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B4GALNT1 Gene

protein-coding   GIFtS: 54

GC12M056306
beta-1,4-N-acetyl-galactosaminyl transferase 1
(Previous names: UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T), UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: GALGT)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
(N-acetylneuraminyl)-galactosylglucosylceramide 3
EC 2.4.1.92 3
GALGT 2, 3
GALNACT 2
GalNAc-T 2, 3
SIAT2 3
beta1,4GalNAc-T 2
beta1-4GalNAc-T 1, 2
Descriptions
GD2 synthase, GM2 synthase 2
GM2/GD2 synthase 3
UDP-Gal:betaGlcNAc
beta-1,4-N-acetylgalactosaminyltransferase transferase 1 1, 2
UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide
N-acetylgalactosaminyltransferase (GalNAc-T) 1, 2
beta-1,4-N-acetyl-galactosaminyl transferase 1 2
External Ids
HGNC: 41171
Entrez Gene: 25832
UniProtKB: Q009733
Ensembl: ENSG000001354547
Search outside databases for aliases for B4GALNT1 gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene 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. [provided by RefSeq]

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

Gene Wiki entry for B4GALNT1

(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 B4GALNT1 gene  

Entrez Gene cytogenetic band: 12q13.3   Ensembl cytogenetic band:  12q14.1   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)

GeneLoc gene densities for chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M056306:     (about GC identifiers)

Start:
56,305,818 bp from pter
End:
56,313,252 bp from pter
Size:
7,435 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000012.10  NT_029419.11  
(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: 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

REFSEQ proteins: NP_001469.1  

ENSEMBL proteins: 
ENSP00000341562 


Human Recombinant Proteins 
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Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (B4GALNT1)
Human Recombinant Proteins from Abnova (B4GALNT1)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0000139 Golgi membrane IEA--
GO:0005624 membrane fraction TAS1601877
GO:0005794 Golgi apparatus IEA--
GO:0016020 membrane IEA--
GO:0016021 integral to membrane IEA--
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Antibodies for B4GALNT1: 
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Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for B4GALNT1
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Antibodies from Abcam (B4GALNT1), each with their AbpromiseSM
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Novus Biologicals Antibodies for B4GALNT1

Assays for B4GALNT1: 
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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:
 IPR001173 Glyco_trans_2
 IPR011143 GM2_synthase


   GeneDecks  B4GALNT1 for the domains selected above  
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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

(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 (B4GALNT1)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (B4GALNT1)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001478

              Applied Biosystems Silencer® siRNAs for B4GALNT1

              Sigma-Aldrich siRNA for B4GALNT1  
                     Sigma-Aldrich shRNA for B4GALNT1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for B4GALNT1
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001478
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_001478
                                 untagged cDNA clone in CMV expression vector: NM_001478 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_001478

UniProtKB/Swiss-Prot: B4GN1_HUMAN, Q00973
Function: Involved in the biosynthesis of gangliosides GM2, GD2 and GA2
Catalytic activity: UDP-N-acetyl-D-galactosamine +
1-O-(O-(N-acetyl-alpha-neuraminosyl)-(2->3)-O-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranosyl)-ceramide
= UDP +
1-O-(O-2-(acetylamino)-2-deoxy-beta-D-galactopyranosyl-(1->4)-O-(N-acetyl-alpha-neuraminosyl-(2->3))-O-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranosyl)-ceramide
Enzyme Number (IUBMB): EC 2.4.1.92 

8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for B4galnt1):

behavior/neurologicalendocrine/exocrine glandhematopoietic systemimmune systemlife span-post-weaning/aging
nervous systemrenal/urinary systemreproductive system

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

GO IDQualified GO termEvidencePubMed IDs
GO:0003947 (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity TAS8702839
GO:0016758 transferase activity, transferring hexosyl groups 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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1 Invitrogen iPath™ Online BioAtlas - Pathway for B4GALNT1 (Maps provided by GeneGo):
 Sphingolipid metabolism

