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Aliases for B3GALNT1 Gene

Aliases for B3GALNT1 Gene

  • Beta-1,3-N-Acetylgalactosaminyltransferase 1 (Globoside Blood Group) 2 3
  • Globoside Synthase 2 3 4
  • UDP-N-Acetylgalactosamine:Globotriaosylceramide Beta-1,3-N-Acetylgalactosaminyltransferase 3 4
  • UDP-Gal:BetaGlcNAc Beta 1,3-Galactosyltransferase, Polypeptide 3 (Globoside Blood Group) 2 3
  • Galactosylgalactosylglucosylceramide Beta-D-Acetyl-Galactosaminyltransferase 3 4
  • Beta-1,3-Galactosyltransferase 3 3 4
  • P Antigen Synthase 2 3
  • Beta-1,3-GalTase 3 3 4
  • Beta-1,3-GalNAc-T1 3 4
  • Beta-3-Gx-T3 3 4
  • Beta3Gal-T3 3 4
  • EC 2.4.1.79 4 63
  • Beta3GalT3 3 4
  • B3Gal-T3 3 4
  • B3GALT3 3 4
  • UDP-GalNAc:BetaGlcNAc Beta 1,3-Galactosaminyltransferase, Polypeptide 1 (Globoside Blood Group) 2
  • UDP-GalNAc:BetaGlcNAc Beta-1,3-Galactosaminyltransferase, Polypeptide 1 (Globoside Blood Group) 3
  • Globotriaosylceramide 3-Beta-N-Acetylgalactosaminyltransferase 3
  • P Blood Group Globoside 3
  • Brainiac1 3
  • Gb4Cer 3
  • GLCT3 3
  • GalT3 3
  • GLOB 3
  • P1 3
  • P 3

External Ids for B3GALNT1 Gene

Previous HGNC Symbols for B3GALNT1 Gene

  • B3GALT3

Previous GeneCards Identifiers for B3GALNT1 Gene

  • GC03M162285
  • GC03M160801
  • GC03M158200

Summaries for B3GALNT1 Gene

Entrez Gene Summary for B3GALNT1 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). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. Multiple transcript variants that are alternatively spliced in the 5' UTR have been described; they all encode the same protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for B3GALNT1 Gene

B3GALNT1 (Beta-1,3-N-Acetylgalactosaminyltransferase 1 (Globoside Blood Group)) is a Protein Coding gene. Among its related pathways are Metabolism and Glycosphingolipid biosynthesis - globo series. GO annotations related to this gene include transferase activity, transferring glycosyl groups and UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity. An important paralog of this gene is B3GNT5.

UniProtKB/Swiss-Prot for B3GALNT1 Gene

  • Transfers N-acetylgalactosamine onto globotriaosylceramide.

Gene Wiki entry for B3GALNT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B3GALNT1 Gene

Genomics for B3GALNT1 Gene

Regulatory Elements for B3GALNT1 Gene

Epigenetics Products

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

Genomic Location for B3GALNT1 Gene

Chromosome:
3
Start:
161,083,883 bp from pter
End:
161,105,630 bp from pter
Size:
21,748 bases
Orientation:
Minus strand

Genomic View for B3GALNT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for B3GALNT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B3GALNT1 Gene

Proteins for B3GALNT1 Gene

  • Protein details for B3GALNT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75752-B3GL1_HUMAN
    Recommended name:
    UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1
    Protein Accession:
    O75752
    Secondary Accessions:
    • D3DNM4
    • Q3Y531
    • Q6IAI5
    • Q8NFM8
    • Q8NFM9
    • Q9HA06

    Protein attributes for B3GALNT1 Gene

    Size:
    331 amino acids
    Molecular mass:
    39512 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

neXtProt entry for B3GALNT1 Gene

Proteomics data for B3GALNT1 Gene at MOPED

Selected DME Specific Peptides for B3GALNT1 Gene

Post-translational modifications for B3GALNT1 Gene

  • Glycosylation at Asn 72, Asn 154, Asn 198, Asn 212, Ser 225, and Asn 326
  • Modification sites at PhosphoSitePlus

Domains & Families for B3GALNT1 Gene

Gene Families for B3GALNT1 Gene

Protein Domains for B3GALNT1 Gene

Graphical View of Domain Structure for InterPro Entry

O75752

UniProtKB/Swiss-Prot:

B3GL1_HUMAN :
  • Belongs to the glycosyltransferase 31 family.
Family:
  • Belongs to the glycosyltransferase 31 family.
genes like me logo Genes that share domains with B3GALNT1: view

Function for B3GALNT1 Gene

Molecular function for B3GALNT1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-alpha-D-galactosamine + alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide = UDP + N-acetyl-beta-D-galactosaminyl-(1->3)-alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide
UniProtKB/Swiss-Prot Function:
Transfers N-acetylgalactosamine onto globotriaosylceramide.

