B4GALT1 Gene
protein-coding GIFtS: 67
GCID: GC09M033100
|
|
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide...
(Previous symbol: GGTB2)
| |
Aliases
for B4GALT1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase, Polypeptide 11 2 | | GTB2 5 | | GGTB21 2 3 5 | | B4GAL-T12 | | Beta4Gal-T13 | | Beta-1,4-Galactosyltransferase 12 | | Beta-1,4-GalTase 12 3 | | Glycoprotein-4-Beta-Galactosyltransferase 22 | | UDP-Gal:Beta-GlcNAc Beta-1,4-Galactosyltransferase 12 3 | | Lactose Synthase2 | | UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,4-Galactosyltransferase 12 3 | | Beta4Gal-T13 | | CDG2D2 5 | | EC 2.4.1.-3 | | GT12 5 | | B4Gal-T11 |
Export aliases for B4GALT1 gene to outside databasesPrevious GC identifers: GC09M033422 GC09M033280 GC09M033094 |
Summaries
for B4GALT1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for B4GALT1:
This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-boundglycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactosein a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in thebiosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have anN-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remainsuncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene is unique among thebeta4GalT genes because it encodes an enzyme that participates both in glycoconjugate and lactose biosynthesis. Forthe first activity, the enzyme adds galactose to N-acetylglucosamine residues that are either monosaccharides or thenonreducing ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary tissueswhere the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose + D-glucose <
UniProtKB/Swiss-Prot: B4GT1_HUMAN, P15291Function: The Golgi complex form catalyzes the production of lactose in the lactating mammary gland and could also beresponsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as thecarbohydrate moieties of glycolipidsFunction: The cell surface form functions as a recognition molecule during a variety of cell to cell and cell to matrixinteractions, as those occurring during development and egg fertilization, by binding to specific oligosaccharideligands on opposing cells or in the extracellular matrix
Gene Wiki entry for B4GALT1
|
Genomic Views
for B4GALT1 gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000009.11 NC_018920.1 NT_008413.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the B4GALT1 gene promoter:
Pax-5 NRSF form 1 CUTL1 RelA NF-kappaB NRSF form 2 S8 FOXO4 NF-kappaB1
Other transcription factors
Search SABiosciences Chromatin IP Primers for B4GALT1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat B4GALT1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 9p13 Ensembl cytogenetic band: 9p21.1 HGNC cytogenetic band: 9p13B4GALT1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09M033100: view genomic region
(about GC identifiers)
Start:
|
33,104,080 bp from pter |
End:
|
33,167,356 bp from pter |
Size:
|
63,277 bases |
Orientation:
|
minus strand |
|
Proteins
for B4GALT1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: B4GT1_HUMAN, P15291 (See
protein sequence)Recommended Name: Beta-1,4-galactosyltransferase 1 Size: 398 amino acids; 43920 Da
Cofactor: Manganese (By similarity)
Subunit: Homodimer; and heterodimer with alpha-lactabulmin to form lactose synthase
Subcellular location: Isoform Long: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Cellmembrane; Single-pass type II membrane protein. Cell surface. Note=Found in trans cisternae of Golgi
Subcellular location: Isoform Short: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein.Note=Found in trans cisternae of Golgi
Subcellular location: Processed beta-1,4-galactosyltransferase 1: Secreted. Note=Soluble form found in body fluids
6/16 PDB 3D structures from  and Proteopedia  for B4GALT1 (see all 16):2AE7 (3D)
2AEC (3D)
2AES (3D)
2AGD (3D)
2AH9 (3D)
2FY7 (3D)
Secondary accessions: B2R710 D3DRL2 Q12909 Q12910 Q12911 Q14456 Q14509 Q14523Alternative initiation: 2 isoforms: P15291-1 P15291-2 Explore the universe of human proteins at neXtProt for B4GALT1: NX_P15291
Post-translational modifications:
The soluble form derives from the membrane forms by proteolytic processing1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P15291
