4GALNT1 gene
    B4GALNT22  
    1 SIMAP similar gene for B4GALNT1 using alignment to 14 protein entries:     B4GN1_HUMAN (see all proteins):
    B4GALNT2

    B4GALNT1 for paralogs           About GeneDecksing



    Genomic Variants
    for B4GALNT1 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

    10/177 NCBI SNPs in B4GALNT1 are shown (see all 177)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs2017927381,2
    		--58019174(+) AACCCC/TTTTGC 2 -- ds5001 int10--------
    rs1398942851,2
    		C,--58019286(+) CTGGGA/CAATGA 2 -- ds5001 int10--------
    rs2003950611,2
    		--58019291(+) CAATGA/GCTGGA 2 -- ds5001 int10--------
    rs1136302031,2
    		--58019306(+) TGCGGG/TAGGGA 2 -- ds5001 int10--------
    rs1869817081,2
    		C,--58019315(+) GAAAAG/TGACCC 2 -- ds5001 int10--------
    rs1446879871,2
    		--58019596(+) AGAAGA/GAAAGG 2 -- ut310--------
    rs1850341151,2
    		--58019610(+) GGGACA/GGAATG 2 -- ut310--------
    rs1901746151,2
    		--58019715(+) GAGGAC/TTGCCA 2 -- ut310--------
    rs1169480111,2
    		C,F,--58019764(+) ACATGT/CCNNNN 2 -- ut311Minor allele frequency- C:0.02NA 120
    rs1929562861,2
    		--58019810(+) ACCGTA/GTGGGT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for B4GALNT1 (58017193 - 58027138 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for B4GALNT1: --

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    Disorders / Diseases
    for B4GALNT1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    B4GALNT1 for disorders           About GeneDecksing

    OMIM gene information: 601873    OMIM disorders: --

    6 diseases for B4GALNT1:    About MalaCards
    colon cancer    breast cancer    neuroblastoma    melanoma
    lung cancer    glioblastoma

    7 Novoseek disease relationships for B4GALNT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    melanoma 30.8 3 9930722 (1), 7487055 (1), 17634536 (1)
    gastric cancer 24.9 4 11914601 (1), 7533654 (1)
    colon cancer 13.6 1 11914601 (1)
    cancer lung 0.883 1 11914601 (1)
    breast cancer 0 2 11914601 (1), 17634536 (1)
    carcinoma 0 2 11914601 (1), 7533654 (1)
    cancer 0 8 11914601 (4), 17634536 (1)

    Human Genome Epidemiology (HuGE) Navigator: B4GALNT1 (1 document)

    Export disorders for B4GALNT1 gene to outside databases

    Publications
    for B4GALNT1 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 B4GALNT1 gene, integrated from 9 sources (see all 47):
    (articles sorted by number of sources associating them with B4GALNT1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides. (PubMed id 1601877)1, 2, 3 Nagata Y.... Furukawa K. (1992)
    2. Disulfide bonds of GM2 synthase homodimers. Antiparallel orientation of the catalytic domains. (PubMed id 11018043)1, 2 Li J.... Young W.W. Jr. (2000)
    3. Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides. (PubMed id 8120069)1, 2 Nagata Y.... Furukawa K. (1994)
    4. Glycosyltransferase B4GALNT1 and type 1 diabetes in Croatian population: clinical investigation. (PubMed id 19318031)1, 9 Boraska V....Zemunik T. (2009)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. Molecular upstaging based on paraffin-embedded sentin el lymph nodes: ten-year follow-up confirms prognostic utility in melanoma pati ents. (PubMed id 21135695)1 Nicholl M.B....Hoon D.S. (2011)
    7. Analysis of GD2/GM2 synthase mRNA as a biomarker for small cell lung cancer. (PubMed id 19457569)1 Chen L.C....Krug L.M. (2010)
    8. Evaluation of SAT-1, SAT-2 and GalNAcT-1 mRNA in colon cancer by real-time PCR. (PubMed id 17119850)1 Gornati R....Bernardini G. (2007)
    9. 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)
    10. Insights into the bile acid transportation system: the human ileal lipid-binding protein-cholyltaurine complex and its comparison with homologous structures. (PubMed id 12486725)6 Kurz M....Kramer W. (2003)

    External Searches for B4GALNT1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    OMIM
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    Genome Databases showing B4GALNT1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2583 HGNC: 4117 AceView: GALGT Ensembl:ENSG00000135454 euGenes: HUgn2583
    ECgene: B4GALNT1 Kegg: 2583 H-InvDB: B4GALNT1

    Other Databases showing B4GALNT1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing B4GALNT1 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 B4GALNT1 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_480

    Intellectual Property
    for B4GALNT1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for B4GALNT1 gene:
    Search GeneIP for patents involving B4GALNT1

    GeneCards and IP:
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