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 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
  • UDP-Gal:BetaGlcNAc Beta 1,3-Galactosyltransferase 1 2 3
  • Beta-1,3-GalTase 1 3 4
  • Beta3Gal-T1 3 4
  • Beta3GalT1 3 4
  • Beta-3-Galt1 3
  • EC 2.4.1.62 63
  • EC 2.4.1.- 4
  • EC 2.4.1 63

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 Metabolism and Glycosphingolipid biosynthesis - lacto and neolacto series. 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 B3GNT5.

UniProtKB/Swiss-Prot for B3GALT1 Gene

  • Beta-1,3-galactosyltransferase that transfers galactose from UDP-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.

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

Genomics for B3GALT1 Gene

Regulatory Elements for B3GALT1 Gene

Promoters for B3GALT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around B3GALT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for B3GALT1 Gene

Chromosome:
2
Start:
167,293,061 bp from pter
End:
167,874,041 bp from pter
Size:
580,981 bases
Orientation:
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:
    Q9Y5Z6-B3GT1_HUMAN
    Recommended name:
    Beta-1,3-galactosyltransferase 1
    Protein Accession:
    Q9Y5Z6
    Secondary Accessions:
    • D3DPB8
    • Q53SS2

    Protein attributes for B3GALT1 Gene

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

neXtProt entry for B3GALT1 Gene

Proteomics data for B3GALT1 Gene at MOPED

Selected DME Specific Peptides for B3GALT1 Gene

Post-translational modifications for B3GALT1 Gene

  • Glycosylation at Asn 47 and Asn 151
  • Modification sites at PhosphoSitePlus

Other Protein References for B3GALT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for B3GALT1 Gene

Gene Families for B3GALT1 Gene

Protein Domains for B3GALT1 Gene

Suggested Antigen Peptide Sequences for B3GALT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y5Z6

UniProtKB/Swiss-Prot:

B3GT1_HUMAN :
  • Belongs to the glycosyltransferase 31 family.
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-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.

Enzyme Numbers (IUBMB) for B3GALT1 Gene

Phenotypes for B3GALT1 Gene

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

Animal Model Products

miRNA for B3GALT1 Gene

miRTarBase miRNAs that target B3GALT1

No data available for Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for B3GALT1 Gene COMPARTMENTS Subcellular localization image for B3GALT1 gene
Compartment Confidence
golgi apparatus 5
cytosol 1
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components 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

UniProtKB/Swiss-Prot Q9Y5Z6-B3GT1_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for B3GALT1 Gene

Selected Interacting proteins: Q9Y5Z6-B3GT1_HUMAN for B3GALT1 Gene via I2D

Symbol External ID(s) Details
TRAF6
UGT1A1

Gene Ontology (GO) - Biological Process for B3GALT1 Gene

None

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 Pharma 32
genes like me logo Genes that share compounds with B3GALT1: view

Transcripts for B3GALT1 Gene

mRNA/cDNA for B3GALT1 Gene

(5) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(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:

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

No ASD Table

Relevant External Links for B3GALT1 Gene

GeneLoc Exon Structure for
B3GALT1
ECgene alternative splicing isoforms for
B3GALT1

Expression for B3GALT1 Gene

mRNA expression in normal human tissues 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).

SOURCE GeneReport for Unigene cluster for B3GALT1 Gene Hs.735833

mRNA Expression by UniProt/SwissProt for B3GALT1 Gene

Q9Y5Z6-B3GT1_HUMAN
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

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners 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
chimpanzee
(Pan troglodytes)
Mammalia B3GALT1 36
  • 100 (a)
OneToOne
B3GALT1 35
  • 99.28 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia B3GALT1 35
  • 91.51 (n)
  • 99.08 (a)
B3GALT1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia B3GALT1 36
  • 100 (a)
OneToOne
B3GALT1 35
  • 92.74 (n)
  • 99.69 (a)
mouse
(Mus musculus)
Mammalia B3galt1 16
B3galt1 36
  • 100 (a)
OneToOne
B3galt1 35
  • 90.59 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia B3GALT1 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia B3GALT1 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia B3galt1 35
  • 91.21 (n)
  • 100 (a)
chicken
(Gallus gallus)
Aves B3GALT1 35
  • 82.62 (n)
  • 95.09 (a)
B3GALT1 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia B3GALT1 36
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia b3galt1 35
  • 79.12 (n)
  • 91.36 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1338 35
zebrafish
(Danio rerio)
Actinopterygii Dr.18742 35
LOC571003 35
  • 72.29 (n)
  • 85.28 (a)
B3GALT1 36
  • 83 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000258 35
  • 47.36 (n)
  • 32.92 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8668 35
  • 46.97 (n)
  • 34.71 (a)
brn 37
  • 33 (a)
CG8668 37
  • 33 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G06440 35
  • 44.75 (n)
  • 29.92 (a)
rice
(Oryza sativa)
Liliopsida Os01g0328900 35
  • 44.09 (n)
  • 32.66 (a)
Species with no ortholog for B3GALT1:
  • 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

ENSEMBL:
Gene Tree for B3GALT1 (if available)
TreeFam:
Gene Tree for B3GALT1 (if available)

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 Sequence Context AA Info Type
rs726360 -- 167,550,253(-) GTGTA(C/G)TTAAT intron-variant
rs731922 -- 167,660,485(-) AATAA(C/T)AGAAT intron-variant
rs735424 -- 167,605,274(+) aacta(C/T)cccaa intron-variant
rs836672 -- 167,798,210(+) agatt(A/G)caaaa intron-variant
rs836685 -- 167,792,070(-) TTTTT(A/T)GATTT intron-variant

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)

Relevant External Links for B3GALT1 Gene

HapMap Linkage Disequilibrium report
B3GALT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for B3GALT1 Gene

Disorders for B3GALT1 Gene

Relevant External Links for B3GALT1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (J. Biol. Chem. 1998) 2 3 4 23 67
  2. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3
  3. Comparison of HPLC/ESI-FTICR MS versus MALDI-TOF/TOF MS for glycopeptide analysis of a highly glycosylated HIV envelope glycoprotein. (PMID: 18565761) Irungu J. … Desaire H. (J. Am. Soc. Mass Spectrom. 2008) 3
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3

Products for B3GALT1 Gene

Sources for B3GALT1 Gene

Back to Top

Content