Free for academic non-profit institutions. Other users need a Commercial license

Aliases for B3GALT1 Gene

Aliases for B3GALT1 Gene

  • Beta-1,3-Galactosyltransferase 1 2 3 3 5
  • UDP-Galactose:Beta-N-Acetyl-Glucosamine-Beta-1,3-Galactosyltransferase 1 3 4
  • UDP-Gal:BetaGlcNAc Beta 1,3-Galactosyltransferase, Polypeptide 1 2 3
  • Beta-1,3-GalTase 1 3 4
  • Beta3Gal-T1 3 4
  • Beta3GalT1 3 4
  • UDP-Gal:BetaGlcNAc Beta 1,3-Galactosyltransferase 1 2
  • EC 4

External Ids for B3GALT1 Gene

Previous GeneCards Identifiers for B3GALT1 Gene

  • GC02P166727
  • GC02P168639
  • GC02P168878
  • GC02P168879
  • GC02P168500
  • GC02P168383
  • GC02P160555
  • GC02P167490

Summaries for B3GALT1 Gene

Entrez Gene Summary for B3GALT1 Gene

  • This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is expressed exclusively in the brain. The encoded protein shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008]

GeneCards Summary for B3GALT1 Gene

B3GALT1 (Beta-1,3-Galactosyltransferase 1) is a Protein Coding gene. Among its related pathways are Glycosphingolipid biosynthesis - ganglio series and Metabolism. Gene Ontology (GO) annotations related to this gene include galactosyltransferase activity and UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity. An important paralog of this gene is B3GALT2.

UniProtKB/Swiss-Prot for B3GALT1 Gene

  • Beta-1,3-galactosyltransferase that transfers galactose from UDP-alpha-D-galactose to substrates with a terminal beta-N-acetylglucosamine (beta-GlcNAc) residue. Involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins. Inactive towards substrates with terminal alpha-N-acetylglucosamine (alpha-GlcNAc) or alpha-N-acetylgalactosamine (alpha-GalNAc) residues.

Additional gene information for B3GALT1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B3GALT1 Gene

Genomics for B3GALT1 Gene

GeneHancer (GH) Regulatory Elements for B3GALT1 Gene

Promoters and enhancers for B3GALT1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J167292 Promoter/Enhancer 1.4 Ensembl ENCODE 650.7 -0.1 -70 1.6 ELF3 PKNOX1 SIN3A DMAP1 ZNF48 RFX5 ETS1 ZNF335 GLIS2 ELK1 ENSG00000228222 B3GALT1 XIRP2-AS1
GH02J167293 Promoter 0.9 Ensembl 650.7 +0.8 840 0.2 ZIC2 ZNF335 GLIS2 ZNF692 GLIS1 ZNF341 ZNF600 ZBTB26 ZNF423 EZH2 B3GALT1 ENSG00000228222 GC02M167353
GH02J167294 Enhancer 0.3 ENCODE 650.7 +1.1 1145 0 EZH2 B3GALT1 ENSG00000228222 GC02M167353
GH02J167295 Enhancer 0.3 ENCODE 650.7 +1.0 1025 0.2 EZH2 B3GALT1 ENSG00000228222 GC02M167353
GH02J167844 Enhancer 0.8 ENCODE 17.1 +551.9 551904 1.4 HDAC1 HDGF ARNT RAD21 SCRT2 ATF7 ZEB2 ZNF592 NFIC SMARCA4 B3GALT1 PIR54848 GC02P167842 ENSG00000235335
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around B3GALT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the B3GALT1 gene promoter:

Genomic Locations for B3GALT1 Gene

Genomic Locations for B3GALT1 Gene
580,981 bases
Plus strand

Genomic View for B3GALT1 Gene

Genes around B3GALT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B3GALT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B3GALT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B3GALT1 Gene

Proteins for B3GALT1 Gene

  • Protein details for B3GALT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Beta-1,3-galactosyltransferase 1
    Protein Accession:
    Secondary Accessions:
    • D3DPB8
    • Q53SS2

