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Aliases & Descriptions for B3GAT1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases CD57 2 , 5 EC 2.4.1.135 3 GLCATP 2 , 3 , 5 GLCUATP 2 GlcAT-P 1 , 3 GlcUAT-P 3 Glucuronosyltransferase-P 3 HNK-1 1 HNK1 2 , 5 LEU7 2 NK-1 1 , 2 NK1 2
Descriptions Beta-1,3-glucuronyltransferase 1 2 , 3 CD57 antigen 1 LEU7 antigen 2 UDP-GlcUA:glycoprotein beta-1,3-glucuronyltransferase 2 , 3 beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) 2 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 2
Search outside databases for aliases for B3GAT1 genePrevious GC identifers: GC11M136745 GC11M135763 GC11M134281 GC11M133786
Summaries for B3GAT1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for B3GAT1 : The protein encoded by this gene is a member of the glucuronyltransferase gene family. Theseenzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and theiranomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reactionduring the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known asCD57 and LEU7). Alternate transcriptional splice variants have been characterized. [provided byRefSeq] UniProtKB/Swiss-Prot: B3GA1_HUMAN, Q9P2W7 Function : Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on glycoproteins. Can alsoplay a role in glycosaminoglycan biosynthesis. Substrates include asialo-orosomucoid (ASOR),asialo-fetuin, and asialo-neural cell adhesion molecule. Requires sphingomyelin for activity:stearoyl-sphingomyelin was the most effective, followed by palmitoyl-sphingomyelin andlignoceroyl-sphingomyelin. Activity was demonstrated only for sphingomyelin with a saturated fattyacid and not for that with an unsaturated fatty acid, regardless of the length of the acyl group(By similarity)
Gene Wiki entry for B3GAT1
Genomic Location for B3GAT1
(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
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the B3GAT1 gene Entrez Gene cytogenetic band: 11q25 Ensembl cytogenetic band: 11q25 HGNC cytogenetic band: 11q25 B3GAT1 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 11 GeneLoc Exon Structure
GeneLoc location for GC11M133753:
(about GC identifiers )
Start:
133,753,608 bp from pter
End:
133,787,022 bp from pter
Size:
33,415 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000011.8 NT_033899.7 Proteins for B3GAT1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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
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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: B3GA1_HUMAN, Q9P2W7 (See
protein sequence )Recommended Name: Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 Size : 334 amino acids; 38256 Da
Cofactor : Manganese
Subunit : Homodimer (Potential)
Subcellular location : Golgi apparatus membrane; Single-pass type II membrane protein
PDB structures from and Proteopedia : 1V82 (3D)
 1V83 (3D)
 1V84 (3D)
 
Secondary accessions : Q96FS7
REFSEQ proteins (2 alternative transcripts):
NP_061114.2 NP_473366.1 ENSEMBL proteins: ENSP00000307875 ENSP00000376359 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) :
About this table Antibodies for B3GAT1: Assays for B3GAT1:
Protein
Domains/ Families for B3GAT1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q9P2W7 ProtoNet protein and cluster: Q9P2W7
1 Blocks protein family : IPB005027 Glycosyl transferase UniProtKB/Swiss-Prot: B3GA1_HUMAN, Q9P2W7 Similarity : Belongs to the glycosyltransferase 43 family
Gene Function for B3GAT1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
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Clones , and
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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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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_054025 Applied Biosystems Silencer ® siRNAs for B3GAT1 Sigma-Aldrich siRNA for B3GAT1 Sigma-Aldrich shRNA for B3GAT1 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_018644                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_018644                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_018644  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_054025 UniProtKB/Swiss-Prot: B3GA1_HUMAN, Q9P2W7 Function : Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on glycoproteins. Can alsoplay a role in glycosaminoglycan biosynthesis. Substrates include asialo-orosomucoid (ASOR),asialo-fetuin, and asialo-neural cell adhesion molecule. Requires sphingomyelin for activity:stearoyl-sphingomyelin was the most effective, followed by palmitoyl-sphingomyelin andlignoceroyl-sphingomyelin. Activity was demonstrated only for sphingomyelin with a saturated fattyacid and not for that with an unsaturated fatty acid, regardless of the length of the acyl group(By similarity) Catalytic activity : UDP-glucuronate +3-beta-D-galactosyl-4-beta-D-galactosyl-O-beta-D-xylosylprotein = UDP +3-beta-D-glucuronosyl-3-beta-D-galactosyl-4-beta-D-galactosyl-O-beta-D-xylosylprotein Enzyme Number (IUBMB): EC 2.4.1.135
2 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for B3gat1) :5 Gene Ontology (GO) molecular function terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0008499 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity
IEA -- GO:0015018 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity
IEA -- GO:0016740 transferase activity
IEA -- GO:0030145 manganese ion binding
IEA -- GO:0046872 metal ion binding
IEA --
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Pathways & Interactions for B3GAT1
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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5/6 Sigma-Aldrich "Your Favorite Gene" Pathways for B3GAT1 (Your Favorite Gene powered by Ingenuity) (see all 6
) UniProtKB/Swiss-Prot: B3GA1_HUMAN, Q9P2W7 Pathway : Protein modification; protein glycosylation
5/70 Interacting proteins for B3GAT1 (ENSP00000307875 3 ) via UniProtKB, MINT, and/or STRING (see all 70
)About this table 1 Gene Ontology (GO) biological process term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005975 carbohydrate metabolic process
