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Aliases for B4GALT1 Gene

Aliases for B4GALT1 Gene

  • UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase, Polypeptide 1 2 3
  • GGTB2 3 4 6
  • UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,4-Galactosyltransferase 1 3 4
  • UDP-Gal:Beta-GlcNAc Beta-1,4-Galactosyltransferase 1 3 4
  • Beta-1,4-GalTase 1 3 4
  • Beta4Gal-T1 3 4
  • B4GAL-T1 3 4
  • CDG2D 3 6
  • GT1 3 6
  • GTB 3 6
  • Glycoprotein-4-Beta-Galactosyltransferase 2 3
  • Beta-1,4-Galactosyltransferase 1 3
  • Lactose Synthase 3
  • EC 2.4.1.- 4

External Ids for B4GALT1 Gene

Previous HGNC Symbols for B4GALT1 Gene

  • GGTB2

Previous GeneCards Identifiers for B4GALT1 Gene

  • GC09M033422
  • GC09M033280
  • GC09M033094

Summaries for B4GALT1 Gene

Entrez Gene Summary for B4GALT1 Gene

  • This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene is unique among the beta4GalT genes because it encodes an enzyme that participates both in glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamine residues that are either monosaccharides or the nonreducing ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic forms result from alternate transcription initiation sites and post-translational processing. Two transcripts, which differ only at the 5' end, with approximate lengths of 4.1 kb and 3.9 kb encode the same protein. The longer transcript encodes the type II membrane-bound, trans-Golgi resident protein involved in glycoconjugate biosynthesis. The shorter transcript encodes a protein which is cleaved to form the soluble lactose synthase. [provided by RefSeq, Jul 2008]

GeneCards Summary for B4GALT1 Gene

B4GALT1 (UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase, Polypeptide 1) is a Protein Coding gene. Diseases associated with B4GALT1 include congenital disorder of glycosylation, type iid and hutchinson-gilford progeria. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include protein homodimerization activity and beta-tubulin binding. An important paralog of this gene is B4GALT7.

UniProtKB/Swiss-Prot for B4GALT1 Gene

  • The Golgi complex form catalyzes the production of lactose in the lactating mammary gland and could also be responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids

  • The cell surface form functions as a recognition molecule during a variety of cell to cell and cell to matrix interactions, as those occurring during development and egg fertilization, by binding to specific oligosaccharide ligands on opposing cells or in the extracellular matrix

Gene Wiki entry for B4GALT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B4GALT1 Gene

Genomics for B4GALT1 Gene

Regulatory Elements for B4GALT1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for B4GALT1 Gene

Start:
33,104,082 bp from pter
End:
33,167,358 bp from pter
Size:
63,277 bases
Orientation:
Minus strand

Genomic View for B4GALT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for B4GALT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B4GALT1 Gene

Proteins for B4GALT1 Gene

  • Protein details for B4GALT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15291-B4GT1_HUMAN
    Recommended name:
    Beta-1,4-galactosyltransferase 1
    Protein Accession:
    P15291
    Secondary Accessions:
    • B2R710
    • D3DRL2
    • Q12909
    • Q12910
    • Q12911
    • Q14456
    • Q14509
    • Q14523

    Protein attributes for B4GALT1 Gene

    Size:
    398 amino acids
    Molecular mass:
    43920 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer; and heterodimer with alpha-lactalbumin to form lactose synthase. Interacts (via N-terminal cytoplasmic domain) with UBE2Q1 (via N-terminus); the interaction is direct (By similarity).

    Three dimensional structures from OCA and Proteopedia for B4GALT1 Gene

    Alternative splice isoforms for B4GALT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for B4GALT1 Gene

Proteomics data for B4GALT1 Gene at MOPED

Post-translational modifications for B4GALT1 Gene

  • The soluble form derives from the membrane forms by proteolytic processing
  • Glycosylation at Asn113
  • Modification sites at PhosphoSitePlus

Other Protein References for B4GALT1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for B4GALT1 ("beta-1,4-Galactosyltransferase 1/B4GalT1")

No data available for DME Specific Peptides for B4GALT1 Gene

Domains for B4GALT1 Gene

Gene Families for B4GALT1 Gene

HGNC:
  • B4GT :Beta 4-glycosyltransferases

Graphical View of Domain Structure for InterPro Entry

P15291

UniProtKB/Swiss-Prot:

B4GT1_HUMAN :
  • P15291
Family:
  • Belongs to the glycosyltransferase 7 family.
genes like me logo Genes that share domains with B4GALT1: view

Function for B4GALT1 Gene

Molecular function for B4GALT1 Gene

GENATLAS Biochemistry:
UDP galactose
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-galactose + D-glucose = UDP + lactose
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-galactose + N-acetyl-beta-D-glucosaminylglycopeptide = UDP + beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminylglycopeptide
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-galactose + N-acetyl-D-glucosamine = UDP + N-acetyllactosamine
UniProtKB/Swiss-Prot Function:
The Golgi complex form catalyzes the production of lactose in the lactating mammary gland and could also be responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids
UniProtKB/Swiss-Prot Function:
The cell surface form functions as a recognition molecule during a variety of cell to cell and cell to matrix interactions, as those occurring during development and egg fertilization, by binding to specific oligosaccharide ligands on opposing cells or in the extracellular matrix

