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Aliases for B4GALT1 Gene

Aliases for B4GALT1 Gene

  • Beta-1,4-Galactosyltransferase 1 2 3
  • UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase, Polypeptide 1 2 3 5
  • 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
  • GGTB2 3 4
  • Glycoprotein-4-Beta-Galactosyltransferase 2 3
  • Lactose Synthase 3
  • EC 2.4.1.- 4
  • CDG2D 3
  • GTB 3
  • GT1 3

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 (Beta-1,4-Galactosyltransferase 1) is a Protein Coding gene. Diseases associated with B4GALT1 include congenital disorder of glycosylation, type iid and shaheen syndrome. Among its related pathways are Signaling by GPCR and Metabolism. GO annotations related to this gene include protein homodimerization activity and cytoskeletal protein 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

Promoters for B4GALT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around B4GALT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for B4GALT1 Gene

Chromosome:
9
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

Genes around B4GALT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B4GALT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Asn 113
  • Modification sites at PhosphoSitePlus

Other Protein References for B4GALT1 Gene

ENSEMBL proteins:
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 & Families for B4GALT1 Gene

Gene Families for B4GALT1 Gene

Graphical View of Domain Structure for InterPro Entry

P15291

UniProtKB/Swiss-Prot:

B4GT1_HUMAN :
  • Belongs to the glycosyltransferase 7 family.
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:0035250 UDP-galactosyltransferase activity IDA 3917437
GO:0042803 protein homodimerization activity IDA 7744867
GO:0048487 beta-tubulin binding IPI 7744867
genes like me logo Genes that share ontologies with B4GALT1: view
genes like me logo Genes that share phenotypes with B4GALT1: view

Human Phenotype Ontology for B4GALT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for B4GALT1 Gene

MGI Knock Outs for B4GALT1:

Animal Model Products

miRNA for B4GALT1 Gene

miRTarBase miRNAs that target B4GALT1

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets 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. {ECO:0000303 PubMed:2120039}.

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:0009986 cell surface IEA --
GO:0016323 basolateral plasma membrane IDA 3917437
genes like me logo Genes that share ontologies with B4GALT1: view

Pathways & Interactions for B4GALT1 Gene

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

Pathways by source for B4GALT1 Gene

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:0006487 protein N-linked glycosylation IDA 16157350
GO:0007155 cell adhesion IEA --
GO:0007219 Notch signaling pathway TAS --
genes like me logo Genes that share ontologies with B4GALT1: view

No data available for SIGNOR curated interactions for B4GALT1 Gene

Drugs & Compounds for B4GALT1 Gene

(9) Drugs for B4GALT1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
N-Acetyl-D-glucosamine Approved Nutra Target 0
Uridine diphosphategalactose Experimental Pharma Target 0
Uridine-5'-Monophosphate Experimental Pharma Target 0
2-(N-Morpholino)-Ethanesulfonic Acid Experimental Pharma Target 0
6-Aminohexyl-Uridine-C1,5'-Diphosphate Experimental Pharma Target 0

(6) Additional Compounds for B4GALT1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
beta-Lactose
  • beta-D-Galactopyranosyl-(1->4)-beta-D-glucopyranose
  • beta-D-Galactopyranosyl-(1->4)-beta-D-glucose
  • beta-Lactose
5965-66-2
D-Glucose
  • Roferose ST
  • (+)-Glucose
  • Anhydrous dextrose
  • Cerelose
  • Cerelose 2001
50-99-7
n-acetyllactosamine
  • beta-D-Galactosyl-1,4-N-acetyl-beta-D-glucosamine
  • beta-D-Galactosyl-1,4-N-acetyl-D-glucosamine
  • beta-delta-Galactosyl-1,4-N-acetyl-beta-delta-glucosamine
  • beta-delta-Galactosyl-1,4-N-acetyl-delta-glucosamine
  • D-Galactopyranosyl
32181-59-2
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:

Inhibitory RNA 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 from HIPED for B4GALT1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with B4GALT1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-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
chimpanzee
(Pan troglodytes)
Mammalia B4GALT1 36
  • 98 (a)
OneToOne
B4GALT1 35
  • 98.74 (n)
  • 97.74 (a)
cow
(Bos Taurus)
Mammalia B4GALT1 36
  • 85 (a)
OneToOne
B4GALT1 35
  • 86.68 (n)
  • 84.67 (a)
dog
(Canis familiaris)
Mammalia B4GALT1 35
  • 88.94 (n)
  • 86.93 (a)
B4GALT1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia B4galt1 16
B4galt1 35
  • 86.65 (n)
  • 86.9 (a)
B4galt1 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia B4GALT1 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia B4GALT1 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia B4galt1 35
  • 86.82 (n)
  • 88.16 (a)
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 beta4GalNAcTA 36
  • 31 (a)
ManyToMany
beta4GalNAcTB 36
  • 29 (a)
ManyToMany
BcDNA:GH13356 37
  • 38 (a)
CG14517 37
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea bre-4 36
  • 34 (a)
OneToMany
W02B12.11 37
  • 36 (a)
Y73E7A.7 37
  • 44 (a)
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

(5) 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
VAR_054019 -
rs9169 - 33,120,485(-) TGACC(A/G)TAATG reference, missense
rs958532 -- 33,138,221(+) AGCCC(C/T)GGACA intron-variant
rs1328898 -- 33,163,273(-) GCTGT(C/T)GCTGA intron-variant
rs1328899 -- 33,151,417(-) TAGGT(A/G)GAGAG intron-variant

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

Variation tolerance for B4GALT1 Gene

Residual Variation Intolerance Score: 39.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.39; 27.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for B4GALT1 Gene

HapMap Linkage Disequilibrium report
B4GALT1
Human Gene Mutation Database (HGMD)
B4GALT1

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

Disorders for B4GALT1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for B4GALT1 Gene - From: OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type iid
  • congenital disorder of glycosylation 2d
shaheen syndrome
  • shns
muscular dystrophy-dystroglycanopathy , type a, 9
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a9
spinocerebellar ataxia 40
  • spinocerebellar ataxia type 40
progeria
  • hgps
- elite association - COSMIC cancer census association via MalaCards

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. {ECO:0000269 PubMed:11901181}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for B4GALT1

Genetic Association Database (GAD)
B4GALT1
Human Genome Epidemiology (HuGE) Navigator
B4GALT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
B4GALT1
genes like me logo Genes that share disorders with B4GALT1: view

No data available for 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 26 67
  2. Direct identification of nonreducing GlcNAc residues on N-glycans of glycoproteins using a novel chemoenzymatic method. (PMID: 17370997) Boeggeman E. … Qasba P.K. (Bioconjug. Chem. 2007) 23 25 26
  3. 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
  4. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  5. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26

Products for B4GALT1 Gene

Sources for B4GALT1 Gene

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