B4GALT1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001488.2
ENSEMBL proteins: ENSP00000369055 ENSP00000440341 ENSP00000445037 Reactome Protein details: P15291
Human Recombinant Protein Products for B4GALT1:
Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13): About this table
B4GALT1 for ontologies About GeneDecksing
B4GALT1 Antibody Products:
Assay Products for B4GALT1: |
Protein
Domains /
Families
for B4GALT1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
B4GALT1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry P15291ProtoNet protein and cluster: P15291 1 Blocks protein family: IPB003859 Metazoa galactosyltransferase
UniProtKB/Swiss-Prot: B4GT1_HUMAN, P15291Similarity: Belongs to the glycosyltransferase 7 family |
Function
for B4GALT1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: B4GT1_HUMAN, P15291Function: The Golgi complex form catalyzes the production of lactose in the lactating mammary gland and could also beresponsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as thecarbohydrate moieties of glycolipidsFunction: The cell surface form functions as a recognition molecule during a variety of cell to cell and cell to matrixinteractions, as those occurring during development and egg fertilization, by binding to specific oligosaccharideligands on opposing cells or in the extracellular matrixCatalytic activity: UDP-alpha-D-galactose + D-glucose = UDP + lactoseCatalytic activity: UDP-alpha-D-galactose + N-acetyl-beta-D-glucosaminylglycopeptide = UDP +beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminylglycopeptideCatalytic activity: UDP-alpha-D-galactose + N-acetyl-D-glucosamine = UDP + N-acetyllactosamine Genatlas biochemistry entry for B4GALT1:UDP galactose
Enzyme Number (IUBMB): EC 2.4.1.-1
Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11): About this table
B4GALT1 for ontologies About GeneDecksing
Phenotypes:
2 GenomeRNAi human phenotypes for B4GALT1:
14 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for B4galt1):
B4GALT1 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-outs for B4GALT1: B4galt1tm1Yiw B4galt1tm1Shur
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for B4GALT1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for B4GALT1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: B4GALT1 (NM_001497) | |  | Sino Biological Human cDNA Clone for B4GALT1 | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for B4GALT1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat B4GALT1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for B4GALT1 |
|
Pathways & Interactions
for B4GALT1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/13 super-pathways (see all 13) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | MPS IIIC - Sanfilippo syndrome C | | | 2 | Asparagine N-linked glycosylation | | | 3 | N-glycan antennae elongation in the medial/trans-Golgi | | | 4 | Keratan sulfate biosynthesis | | | 5 | Galactose metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for B4GALT1
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for B4GALT1
1  GeneGo (Thomson Reuters) Pathway for B4GALT1
5/28 
Reactome Pathways for B4GALT1 (see all 28)
5/6 
Kegg Pathways (Kegg details for B4GALT1) (see all 6):
UniProtKB/Swiss-Prot: B4GT1_HUMAN, P15291Pathway: Protein modification; protein glycosylation
B4GALT1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for B4GALT1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/34 Interacting proteins for B4GALT1 (P152912, 3 ENSP000003690554) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
About this table
Gene Ontology (GO): 5/33 biological process terms (GO ID links to tree view) (see all 33): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0002064 | epithelial cell development |
IEA | -- | | GO:0002526 | acute inflammatory response |
IEA | -- | | GO:0005975 | carbohydrate metabolic process |
TAS | -- | | GO:0005989 | lactose biosynthetic process |
IEA | -- | | GO:0006012 | galactose metabolic process |
IEA | -- |
B4GALT1 for ontologies About GeneDecksing
|
Drugs & Compounds
for B4GALT1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
B4GALT1 for compounds About GeneDecksing
 Browse Tocris compounds for B4GALT1
7 HMDB Compounds for B4GALT1 About this table