Enzyme Numbers (IUBMB) for B4GALT1 Gene

Gene Ontology (GO) - Molecular Function for B4GALT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003831 beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity IDA 16157350
GO:0003945 N-acetyllactosamine synthase activity IDA 2120039
GO:0004461 lactose synthase activity IDA 33805
GO:0005515 protein binding --
GO:0008092 cytoskeletal protein binding IEA --
genes like me logo Genes that share ontologies with B4GALT1: view
genes like me logo Genes that share phenotypes with B4GALT1: view

Animal Models for B4GALT1 Gene

MGI Knock Outs for B4GALT1:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for B4GALT1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for B4GALT1 Gene

Localization for B4GALT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B4GALT1 Gene

Isoform Long: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Cell membrane; Single-pass type II membrane protein. Cell surface. Cell projection, filopodium. Note=Found in trans cisternae of Golgi but is mainly localized at the plasma membrane (PubMed:1714903). B4GALT1 cell surface expression is regulated by UBE2Q1 (By similarity). {ECO:0000250 UniProtKB:P15535, ECO:0000269 PubMed:1714903}.
Isoform Short: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Found in trans cisternae of Golgi. {ECO:0000269 PubMed:1714903}.
Processed beta-1,4-galactosyltransferase 1: Secreted. Note=Soluble form found in body fluids.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for B4GALT1 Gene COMPARTMENTS Subcellular localization image for B4GALT1 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
plasma membrane 5
mitochondrion 2
cytosol 1

Gene Ontology (GO) - Cellular Components for B4GALT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000138 Golgi trans cisterna IDA 6121819
GO:0000139 Golgi membrane TAS --
GO:0005615 extracellular space IDA 16502470
GO:0005794 Golgi apparatus IDA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with B4GALT1: view

Pathways for B4GALT1 Gene

genes like me logo Genes that share pathways with B4GALT1: view

Pathways by source for B4GALT1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot P15291-B4GT1_HUMAN

  • Pathway: Protein modification; protein glycosylation

Gene Ontology (GO) - Biological Process for B4GALT1 Gene

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 TAS --
GO:0006012 galactose metabolic process IEA --
genes like me logo Genes that share ontologies with B4GALT1: view

Compounds for B4GALT1 Gene

(7) HMDB Compounds for B4GALT1 Gene

Compound Synonyms Cas Number PubMed IDs
Alpha-Lactose
  • (+)-lactose
63-42-3
D-Glucose
  • (+)-Glucose
50-99-7
Manganese
  • manganese
7439-96-5
N-Acetyl-D-glucosamine
  • 2-(acetylamino)-2-deoxyhexose
7512-17-6
N-Acetyllactosamine
  • D-galactopyranosyl
32181-59-2

(6) Drugbank Compounds for B4GALT1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
2-(N-Morpholino)-Ethanesulfonic Acid
target
6-Aminohexyl-Uridine-C1,5'-Diphosphate
target
Di(N-Acetyl-D-Glucosamine)
target
N-Acetyl-D-glucosamine
  • 2-Acetamido-2-deoxy-D-glucose
7512-17-6 target
Uridine Diphosphate Galactose
  • GALACTOSE-URIDINE-5'-DIPHOSPHATE
2956-16-3 target

(3) Novoseek inferred chemical compound relationships for B4GALT1 Gene

Compound -log(P) Hits PubMed IDs
galactose 72.2 9
udpglucose 71.2 3
n-acetylglucosamine 67.2 5
genes like me logo Genes that share compounds with B4GALT1: view

Transcripts for B4GALT1 Gene

mRNA/cDNA for B4GALT1 Gene

Unigene Clusters for B4GALT1 Gene

UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for B4GALT1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for B4GALT1 Gene

No ASD Table

Relevant External Links for B4GALT1 Gene

GeneLoc Exon Structure for
B4GALT1
ECgene alternative splicing isoforms for
B4GALT1

Expression for B4GALT1 Gene

mRNA expression in normal human tissues for B4GALT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for B4GALT1 Gene

This gene is overexpressed in Milk (34.4) and Urine (16.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for B4GALT1 Gene

SOURCE GeneReport for Unigene cluster for B4GALT1 Gene Hs.272011

mRNA Expression by UniProt/SwissProt for B4GALT1 Gene

P15291-B4GT1_HUMAN
Tissue specificity: Ubiquitously expressed, but at very low levels in fetal and adult brain
genes like me logo Genes that share expressions with B4GALT1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Expression partners for B4GALT1 Gene

