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B4GALNT4 Gene

protein-coding   GIFtS: 43
GCID: GC11P000369

Beta-1,4-N-Acetyl-Galactosaminyl Transferase 4

  Search for B4GALNT4
at  

(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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Aliases
Beta-1,4-N-Acetyl-Galactosaminyl Transferase 41 2     betaGT42
Beta-1,4-N-Acetylgalactosaminyltransferase IV2 3     N-Acetyl-Beta-Glucosaminyl-Glycoprotein
4-Beta-N-Acetylgalactosaminyltransferase 12
NGalNAc-T12 3     Beta4GalNAc-T43
Beta1,4-N-Acetylgalactosaminyltransferases IV2     Beta4GalNAcT43
beta4GalNAc-T42     EC 2.4.1.2443
beta4GalNAcT42     

External Ids:    HGNC: 263151   Entrez Gene: 3387072   Ensembl: ENSG000001822727   UniProtKB: Q76KP13   

Export aliases for B4GALNT4 gene to outside databases

Previous GC identifers: GC11P000360 GC11P000361 GC11P000362 GC11P000363 GC11P000364 GC11P000365 GC11P000366 GC11P000368 GC11P000189


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for B4GALNT4 Gene:
B4GALNT4 (beta-1,4-N-acetyl-galactosaminyl transferase 4) is a protein-coding gene. GO annotations related to this gene include acetylgalactosaminyltransferase activity and N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity. An important paralog of this gene is CSGALNACT1.

UniProtKB/Swiss-Prot: B4GN4_HUMAN, Q76KP1
Function: Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a
beta-1,4-linkage to form N,N'-diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and
probably O-linked glycans




(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_000011.9  NT_009237.19  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the B4GALNT4 gene promoter:
         Max1   Egr-1   E47   N-Myc   Max   AREB6   HSF2   SEF-1 (1)   c-Myc   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidB4GALNT4 promoter sequence
   Search Chromatin IP Primers for B4GALNT4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat B4GALNT4


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

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.5   HGNC cytogenetic band: 11p15.5

B4GALNT4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B4GALNT4 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P000369:  view genomic region     (about GC identifiers)

Start:
369,795 bp from pter      End:
382,117 bp from pter
Size:
12,323 bases      Orientation:
plus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: B4GN4_HUMAN, Q76KP1 (See protein sequence)
Recommended Name: N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1  
Size: 1039 amino acids; 116513 Da
Sequence caution: Sequence=BAB71566.1; Type=Erroneous initiation;
Secondary accessions: Q96LV2

Explore the universe of human proteins at neXtProt for B4GALNT4: NX_Q76KP1

Explore proteomics data for B4GALNT4 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn105
  • Modification sites at PhosphoSitePlus

  • See B4GALNT4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_848632.2  
    ENSEMBL proteins: 
     ENSP00000328277   ENSP00000434463   ENSP00000432372  

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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:
    B4GT: Beta 4-glycosyltransferases

    2 InterPro protein domains:
     IPR011658 PA14
     IPR008428 Chond_GalNAc

    Graphical View of Domain Structure for InterPro Entry Q76KP1

    ProtoNet protein and cluster: Q76KP1

    1 Blocks protein domain: IPB011658 PA14

    UniProtKB/Swiss-Prot: B4GN4_HUMAN, Q76KP1
    Similarity: Belongs to the chondroitin N-acetylgalactosaminyltransferase family


    Find genes that share domains with B4GALNT4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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: B4GN4_HUMAN, Q76KP1
    Function: Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a
    beta-1,4-linkage to form N,N'-diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and
    probably O-linked glycans
    Catalytic activity: UDP-N-acetyl-alpha-D-galactosamine + N-acetyl-beta-D-glucosaminyl group = UDP +
    N-acetyl-beta-D-galactosaminyl-(1->4)-N-acetyl-beta-D-glucosaminyl group

         Enzyme Number (IUBMB): EC 2.4.1.2441

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008376acetylgalactosaminyltransferase activity IDA15044014
    GO:0016758transferase activity, transferring hexosyl groups ----
    GO:0033842N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity IEA--
         