6 DrugBank Compounds for B4GALT1 About this table
3 Novoseek chemical compound relationships for B4GALT1 gene About this table
Search CenterWatch for drugs/clinical trials and news about B4GALT1 / B4GT1
|
Transcripts
for B4GALT1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for B4GALT1 gene: NM_001497.3 Unigene Cluster for B4GALT1: UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 Hs.272011 [show with all ESTs]Unigene Representative Sequence: NM_0014973 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000379731(uc003zsg.2) ENST00000535206 ENST00000541851
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for B4GALT1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for B4GALT1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: B4GALT1 (NM_001497) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for B4GALT1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat B4GALT1 |
Additional cDNA sequence: AK296928.1 AK297541.1 AK312797.1 AK316294.1 AY864848.1 BC034244.1 BC035442.1 BC045773.1 BX648438.1 D29805.1 M13701.1 M22921.1 U10472.1 U10473.1 U10474.1 X13223.1 X14085.1 X55415.1 19 DOTS entries: DT.121173829 DT.95089742 DT.219288 DT.101979287 DT.100815702 DT.100790115 DT.92437322 DT.121173860 DT.40211585 DT.40117036 DT.121173861 DT.92031765 DT.87016500 DT.121173823 DT.121173847 DT.121173851 DT.91788853 DT.92437309 DT.92437321 24/608 AceView cDNA sequences (see all 608): BU538031 NM_018225 AW024326 BU196325 BQ691342 AA223226 BP358101 AI291133 BU857100 BQ436287 CA455316 BP336085 BM784021 BM930878 T54678 BM718681 CA390750 BM717770 AU132900 AI305243 BM756870 AW612271 BF109989 AI539434
GeneLoc Exon Structure
|
Expression
for B4GALT1 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| B4GALT1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCCCAGAGAC
About this image
See B4GALT1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for B4GALT1
SOURCE GeneReport for Unigene cluster: Hs.272011
UniProtKB/Swiss-Prot: B4GT1_HUMAN, P15291Tissue specificity: Ubiquitously expressed, but at very low levels in fetal and adult brain
SABiosciences Expression via Pathway-Focused PCR Array including B4GALT1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for B4GALT1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat B4GALT1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat B4GALT1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat B4GALT1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for B4GALT1 |
Orthologs
for B4GALT1 gene
(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)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for B4GALT1 gene from 5/19 species (see all 19) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
B4GALT11 |
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, more |
68.55(n)
71.19(a) |
|
396121 NM_205202.1 NP_990533.1 |
lizard
(Anolis carolinensis) |
Reptilia |
B4GALT16 |
-- |
71(a) |
1 ↔ 1 |
GL343257.1(177052-214168) |
zebrafish
(Danio rerio) |
Actinopterygii |
zgc:1541161 |
zgc:154116 |
63.92(n)
62.06(a) |
|
768123 NM_001077259.2 NP_001070727.2 |
fruit fly
(Drosophila melanogaster) |
Insecta |
BcDNA:GH133563 |
beta-N-acetylglucosaminyl-glycopeptide
beta-1,4-galactosyltransferase |
38(a)
(best of 2) |
|
50E6 -- |
worm
(Caenorhabditis elegans) |
Secernentea |
Y73E7A.73 |
-- |
44(a)
(best of 2) |
|
I(1621527-1626606) -- |
ENSEMBL Gene Tree for B4GALT1 (if available)
TreeFam Gene Tree for B4GALT1 (if available) |
Paralogs
for B4GALT1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for B4GALT1 gene
- B4GALT52 B4GALT22 B4GALT72 B4GALT42 B4GALT62 B4GALT32
5 SIMAP similar genes for B4GALT1 using alignment to 3 protein entries: B4GT1_HUMAN (see all proteins):B4GALT2 B4GALT3 B4GALT4 B4GALT5 B4GALT6
B4GALT1 for paralogs About GeneDecksing
|
Genomic Variants
for B4GALT1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 9 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for B4GALT1 (33104080 - 33167356 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for B4GALT1: --
Human Gene Mutation Database (HGMD): B4GALT1
Locus Specific Mutation Databases (LSDB): B4GALT1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing B4GALT1 |
|
Disorders
/ Diseases
for B4GALT1 gene
(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.)