TAS 10783264
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Drugs & Compounds for B3GAT1 (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 Tocris compounds for B3GAT1 10/15 Novoseek chemical compound relationships for B3GAT1 gene (see all 15
)
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Transcripts for B3GAT1(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 ,
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shRNA from
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OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_054025 Sigma-Aldrich siRNA for B3GAT1 Sigma-Aldrich shRNA for B3GAT1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_018644 NM_054025
REFSEQ mRNAs for B3GAT1 gene (2 alternative transcripts): NM_018644.3 NM_054025.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_018644 NM_054025
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_018644                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_018644                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_018644  
Additional cDNA sequence: AB029396.1 AF131769.1 AK299637.1 AL834455.1 BC010466.1 CR457098.1
7 DOTS entries : DT.100747162 DT.447864 DT.100747161 DT.95373074 DT.99935744 DT.120721174 DT.91998612
24/79 AceView cDNA sequences (see all 79
):BE550952 BM702567 BE549719 BE218899 NM_054025 F12927 BE550759 BM722973 T31136 BC010466 AL834455 BE550988 AI457785 CD635532 CD672823 AA339446 N64656 N49234 CR457098 CF454579 NM_018644 BM724399 AI290722 BG910394
highest scoring ESTs for B3GAT1 :AB029396 AI929010 BC010466 BF347683 BQ893484 R46605 AA018091 AA339446 AA339469 AA654526
Unigene Cluster for B3GAT1: Beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) Hs.381050 [show with all ESTs ] Unigene Representative Sequence: BC010466 GeneLoc Exon Structure 4 Alternative Splicing Database (ASD) splice patterns (SP) for B3GAT1 ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b SP1 :                           SP2 :     -                       SP3 :     -     -                   SP4 :                          
About this scheme ECgene alternative splicing isoforms for B3GAT1 2 Ensembl transcripts including schematic representations : ENST00000312527
ENST00000392580
Expression for B3GAT1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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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B3GAT1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for B3GAT1 1 / 2 / 3
3 probe-sets matching B3GAT1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: ATGACCACTGSOURCE GeneReport for Unigene cluster: Hs.381050 UniProtKB/Swiss-Prot: B3GA1_HUMAN, Q9P2W7 Tissue specificity : Mainly expressed in the brain
Orthologs for B3GAT1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for B3GAT1 gene from 5/9 species (see all 9
)
About this table Species with no ortholog for B3GAT1 ENSEMBL Gene Tree for B3GAT1 Paralogs for B3GAT1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for B3GAT1 gene B3GAT3 2 B3GAT2 2
SNPs/Variants for B3GAT1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for B3GAT1 (up to first 250kb)
Disorders & Mutations for B3GAT1
(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: 151290 7 Novoseek disease relationships for B3GAT1 gene
About this table Human Genome Epidemiology Navigator: B3GAT1 (1 document)
Medical News for B3GAT1 (Possibly Related Articles in
Doctor's Guide )
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Publications for B3GAT1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/147 PubMed articles for B3GAT1 gene (see all 147
): Structural basis for acceptor substrate recognition of a human glucuronyltransferase, GlcAT-P, an enzyme critical in the biosynthesis of the carbohydrate epitope HNK-1. (PubMed id 14993226) 1, 3, 4 Kakuda S....Kato R. (2004) Cloning and chromosomal mapping of human glucuronyltransferase involved in biosynthesis of the HNK-1 carbohydrate epitope. (PubMed id 10783264) 1, 3, 4 Mitsumoto Y.... Kawasaki T. (2000) Molecular basis for acceptor substrate specificity of the human beta1,3-glucuronosyltransferases GlcAT-I and GlcAT-P involved in glycosaminoglycan and HNK-1 carbohydrate epitope biosynthesis, respectively. (PubMed id 17567734) 1, 3 Fondeur-Gelinotte M....Fournel-Gigleux S. (2007) Expression of killer cell lectin-like receptor G1 on antigen-specific human CD8+ T lymphocytes during active, latent, and resolved infection and its relation with CD57. (PubMed id 15879103) 1, 3 Ibegbu C.C....Kourtis A.P. (2005) Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046) 3 Saito A....Kamatani N. (2009) Functional implications of HNK-1 expression on invasive behaviour of melanoma cells. (PubMed id 18802400) 3 Casado J.G....Tarazona R. (2008) Proliferation and interleukin 5 production by CD8hi CD57+ T cells. (PubMed id 18383036) 3 Chong L.K....Wang E.C. (2008) Increased expression of CD30 and CD57 molecules on CD4(+) T cells from children with atopic asthma: a preliminary report. (PubMed id 18201430) 3 Rojas-Ramos E....Lascurain R. (2007) Evidence of calcium-dependent pathway in the regulation of human beta1,3-glucuronosyltransferase-1 (GlcAT-I) gene expression: a key enzyme in proteoglycan synthesis. (PubMed id 16807373) 3 Barre L....Ouzzine M. (2006) Characterization of a cytotoxic CD57+ T cell subset from patients with pulmonary tuberculosis. (PubMed id 17035093) 3 Sada-Ovalle I....Lascurain R. (2006)
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Genome Databases showing B3GAT1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing B3GAT1
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Specialized Databases showing B3GAT1 (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/
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-- Services for B3GAT1 (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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Recombinant Proteins (CD57 ) Antibodies (CD57 )
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