    Protein attributes for B3GALT1 Gene

    326 amino acids
    Molecular mass:
    37993 Da
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

neXtProt entry for B3GALT1 Gene

Post-translational modifications for B3GALT1 Gene

  • Glycosylation at Asn151 and Asn47
  • Modification sites at PhosphoSitePlus

Other Protein References for B3GALT1 Gene

No data available for DME Specific Peptides for B3GALT1 Gene

Domains & Families for B3GALT1 Gene

Gene Families for B3GALT1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted secreted proteins

Protein Domains for B3GALT1 Gene

Suggested Antigen Peptide Sequences for B3GALT1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyltransferase 31 family.
  • Belongs to the glycosyltransferase 31 family.
genes like me logo Genes that share domains with B3GALT1: view

Function for B3GALT1 Gene

Molecular function for B3GALT1 Gene

UniProtKB/Swiss-Prot Function:
Beta-1,3-galactosyltransferase that transfers galactose from UDP-alpha-D-galactose to substrates with a terminal beta-N-acetylglucosamine (beta-GlcNAc) residue. Involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins. Inactive towards substrates with terminal alpha-N-acetylglucosamine (alpha-GlcNAc) or alpha-N-acetylgalactosamine (alpha-GalNAc) residues.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-galactose + N-acetyl-beta-D-glucosaminyl-R = UDP + beta-D-galactosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-R.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=90 uM for UDP-alpha-D-galactose {ECO:0000269 PubMed:9582303};

Enzyme Numbers (IUBMB) for B3GALT1 Gene

Phenotypes From GWAS Catalog for B3GALT1 Gene

Gene Ontology (GO) - Molecular Function for B3GALT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008375 acetylglucosaminyltransferase activity IBA --
GO:0008376 acetylgalactosaminyltransferase activity IBA --
GO:0008378 galactosyltransferase activity IEA --
GO:0008499 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity IDA 9582303
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with B3GALT1: view
genes like me logo Genes that share phenotypes with B3GALT1: view

Animal Model Products

miRNA for B3GALT1 Gene

miRTarBase miRNAs that target B3GALT1

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for B3GALT1 Gene

Localization for B3GALT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B3GALT1 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for B3GALT1 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for B3GALT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005783 endoplasmic reticulum IBA --
GO:0005794 Golgi apparatus IEA,IBA --
GO:0016020 membrane IEA,IBA --
GO:0016021 integral component of membrane NAS 9582303
genes like me logo Genes that share ontologies with B3GALT1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for B3GALT1 Gene

Pathways & Interactions for B3GALT1 Gene

genes like me logo Genes that share pathways with B3GALT1: view

Pathways by source for B3GALT1 Gene

1 BioSystems pathway for B3GALT1 Gene

UniProtKB/Swiss-Prot Q9Y5Z6-B3GT1_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for B3GALT1 Gene

Gene Ontology (GO) - Biological Process for B3GALT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0006487 protein N-linked glycosylation IBA --
GO:0006493 protein O-linked glycosylation IBA --
GO:0006682 galactosylceramide biosynthetic process IDA 9582303
GO:0009312 oligosaccharide biosynthetic process IEA,IDA 9582303
genes like me logo Genes that share ontologies with B3GALT1: view

No data available for SIGNOR curated interactions for B3GALT1 Gene

Drugs & Compounds for B3GALT1 Gene

(1) Drugs for B3GALT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 37
genes like me logo Genes that share compounds with B3GALT1: view

Transcripts for B3GALT1 Gene

mRNA/cDNA for B3GALT1 Gene

(6) Selected AceView cDNA sequences:
(3) Additional mRNA sequences :
(4) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for B3GALT1 Gene

UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for B3GALT1 Gene

No ASD Table

Relevant External Links for B3GALT1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for B3GALT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for B3GALT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for B3GALT1 Gene

This gene is overexpressed in Muscle - Skeletal (x7.0), Brain - Nucleus accumbens (basal ganglia) (x5.2), and Brain - Frontal Cortex (BA9) (x4.0).