    Find genes that share ontologies with B4GALNT4           About GenesLikeMe


    Animal Models:
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    (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
    B4GN4_HUMAN, Q76KP1: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    cytoskeleton1
    endoplasmic reticulum1
    extracellular1
    lysosome1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--
    GO:0032580Golgi cisterna membrane IEA--

    Find genes that share ontologies with B4GALNT4           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for B4GALNT4
    Interactions:

        Search GeneGlobe Interaction Network for B4GALNT4

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008152metabolic process IDA15044014

    Find genes that share ontologies with B4GALNT4           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 Tocris compounds for B4GALNT4 (B4GN4)

    2 HMDB Compounds for B4GALNT4    About this table
    CompoundSynonyms CAS #PubMed Ids
    N-Acetylgalactosamine2-Acetamido-2-desoxy-b-D-talofuranose (see all 113)1811-31-0--
    Uridine diphosphate-N-acetylgalactosamineUDP-N-acetyl-D-galactosamine (see all 17)7277-98-7--



    (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 B4GALNT4 gene: 
    NM_178537.4  

    Unigene Cluster for B4GALNT4:

    Beta-1,4-N-acetyl-galactosaminyl transferase 4
    Hs.148074  [show with all ESTs]
    Unigene Representative Sequence: NM_178537
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000530717 ENST00000329962(uc001lpb.3) ENST00000524443 ENST00000526584
    ENST00000534778
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    hsa-miR-579 hsa-miR-1298 hsa-miR-513a-3p hsa-miR-27a hsa-miR-513a-5p hsa-miR-589* hsa-miR-1324 hsa-miR-4282
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    Additional mRNA sequence: 

    AB089939.1 AK057774.1 BC131528.1 

    5 DOTS entries:

    DT.40257662  DT.100749706  DT.100023210  DT.100749707  DT.95262150 

    Selected AceView cDNA sequences (see all 68):

    AI870328 NM_178537 AI216466 BM931362 BM845019 AA326392 BM975059 AI378310 
    AI287702 BM672962 AI051625 AI276827 AB089939 BF059094 BM724766 BI822361 
    BM843019 BM842253 BF516157 AI814432 BF115668 BX115728 AW297264 AI568514 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for B4GALNT4    About this scheme

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


    ECgene alternative splicing isoforms for B4GALNT4

    (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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    B4GALNT4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGAGCGTCC
    B4GALNT4 Expression
    About this image


    B4GALNT4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
     
     Ovary (Reproductive System)
    B4GALNT4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    B4GALNT4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.148074

    UniProtKB/Swiss-Prot: B4GN4_HUMAN, Q76KP1
    Tissue specificity: Highly expressed in ovary, adult and fetal brain. Also expressed in fetal kidney and lung

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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 animals.

    Orthologs for B4GALNT4 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia B4galnt41 , 5 beta-1,4-N-acetyl-galactosaminyl transferase 41, 5 81.34(n)1
    85.2(a)1
      7 (86.32 cM)5
    3306711  NM_177897.31  NP_808565.21 
     1410612745 
    chicken
    (Gallus gallus)
    Aves B4GALNT41 beta-1,4-N-acetyl-galactosaminyl transferase 4 68.79(n)
    66.26(a)
      770601  XM_001233940.3  XP_001233941.3 
    lizard
    (Anolis carolinensis)
    Reptilia B4GALNT46
    beta-1,4-N-acetyl-galactosaminyl transferase 4
    63(a)
    1 ↔ 1
    1(76669153-76727202)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.22082 Xenopus laevis transcribed sequence with moderate similarity more 75.34(n)    BQ725566.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5593051 N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase more 66.19(n)
    67.1(a)
      559305  XM_682637.4  XP_687729.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG433136
    --
    12(a)
    1 → many
    X(12990125-13006475)
    worm
    (Caenorhabditis elegans)
    Secernentea mig-226
    Protein MIG-22, isoform a
    12(a)
    1 → many
    III(8763291-8767342) WBGene00003253