   GeneDecks  B4GALNT1 for the pathways selected above  
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for  B4GALNT1  (Your Favorite Gene powered by Ingenuity) 
 Glycosphingolipid Biosynthesis - Ganglioseries

   GeneDecks  B4GALNT1 for the pathways selected above  
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1 Kegg Pathway  (Kegg details for B4GALNT1):
 hsa00604 Glycosphingolipid biosynthesis - ganglio series

   GeneDecks  B4GALNT1 for the pathways selected above  
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UniProtKB/Swiss-Prot: B4GN1_HUMAN, Q00973
Pathway: Protein modification; protein glycosylation


5/25 Interacting proteins for B4GALNT1 (ENSP000003415623) via UniProtKB, MINT, and/or STRING (see all 25 )

InteractantInteraction Details
GeneCardExternal ID(s)
ST8SIA1ENSP000002611973STRING (score=.972)
CHPFENSP000002437763STRING (score=.968)
ST3GAL5ENSP000003665493STRING (score=.955)
GALNT1ENSP000002691953STRING (score=.947)
GBGT1ENSP000003611133STRING (score=.92)
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5 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0001574 ganglioside biosynthetic process IEA--
GO:0005975 carbohydrate metabolic process TAS1601877
GO:0006687 glycosphingolipid metabolic process TAS1601877
GO:0019915 lipid storage IEA--
GO:0030259 lipid glycosylation IEA--
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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)
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Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for B4GALNT1
3 Novoseek chemical compound relationships for B4GALNT1 gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
asialo gm2 83.41 2 7890749 (1), 8737246 (1)
ganglioside 81.49 8 9639544 (1), 7533654 (1), 9930722 (1), 10820196 (1) (see all 5)
tyrosine 4.47 2 18520032 (1), 16384890 (1)
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(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 (B4GALNT1)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (B4GALNT1)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001478

              Sigma-Aldrich siRNA for B4GALNT1  
                     Sigma-Aldrich shRNA for B4GALNT1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_001478  

REFSEQ mRNAs for B4GALNT1 gene: 

NM_001478.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_001478  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001478
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_001478
                                 untagged cDNA clone in CMV expression vector: NM_001478 

Additional cDNA sequence: 

AB209460.1 AK127448.1 AK289690.1 AK293432.1 AK299845.1 AK302503.1 BC029828.1 CR610248.1 
CR622992.1 M83651.1 

10 DOTS entries:

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

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

CK300234 CA431063 BE547617 BM827399 BQ943591 BM740142 CR622992 M83651 
CB154451 BU615671 AI913075 CR610248 BQ647977 BU632715 AL520907 BC029828 
AI360246 AI084079 AA779389 BM758410 BU634463 BI824495 R48319 BI915530 

highest scoring ESTs for B4GALNT1:

M83651 AI497617 BC029828 BI757908 BI824495 BI824524 BI915530 BM807649 BM921444 BM922063 

Unigene Cluster for B4GALNT1:

Beta-1,4-N-acetyl-galactosaminyl transferase 1
Hs.591019  [show with all ESTs]
Unigene Representative Sequence: AB209460


GeneLoc Exon Structure

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

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:      

About this scheme

ECgene alternative splicing isoforms for B4GALNT1

1 Ensembl transcript including schematic representation:
ENST00000341156  
(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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B4GALNT1 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for B4GALNT1

1 / 2 / 3

5 probe-sets matching B4GALNT1 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
51917_at2, 3 U95-C 1 1.00 1.00 0.97 1.35 AI497617 0.80 1.00 0.91 1

38212_at2, 3 U95-A 1 0.62 1.00 0.93 0.66 M83651 1.00 1.00 1.00 1

206435_at2, 3 U133-A 1 1.00 1.00 -- -- NM_001478 0.60 1.00 0.82 1

1555385_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

206435_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  B4GALNT1 for binary patterns associated with the probe-sets selected above  
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Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: GGGATAAAAT