Orthologs for B4GALT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for B4GALT1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia B4GALT1 35
  • 86.68 (n)
  • 84.67 (a)
B4GALT1 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia B4GALT1 35
  • 88.94 (n)
  • 86.93 (a)
B4GALT1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia B4galt1 35
  • 86.65 (n)
  • 86.9 (a)
B4galt1 16
B4galt1 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia B4GALT1 35
  • 98.74 (n)
  • 97.74 (a)
B4GALT1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia B4galt1 35
  • 86.82 (n)
  • 88.16 (a)
oppossum
(Monodelphis domestica)
Mammalia B4GALT1 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia B4GALT1 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves B4GALT1 35
  • 69.89 (n)
  • 71.87 (a)
CKI 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia B4GALT1 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia b4galt1.1 35
  • 62.66 (n)
  • 63.9 (a)
zebrafish
(Danio rerio)
Actinopterygii zgc:154116 35
  • 64.12 (n)
  • 62.06 (a)
b4galt1 36
  • 57 (a)
OneToMany
B4GALT1 (2 of 2) 36
  • 61 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:GH13356 37
  • 38 (a)
CG14517 37
  • 37 (a)
beta4GalNAcTA 36
  • 31 (a)
ManyToMany
beta4GalNAcTB 36
  • 29 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea W02B12.11 37
  • 36 (a)
Y73E7A.7 37
  • 44 (a)
bre-4 36
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 28 (a)
ManyToMany
-- 36
  • 33 (a)
ManyToMany
-- 36
  • 41 (a)
ManyToMany
-- 36
  • 35 (a)
ManyToMany
-- 36
  • 35 (a)
ManyToMany
-- 36
  • 35 (a)
ManyToMany
-- 36
  • 35 (a)
ManyToMany
-- 36
  • 30 (a)
ManyToMany
-- 36
  • 43 (a)
ManyToMany
-- 36
  • 28 (a)
ManyToMany
Species with no ortholog for B4GALT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for B4GALT1 Gene

ENSEMBL:
Gene Tree for B4GALT1 (if available)
TreeFam:
Gene Tree for B4GALT1 (if available)

Paralogs for B4GALT1 Gene

Paralogs for B4GALT1 Gene

Selected SIMAP similar genes for B4GALT1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with B4GALT1: view

Variants for B4GALT1 Gene

Sequence variations from dbSNP and Humsavar for B4GALT1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs869 -- 33,113,123(-) ATTGT(A/C/G/T)GTGAA utr-variant-3-prime
rs1018 -- 33,113,131(-) ATTGC(C/T)AAATT utr-variant-3-prime
rs9169 - 33,120,485(-) TGACC(A/G)TAATG reference, missense
rs10412 -- 33,110,841(+) GCCCC(C/T)GCCCC utr-variant-3-prime
rs13764 -- 33,110,946(-) GTGAA(A/C)TGGCC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for B4GALT1 Gene

Variant ID Type Subtype PubMed ID
nsv893017 CNV Gain 21882294
nsv509299 CNV Insertion 20534489
nsv527001 CNV Loss 19592680
esv259528 OTHER Complex 20981092
esv259823 OTHER Complex 20981092
esv1668110 CNV Insertion 17803354
esv272933 CNV Insertion 20981092
esv268223 CNV Insertion 20981092
nsv6523 CNV Loss 18451855
nsv519369 CNV Gain 19592680

Relevant External Links for B4GALT1 Gene

HapMap Linkage Disequilibrium report
B4GALT1
Human Gene Mutation Database (HGMD)
B4GALT1
Locus Specific Mutation Databases (LSDB)
B4GALT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B4GALT1 Gene

Disorders for B4GALT1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for B4GALT1 Gene in MalaCards »

(2) Diseases for B4GALT1 Gene including...

(1) OMIM Diseases for B4GALT1 Gene (137060)

UniProtKB/Swiss-Prot

B4GT1_HUMAN
  • Congenital disorder of glycosylation 2D (CDG2D) [MIM:607091]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for B4GALT1

GeneTests
B4GALT1
GeneReviews
B4GALT1
Genetic Association Database (GAD)
B4GALT1
Human Genome Epidemiology (HuGE) Navigator
B4GALT1
genes like me logo Genes that share disorders with B4GALT1: view

No data available for University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for B4GALT1 Gene

Publications for B4GALT1 Gene

  1. 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. (PMID: 16157350) Ramasamy V. … Qasba P.K. (J. Mol. Biol. 2005) 3 4 23 25
  2. Association of beta-1,3-N-acetylglucosaminyltransferase 1 and beta-1,4-galactosyltransferase 1, trans-Golgi enzymes involved in coupled poly-N-acetyllactosamine synthesis. (PMID: 19261593) Lee P.L. … Pfeffer S.R. (Glycobiology 2009) 3 23
  3. Complementary DNA cloning for galactosyltransferase associated with tumor and determination of antigenic epitopes recognized by specific monoclonal antibodies. (PMID: 1384956) Uejima T. … Narimatsu H. (Cancer Res. 1992) 3 4
  4. Evidence for a molecular distinction between Golgi and cell surface forms of beta 1,4-galactosyltransferase. (PMID: 1714903) Lopez L.C. … Shur B.D. (J. Biol. Chem. 1991) 3 4
  5. Genomic structure and expression of human beta-1,4- galactosyltransferase. (PMID: 1903938) Mengle-Gaw L. … Tiemeier D.C. (Biochem. Biophys. Res. Commun. 1991) 3 4

Products for B4GALT1 Gene

Sources for B4GALT1 Gene

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