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B4GALNT3 Gene

protein-coding   GIFtS: 46

GC12P000440
beta-1,4-N-acetyl-galactosaminyl transferase 3
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
B4GalNac-T3 1
Beta4GalNAc-T3 2, 3
Beta4GalNAcT3 3
EC 2.4.1.244 3
FLJ16224 1, 2
FLJ40362 1, 2
NGalNAc-T2 2, 3
Descriptions
Beta-1,4-N-acetylgalactosaminyltransferase III 3
N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-
acetylgalactosaminyltransferase 2
beta 1,4-N-acetylgalactosaminyltransferase-transferase 3 2
beta-1,4-N-acetyl-galactosaminyl transferase 3 2
External Ids
HGNC: 241371
Entrez Gene: 2833582
UniProtKB: Q6L9W63
Ensembl: ENSG000001390447
Search outside databases for aliases for B4GALNT3 gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for B4GALNT3:
B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form
N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface
N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM]

UniProtKB/Swiss-Prot: B4GN3_HUMAN, Q6L9W6
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. Mediates the
N,N'-diacetyllactosediamine formation on gastric mucosa

(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)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the B4GALNT3 gene  

Entrez Gene cytogenetic band: 12p13.33   Ensembl cytogenetic band:  12p13.33   HGNC cytogenetic band: 12p13.33

B4GALNT3 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 12         GeneLoc Exon Structure

GeneLoc location for GC12P000440:     (about GC identifiers)

Start:
439,804 bp from pter
End:
541,319 bp from pter
Size:
101,516 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000012.10  NT_009759.15  
(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)
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UniProtKB/Swiss-Prot: B4GN3_HUMAN, Q6L9W6 (See protein sequence)
Recommended Name: N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase
2  
Size: 998 amino acids; 114975 Da
Subcellular location: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein.
Note=Localizes to apical Golgi
Secondary accessions: Q6ZNC1 Q8N7T6
Alternative splicing: 2 isoforms:  Q6L9W6-1   Q6L9W6-2   

REFSEQ proteins: NP_775864.3  

ENSEMBL proteins: 
ENSP00000322953 ENSP00000266383 


Human Recombinant Proteins 
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Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (B4GALNT3)
Browse Abnova for Human Recombinant Proteins
                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:0005794 Golgi apparatus IEA--
GO:0016020 membrane IEA--
GO:0016021 integral to membrane IEA--
GO:0032580 Golgi cisterna membrane IEA--
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Antibodies for B4GALNT3: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for B4GALNT3
Browse R&D Systems for Antibodies
Antibodies from Abcam (B4GALNT3), each with their AbpromiseSM
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for B4GALNT3

Assays for B4GALNT3: 
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

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro domains/families:
 IPR008428 Chond_GalNAc
 IPR011658 PA14


   GeneDecks  B4GALNT3 for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry Q6L9W6

ProtoNet protein and cluster: Q6L9W6

1 Blocks protein family: IPB011658 PA14

UniProtKB/Swiss-Prot: B4GN3_HUMAN, Q6L9W6
Similarity: Belongs to the chondroitin N-acetylgalactosaminyltransferase family

(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.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (B4GALNT3)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_173593

              Applied Biosystems Silencer® siRNAs for B4GALNT3

              Sigma-Aldrich siRNA for B4GALNT3  
                     Sigma-Aldrich shRNA for B4GALNT3  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_173593
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_173593
                                 untagged cDNA clone in CMV expression vector: NM_173593 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_173593

UniProtKB/Swiss-Prot: B4GN3_HUMAN, Q6L9W6
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. Mediates the
N,N'-diacetyllactosediamine formation on gastric mucosa
Catalytic activity: UDP-N-acetyl-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 2.4.1.244 

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

GO IDQualified GO termEvidencePubMed IDs
GO:0016740 transferase activity IEA--
GO:0033842 N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity IEA--
About this table

(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.)
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  --
(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 B4GALNT3

(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 (B4GALNT3)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_173593

              Sigma-Aldrich siRNA for B4GALNT3  
                     Sigma-Aldrich shRNA for B4GALNT3  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_173593  

REFSEQ mRNAs for B4GALNT3 gene: 

NM_173593.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_173593  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_173593
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_173593
                                 untagged cDNA clone in CMV expression vector: NM_173593 

Additional cDNA sequence: 

AB089940.1 AK093503.1 AK097681.1 AK131277.1 

9 DOTS entries:

DT.101955455  DT.308970  DT.100019906  DT.92040840  DT.91642367  DT.121126316  DT.75167858  DT.91906001 
DT.95287914 

24/78 AceView cDNA sequences (see all 78 ):

BI520398 BX505733 AX748171 BF002388 BI825677 BX505732 AK093503 BQ447741 
AI460267 BF222703 AI204181 AA911067 BX111532 AI654238 CD642821 AI653170 
AI720529 AI369755 BX505894 AI650840 BI826822 CB216574 AK131277 AW148812 

highest scoring ESTs for B4GALNT3:

AA476456 AA758653 AB089940 AI654238 AK097681 BF970657 BI116830 CB216574 AA299607 AA341190 

Unigene Cluster for B4GALNT3:

Beta-1,4-N-acetyl-galactosaminyl transferase 3
Hs.504416  [show with all ESTs]
Unigene Representative Sequence: AK131277


GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for B4GALNT3

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1:                                                                                                                        
SP2:                                                              -                                                         
SP3:                                                                                                                        
SP4:                                                              -                                                         
SP5:                                                                                                                        

About this scheme

ECgene alternative splicing isoforms for B4GALNT3

2 Ensembl transcripts including schematic representations:
ENST00000322843  ENST00000266383  
(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 )
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B4GALNT3 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for B4GALNT3

1 / 2 / 3

8 probe-sets matching B4GALNT3 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
90422_at2, 3 U95-E 1 1.00 1.00 0.83 1.08 AA476456 0.80 1.00 0.91 1

47639_at2, 3 U95-B 2 1.00 0.94 0.78 0.61 AI654238 0.80 1.00 0.91 1

50345_at2, 3 U95-C 1 0.62 1.00 0.57 1.33 AA758653 0.80 1.00 0.91 1

229909_at2, 3 U133-B 1 1.00 1.00 -- -- AI654238 0.80 1.00 0.91 1

229203_at2, 3 U133-B 1 1.00 1.00 -- -- AI695127 0.60 1.00 0.82 1

229909_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

1553727_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

229203_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  B4GALNT3 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: AAGGACAGAG

SOURCE GeneReport for Unigene cluster: Hs.504416

UniProtKB/Swiss-Prot: B4GN3_HUMAN, Q6L9W6
Tissue specificity: Highly expressed in testis, colon and stomach. Weakly expressed in other
tissues

(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 B4GALNT3 gene from 5/8 species (see all 8 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
B4GALNT31   -- beta-1,4-N-acetyl-galactosaminyl transferase 3 88.67(n)
89.03(a)
486751  XM_543878.2  XP_543878.2 
chimpanzee
(Pan troglodytes)
B4GALNT31   -- beta-1,4-N-acetyl-galactosaminyl transferase 3 99.27(n)
99.2(a)
451738  XM_508918.2  XP_508918.2 
rat
(Rattus norvegicus)
B4galnt31   -- beta-1,4-N-acetyl-galactosaminyl transferase 3 84.01(n)
83.5(a)
500306  XM_575655.2  XP_575655.2 
mouse
(Mus musculus)
B4galnt31, 5 65
beta-1,4-N-acetyl-galactosaminyl transferase 31, 5 85.12(n)1
84.68(a)1
3304061  NM_198884.11  NP_942585.11 
 AB1148265  AK0828745  (see all 7)
chicken
(Gallus gallus)
B4GALNT31   -- beta-1,4-N-acetyl-galactosaminyl transferase 3 75.47(n)
77.02(a)
418150  XM_416381.2  XP_416381.2 
About this table        Species with no ortholog for B4GALNT3

ENSEMBL Gene Tree for B4GALNT3
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for B4GALNT3 gene
B4GALNT42  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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10/916 NCBI SNPs in B4GALNT3 are shown (see all 916 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 240)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 12 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs72987661,2
A,C,F,H531917(+) CATCAA/GGATTG 1 K/R mis114Minor allele frequency- G:0.29EU EA WA NA 1434
rs110635291,2
C,F,H527665(+) GCGACA/GGAACG 1 R/Q mis1 ese312Minor allele frequency- N:0.00EU EA WA NA 1054
rs20750331,2
C,F,H514598(+) GGTACG/AGCAGC 1 S/G mis1 ese312Minor allele frequency- A:0.16EU EA WA 1248
--
rs110635701,2
C,F,H536216(+) TACCCG/AGGCCC 1 Q/R mis1 ese38Minor allele frequency- A:0.07EU EA WA 832
rs360781451,2
C,F540856(-) GGCGAC/TGGCTC 1 R/H mis15Minor allele frequency- T:0.02NA EU EA WA 472
rs25354091,2
A541331(+) GAGCGA/GGGGTG 1 -- ng310--------
rs7587901,2
A,C,F,H532709(+) ATGCTC/TGAGGG 1 L/L syn1 ese316Minor allele frequency- T:0.20NA EA MN EU WA 1736
rs10560081,2
A,C,F,H533099(+) GCCCCT/CGGAAG 1 P/P syn1 ese32Minor allele frequency- C:0.40MN WA 302
rs7481221,2
A,C,F,H,O502661(+) TAATCG/AGTTCT 1 -- int115Minor allele frequency- A:0.08NA EA EU WA 1282
rs2152311,2
A,C,F,H,O464786(+) GCTCAG/ATAGAT 1 -- int112Minor allele frequency- A:0.46EU EA WA NA 1052
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HapMap Linkage Disequilibrium images for B4GALNT3 (up to first 250kb)

(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: 612220

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

  --

(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

7 PubMed articles for B4GALNT3 gene:
(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 283358 HGNC: 24137 AceView: B4GalNac-T3 Ensembl:ENSG00000139044 euGenes: HUgn283358
ECgene: B4GALNT3 H-InvDB: B4GALNT3
(According to HUGE)
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  --
(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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NameDescription
GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/
(Available from WIS Yeda, Salk, Tufts)
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  --
(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)
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Products for B4GALNT3:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



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