NURSA nuclear receptor signaling pathways regulating expression of B3GALT1 Gene:


SOURCE GeneReport for Unigene cluster for B3GALT1 Gene:


mRNA Expression by UniProt/SwissProt for B3GALT1 Gene:

Tissue specificity: Detected in brain and colon mucosa and to a lesser extent in colon adenocarcinoma cells.
genes like me logo Genes that share expression patterns with B3GALT1: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for B3GALT1 Gene

Orthologs for B3GALT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for B3GALT1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia B3GALT1 34 33
  • 99.28 (n)
(Ornithorhynchus anatinus)
Mammalia B3GALT1 34
  • 96 (a)
(Monodelphis domestica)
Mammalia B3GALT1 34
  • 95 (a)
(Canis familiaris)
Mammalia B3GALT1 34 33
  • 92.74 (n)
(Bos Taurus)
Mammalia B3GALT1 34 33
  • 91.51 (n)
(Rattus norvegicus)
Mammalia B3galt1 33
  • 91.21 (n)
(Mus musculus)
Mammalia B3galt1 16 34 33
  • 90.59 (n)
(Gallus gallus)
Aves B3GALT1 34 33
  • 82.62 (n)
(Anolis carolinensis)
Reptilia B3GALT1 34
  • 94 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia b3galt1 33
  • 79.12 (n)
(Danio rerio)
Actinopterygii B3GALT1 34
  • 83 (a)
LOC571003 33
  • 72.29 (n)
Dr.18742 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1338 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000258 33
  • 47.36 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8668 35 33
  • 46.97 (n)
brn 35
  • 33 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G06440 33
  • 44.75 (n)
(Oryza sativa)
Liliopsida Os01g0328900 33
  • 44.09 (n)
Species where no ortholog for B3GALT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for B3GALT1 Gene

Gene Tree for B3GALT1 (if available)
Gene Tree for B3GALT1 (if available)
Evolutionary constrained regions (ECRs) for B3GALT1: view image

Paralogs for B3GALT1 Gene

(12) SIMAP similar genes for B3GALT1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with B3GALT1: view

Variants for B3GALT1 Gene

Sequence variations from dbSNP and Humsavar for B3GALT1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs193920868 uncertain-significance, Malignant tumor of prostate 167,869,578(+) TTTTT/TTTT coding_sequence_variant, frameshift
rs1000007542 -- 167,684,456(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000027781 -- 167,533,981(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000029332 -- 167,291,205(+) T/C upstream_transcript_variant
rs1000035139 -- 167,419,017(+) T/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for B3GALT1 Gene

Variant ID Type Subtype PubMed ID
nsv1115583 CNV duplication 24896259
nsv1151849 CNV duplication 26484159
nsv583592 CNV loss 21841781
nsv583596 CNV gain 21841781
nsv955282 CNV duplication 24416366
nsv955283 CNV deletion 24416366

Variation tolerance for B3GALT1 Gene

Residual Variation Intolerance Score: 31% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.62; 56.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for B3GALT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B3GALT1 Gene

Disorders for B3GALT1 Gene

Additional Disease Information for B3GALT1

No disorders were found for B3GALT1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for B3GALT1 Gene

Publications for B3GALT1 Gene

  1. A family of human beta3-galactosyltransferases. Characterization of four members of a UDP-galactose:beta-N-acetyl-glucosamine/beta-nacetyl-galactosamine beta-1,3-galactosyltransferase family. (PMID: 9582303) Amado M … Clausen H (The Journal of biological chemistry 1998) 2 3 4 22 58
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Differential expression of beta1,3galactosyltransferases in human colon cells derived from adenocarcinomas or normal mucosa. (PMID: 10356986) Bardoni A … Trinchera M (FEBS letters 1999) 3 4 58
  5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie AG … Butte NF (PloS one 2012) 3 58

Products for B3GALT1 Gene

Sources for B3GALT1 Gene

Loading form....