B4GALNT1 Gene
protein-coding GIFtS: 54
GC12M056306
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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)
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Aliases & Descriptions for B4GALNT1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
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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 |
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| | Search outside databases for aliases for B4GALNT1 gene |
Summaries for B4GALNT1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| 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, Q00973Function: Involved in the biosynthesis of gangliosides GM2, GD2 and GA2Gene Wiki entry for B4GALNT1 |
Genomic Location 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) About This Section
| 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: 12q13.3B4GALNT1 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:
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56,305,818 bp from pter |
End:
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56,313,252 bp from pter |
Size:
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7,435 bases |
Orientation:
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minus strand |
RefSeq DNA sequence:- NC_000012.10 NT_029419.11
| Proteins for B4GALNT1
(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)
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 proteinREFSEQ proteins: NP_001469.1
ENSEMBL proteins: ENSP00000341562
Human Recombinant Proteins 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
): About this table
Antibodies for B4GALNT1: Assays for B4GALNT1: | Protein
Domains/ Families for B4GALNT1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, Q00973Similarity: Belongs to the glycosyltransferase 2 family | Gene Function for B4GALNT1
(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.)
About This Section
|               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 
              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, Q00973Function: Involved in the biosynthesis of gangliosides GM2, GD2 and GA2Catalytic 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)-ceramideEnzyme Number (IUBMB): EC 2.4.1.92 8 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for B4galnt1):
2 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
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| GO:0003947 | (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity |
TAS | 8702839 | | GO:0016758 | transferase activity, transferring hexosyl groups |
IEA | -- | About this table | Pathways & Interactions for B4GALNT1
(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.)
About This Section
| 1 Sigma-Aldrich "Your Favorite Gene" Pathway for B4GALNT1 (Your Favorite Gene powered by Ingenuity) 
UniProtKB/Swiss-Prot: B4GN1_HUMAN, Q00973Pathway: Protein modification; protein glycosylation 5/25 Interacting proteins for B4GALNT1 (ENSP000003415623) via UniProtKB, MINT, and/or STRING (see all 25
)About this table
5 Gene Ontology (GO) biological process terms (links to tree view): About this table
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Drugs & Compounds for B4GALNT1(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
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Browse Tocris compounds for B4GALNT1 3 Novoseek chemical compound relationships for B4GALNT1 gene
About this table
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Transcripts for B4GALNT1(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
|               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
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| 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: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for B4GALNT1
1 Ensembl transcript including schematic representation: ENST00000341156
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Expression for B4GALNT1
(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
)
About This Section
| 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 Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: GGGATAAAAT
SOURCE GeneReport for Unigene cluster: Hs.591019
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Orthologs for B4GALNT1
(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
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Orthologs for B4GALNT1 gene from 5/8 species (see all 8
)
About this table Species with no ortholog for B4GALNT1
ENSEMBL Gene Tree for B4GALNT1 | Paralogs for B4GALNT1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for B4GALNT1 gene
- B4GALNT22
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SNPs/Variants for B4GALNT1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
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HapMap Linkage Disequilibrium images for B4GALNT1 (up to first 250kb)
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Disorders & Mutations for B4GALNT1
(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.)
About This Section
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OMIM: 601873
7 Novoseek disease relationships for B4GALNT1 gene
About this table
Human Genome Epidemiology Navigator: B4GALNT1 (1 document)
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Medical News for B4GALNT1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for B4GALNT1 (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
| 10/42 PubMed articles for B4GALNT1 gene (see all 42
):- Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides. (PubMed id 1601877)2, 3, 4 Nagata Y.... Furukawa K. (1992)
- Disulfide bonds of GM2 synthase homodimers. Antiparallel orientation of the catalytic domains. (PubMed id 11018043)3, 4 Li J.... Young W.W. Jr. (2000)
- Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides. (PubMed id 8120069)3, 4 Nagata Y.... Furukawa K. (1994)
- Glycosyltransferase B4GALNT1 and type 1 diabetes in Croatian population: clinical investigation. (PubMed id 19318031)1, 3 Boraska V....Zemunik T. (2009)
- Evaluation of SAT-1, SAT-2 and GalNAcT-1 mRNA in colon cancer by real-time PCR. (PubMed id 17119850)3 Gornati R....Bernardini G. (2007)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)3 Strausberg R.L....Marra M.A. (2002)
- Brain-specific expression of a novel human UDP-GalNAc:polypeptide N- acetylgalactosaminyltransferase (GalNAc-T9). (PubMed id 10978536)3 Toba S.... Kurosaka A. (2000)
- GA2/GM2/GD2 synthase localizes to the trans-golgi network of CHO-K1 cells. (PubMed id 10477274)3 Giraudo C.G....Maccioni H.J. (1999)
- Genomic organization and chromosomal assignment of the human beta1, 4-N-acetylgalactosaminyltransferase gene. Identification of multiple transcription units. (PubMed id 8702839)3 Furukawa K....Shiku H. (1996)
- Beta1,4-N-acetylgalactosaminyltransferase (GM2 synthase) is released from Golgi membranes as a neuraminidase-sensitive, disulfide-bonded dimer by a cathepsin D-like protease. (PubMed id 8824296)3 Jaskiewicz E....Young W.W. (1996)
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Search for B4GALNT1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing B4GALNT1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing B4GALNT1
(According to HUGE)
About This Section
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Specialized Databases showing B4GALNT1(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
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| Name | Description |
| GGDB | http://riodb.ibase.aist.go.jp/rcmg/ggdb/ | | Functional Glycomics Gateway - GTase | http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_480 |
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| | | About This Section
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| Services for B4GALNT1(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) About This Section
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 Products for B4GALNT1:

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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
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