About This Section
|
B4GALT1 for disorders About GeneDecksing
OMIM gene information: 137060
OMIM disorders: 607091
UniProtKB/Swiss-Prot: B4GT1_HUMAN, P15291
Defects in B4GALT1 are the cause of congenital disorder of glycosylation type 2D (CDG2D) [MIM:607091]. CDGsare a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized byunder-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, suchas disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulationdisorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins duringembryonic development, differentiation, and maintenance of cell functions
9  diseases for B4GALT1: About MalaCardscongenital disorder of glycosylation type 2d congenital disorder of glycosylation progeria rheumatoid arthritis
teratocarcinoma hypotonia arthritis lung cancer
immunodeficiency
GeneTests: B4GALT1
Congenital Disorders of Glycosylation
Human Genome Epidemiology (HuGE) Navigator: B4GALT1 (2 documents)
Export disorders for B4GALT1 gene to outside databases
|
Publications
for B4GALT1 gene (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)
About This Section
|
PubMed articles for B4GALT1 gene, integrated from 9 sources (see all 87):
(articles sorted by number of sources associating them with B4GALT1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Oligosaccharide preferences of beta1,4-galactosyltransferase-I: crystal structures of Met340His mutant of human beta1,4-galactosyltransferase-I with a pentasaccharide and trisaccharides of the N-glycan moiety. (PubMed id 16157350)1, 7, 9 Ramasamy V....Qasba P.K. (2005)
- DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
- Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions. (PubMed id 10580128)1, 2 Amado M.... Clausen H. (1999)
- The expanding beta 4-galactosyltransferase gene family: messages from the databanks. (PubMed id 9597550)1, 3 Lo N.-W.... Shaper N.L. (1998)
- Golgi retention mechanism of beta-1,4-galactosyltransferase. Membrane-spanning domain-dependent homodimerization and association with alpha- and beta-tubulins. (PubMed id 7744867)1, 2 Yamaguchi N. and Fukuda M.N. (1995)
- The beta 1, 4-galactosyltransferase gene is post-transcriptionally regulated during differentiation of mouse F9 teratocarcinoma cells. (PubMed id 7579794)1, 2 Kudo T. and Narimatsu H. (1995)
- Analysis of the sequences of human beta-1,4-galactosyltransferase cDNA clones. (PubMed id 7540104)1, 2 Chatterjee S.K.... Tripathi P.K. (1995)
- Complementary DNA cloning for galactosyltransferase associated with tumor and determination of antigenic epitopes recognized by specific monoclonal antibodies. (PubMed id 1384956)1, 2 Uejima T.... Narimatsu H. (1992)
- Genomic structure and expression of human beta-1,4- galactosyltransferase. (PubMed id 1903938)1, 2 Mengle-Gaw L.... Tiemeier D.C. (1991)
- Evidence for a molecular distinction between Golgi and cell surface forms of beta 1,4-galactosyltransferase. (PubMed id 1714903)1, 2 Lopez L.C.... Shur B.D. (1991)
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External Searches for B4GALT1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing B4GALT1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing B4GALT1 gene
(According to HUGE)
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Specialized Databases showing B4GALT1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for B4GALT1 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/B4GALT1 | | 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_436 |
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| Patent Information for B4GALT1 gene:
Search GeneIP for patents involving B4GALT1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for B4GALT1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for B4GALT1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for B4GALT1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for B4GALT1 | | | OriGene Protein Over-expression Lysate for B4GALT1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for B4GALT1 | | OriGene 3'-UTR Clone for B4GALT1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for B4GALT1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for B4GALT1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for B4GALT1 | | OriGene Custom Protein Services for B4GALT1 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat B4GALT1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing B4GALT1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat B4GALT1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat B4GALT1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat B4GALT1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat B4GALT1 |
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| | | | Search Tocris compounds for B4GALT1 |
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 | | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for B4GALT1 |
|  |  |  |  | | | | Search ThermoFisher Antibodies for B4GALT1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat B4GALT1 |
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