    ENSEMBL Gene Tree for B4GALNT4 (if available)
    TreeFam Gene Tree for B4GALNT4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for B4GALNT4 gene
    CSGALNACT12  CHSY32  CHPF2  B4GALNT32  CSGALNACT22  CHSY12  CHPF22  
    1 SIMAP similar gene for B4GALNT4 using alignment to 4 protein entries:     B4GN4_HUMAN (see all proteins):
    B4GALNT3

    Find genes that share paralogs with B4GALNT4           About GenesLikeMe



    (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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    Selected SNPs for B4GALNT4 (see all 488)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1507219531,2
    C--367812(+) GCTCAC/TGCCTG 1 -- us2k10--------
    rs109021411,2
    C,A,H--367818(+) GCCTGG/AAATCC 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1880763051,2
    --367842(+) GGCCAA/GGGCGG 1 -- us2k10--------
    rs1495415061,2
    --367875(+) TTCAAC/TGCCAG 1 -- us2k10--------
    rs734005201,2
    C,F--367891(+) GACACA/CTGGTG 1 -- us2k12Minor allele frequency- C:0.08WA 120
    rs1927862451,2
    --368000(+) TCGCTG/TGAGCC 1 -- us2k10--------
    rs1844760521,2
    --368046(+) CACTGC/TACTCT 1 -- us2k10--------
    rs1153355111,2
    F--368055(+) CTAGCC/ATCAGA 1 -- us2k11Minor allele frequency- A:0.04WA 118
    rs747748291,2
    F--368065(+) AGACAC/G/TAGTGA 1 -- us2k11WA 118
    rs1441038701,2
    C--368209(+) GTTTAA/GGGGCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for B4GALNT4 (369795 - 382117 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for B4GALNT4 (see all 21):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv182e199CNV Deletion23128226
    esv1612736CNV Deletion17803354
    esv990569CNV Deletion20482838
    dgv923n71CNV Loss21882294
    nsv467633CNV Loss19166990
    nsv469923CNV Loss18288195
    dgv918n71CNV Loss21882294
    dgv916n71CNV Loss21882294
    dgv922n71CNV Loss21882294
    nsv896488CNV Loss21882294

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    (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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      --

    (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 B4GALNT4 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with B4GALNT4)
        Utopia: connect your pdf to the dynamic
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    1. Molecular cloning and characterization of beta1,4-N- acetylgalactosaminyltransferases IV synthesizing N,N'- diacetyllactosediamine. (PubMed id 15044014)1, 2, 3, 9 Gotoh M.... Narimatsu H. (FEBS Lett. 2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Peptide-specific transfer of N-acetylgalactosamine to O-linked glycans by the glycosyltransferases I^1,4-N-acetylgalactosaminyl transferase 3 (I^4GalNAc-T3) and I^4GalNAc-T4. (PubMed id 22722940)1 Fiete D....Baenziger J.U. (J. Biol. Chem. 2012)
    4. Molecular basis for protein-specific transfer of N-acetylgalactosamine to N-linked glycans by the glycosyltransferases I^1,4-N-acetylgalactosaminyl transferase 3 (I^4GalNAc-T3) and I^4GalNAc-T4. (PubMed id 22722937)1 Fiete D....Baenziger J.U. (J. Biol. Chem. 2012)
    5. Global analysis of host-pathogen interactions that regulate early-stage HIV-1 replication. (PubMed id 18854154)1 KAPnig R....Chanda S.K. (Cell 2008)
    6. A necessary and sufficient determinant for protein-selective glycosylation in vivo. (PubMed id 18048353)1 Miller E....Baenziger J.U. (J. Biol. Chem. 2008)
    7. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (Nat. Biotechnol. 2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. Apical Golgi localization of N,N'-diacetyllactosediamine synthase, beta4GalNAc-T3, is responsible for LacdiNAc expression on gastric mucosa. (PubMed id 16728562)9 Ikehara Y.... Narimatsu H. (Glycobiology 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 338707 HGNC: 26315 AceView: Beta4GalNAc-T4 Ensembl:ENSG00000182272 euGenes: HUgn338707
    ECgene: B4GALNT4 H-InvDB: B4GALNT4

    (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 B4GALNT4 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B4GALNT4

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for B4GALNT4 gene:
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    GeneCards and IP:
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