SOURCE GeneReport for Unigene cluster: Hs.591019
(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)
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Orthologs for B4GALNT1 gene from 5/8 species (see all 8 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
B4GALNT11   -- beta-1,4-N-acetyl-galactosaminyl transferase 1 89.81(n)
92.68(a)
481129  XM_538250.2  XP_538250.2 
chimpanzee
(Pan troglodytes)
B4GALNT11   -- beta-1,4-N-acetyl-galactosaminyl transferase 1 99.69(n)
99.81(a)
452021  XM_509169.2  XP_509169.2 
cow
(Bos taurus)
B4GALNT11   -- beta-1,4-N-acetyl-galactosaminyl transferase 1 88.93(n)
90.99(a)
520159  NM_001017943.1  NP_001017943.1 
rat
(Rattus norvegicus)
B4galnt11   -- beta-1,4-N-acetyl-galactosaminyl transferase 1 84.55(n)
87.62(a)
64828  NM_022860.2  NP_074051.1 
mouse
(Mus musculus)
B4galnt11, 5 10 (69.25 cM)5
beta-1,4-N-acetyl-galactosaminyl transferase 11, 5 84.8(n)1
86.87(a)1
144211  NM_008080.41  NP_032106.11 
 AK0169785  AK0403245  (see all 13)
About this table        Species with no ortholog for B4GALNT1

ENSEMBL Gene Tree for B4GALNT1
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
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Paralogs for B4GALNT1 gene
B4GALNT22  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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10/55 NCBI SNPs in B4GALNT1 are shown (see all 55 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 48)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 12 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs7748961,2
A,C,F,H56312080(+) AGGTAC/GCCGGA 1 L/V mis1 ese35Minor allele frequency- G:0.37MN EA WA 530
rs7748991,2
A,C,F,H56313348(+) AGCCTC/TCAAAC 1 -- ng319Minor allele frequency- T:0.21MN EU EA WA NA 950
rs174546741,2
C,F,H56306849(+) GTTTGG/ACCATC 1 V/A mis111Minor allele frequency- A:0.01NA EU EA WA 968
rs7748981,2
A,C,F56313053(+) TGCCCG/TGGGGC 1 -- ut51 ese31Minor allele frequency- T:0.20MN 184
--
rs65811471,2
A,C56315130(+) aaatgC/Ttcccc 1 -- ng310--------
rs8102051,2
F,H56310545(+) CTGACC/GAGAAG 1 G/R mis1 ese37Minor allele frequency- G:0.11MN EU EA WA NA 642
rs26194681,2
A,C56313574(+) CCTCTA/CCCCCT 1 -- ng31 trp30--------
--
rs38996761,2
A56314183(+) gcaagA/Gtggct 1 -- ng310--------
--
rs125785871,2
C56315013(+) tattcC/Gttgca 1 -- ng310--------
--
rs43978941,2
A56314316(+) ctgtcC/Tcaaaa 1 -- ng310--------
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HapMap Linkage Disequilibrium images for B4GALNT1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 601873

7 Novoseek disease relationships for B4GALNT1 gene

Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
melanoma 31.76 3 9930722 (1), 7487055 (1), 17634536 (1)
gastric cancer 26.17 3 11914601 (1), 7533654 (1)
colon cancer 15.01 1 11914601 (1)
cancer lung 2.27 1 11914601 (1)
breast cancer 0.37 2 11914601 (1), 17634536 (1)
cancer 0.00 8 11914601 (4), 17634536 (1)
carcinoma 0.00 2 11914601 (1), 7533654 (1)
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Human Genome Epidemiology Navigator: B4GALNT1 (1 document)

(Possibly Related Articles in Doctor's Guide)
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  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
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10/42 PubMed articles for B4GALNT1 gene (see all 42 ):
(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: 2583 HGNC: 4117 AceView: GALGT Ensembl:ENSG00000135454 euGenes: HUgn2583
ECgene: B4GALNT1 H-InvDB: B4GALNT1
(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)
About This Section

NameDescription
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
(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 B4GALNT1:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



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B4GALNT1 Gene at Home site.
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