Enzyme Numbers (IUBMB) for B3GALNT1 Gene

Gene Ontology (GO) - Molecular Function for B3GALNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008378 galactosyltransferase activity --
GO:0008499 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity IEA --
GO:0047273 galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity IEA --
genes like me logo Genes that share ontologies with B3GALNT1: view
genes like me logo Genes that share phenotypes with B3GALNT1: view

Animal Models for B3GALNT1 Gene

MGI Knock Outs for B3GALNT1:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for B3GALNT1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for B3GALNT1 Gene

Localization for B3GALNT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B3GALNT1 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for B3GALNT1 Gene COMPARTMENTS Subcellular localization image for B3GALNT1 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 1

Gene Ontology (GO) - Cellular Components for B3GALNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with B3GALNT1: view

Pathways & Interactions for B3GALNT1 Gene

genes like me logo Genes that share pathways with B3GALNT1: view

Pathways by source for B3GALNT1 Gene

UniProtKB/Swiss-Prot O75752-B3GL1_HUMAN

  • Pathway: Protein modification; protein glycosylation

Interacting Proteins for B3GALNT1 Gene

Gene Ontology (GO) - Biological Process for B3GALNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0009312 oligosaccharide biosynthetic process IEA --
genes like me logo Genes that share ontologies with B3GALNT1: view

No data available for SIGNOR curated interactions for B3GALNT1 Gene

Drugs & Compounds for B3GALNT1 Gene

(2) Drugs for B3GALNT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine 5'-diphosphate Experimental Pharma 0
Magnesium Nutra 0

(10) Additional Compounds for B3GALNT1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Lactosamine
  • 2-Amino-2-deoxy-4-O-beta-D-galactopyranosyl-D-glucose
  • 2-Amino-2-deoxy-4-O-beta-delta-galactopyranosyl-delta-glucose
  • beta-D-Galactopyranosyl-(1->4)-2-amino-2-deoxy-D-glucose
  • beta-D-Galactopyranosyl-(1->4)-D-glucosamine
  • beta-delta-Galactopyranosyl-(1->4)-2-amino-2-deoxy-delta-glucose
13000-25-4
N-Acetylgalactosamine
  • 2-Acetamido-2-deoxy-a-D-allopyranose
  • 2-Acetamido-2-deoxy-a-D-glucopyranose
  • 2-Acetamido-2-deoxy-alpha-D-allopyranose
  • 2-Acetamido-2-deoxy-alpha-D-glucopyranose
  • 2-Acetamido-2-deoxy-alpha-delta-allopyranose
1811-31-0
Tetrahexosylceramide (d18:1/12:0)
  • CQH
  • Cytolipin K
  • GalNAc-beta1->3Gal-alpha1->3Gal-beta1->4Glc-beta1->1'Cer
  • Ganglioside Gb4
  • Ganglioside GL 4
11034-93-8
Trihexosylceramide (d18:1/12:0)
  • Ceramide trihexoside
  • D-Galactosyl-1,4-D-galactosyl-1,4-D-glucosylceramide
  • delta-Galactosyl-1,4-delta-galactosyl-1,4-delta-glucosylceramide
  • Fabry glycolipid
  • Gal-alpha1->4Gal-beta1->4Glc-beta1->1'Cer
71965-57-6
Trihexosylceramide (d18:1/16:0)
  • Ceramide trihexoside
  • D-Galactosyl-1,4-D-galactosyl-1,4-D-glucosylceramide
  • delta-Galactosyl-1,4-delta-galactosyl-1,4-delta-glucosylceramide
  • Fabry glycolipid
  • Gal-alpha1->4Gal-beta1->4Glc-beta1->1'Cer
71965-57-6
genes like me logo Genes that share compounds with B3GALNT1: view

Transcripts for B3GALNT1 Gene

Unigene Clusters for B3GALNT1 Gene

Beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group):
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for B3GALNT1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for B3GALNT1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c
SP1:
SP2: - - -
SP3: - -
SP4: - - -
SP5: - - - -
SP6: -
SP7:

Relevant External Links for B3GALNT1 Gene

GeneLoc Exon Structure for
B3GALNT1
ECgene alternative splicing isoforms for
B3GALNT1

Expression for B3GALNT1 Gene

mRNA expression in normal human tissues for B3GALNT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for B3GALNT1 Gene

This gene is overexpressed in Vitreous humor (49.1), Heart (10.2), and Plasma (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for B3GALNT1 Gene



SOURCE GeneReport for Unigene cluster for B3GALNT1 Gene Hs.418062

mRNA Expression by UniProt/SwissProt for B3GALNT1 Gene

O75752-B3GL1_HUMAN
Tissue specificity: Higher expression in heart and brain, and to a lesser extent in lung, placenta, kidney and testis. Lower expression in liver, spleen and stomach. No expression in skeletal muscle.
genes like me logo Genes that share expression patterns with B3GALNT1: view

Protein tissue co-expression partners for B3GALNT1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for B3GALNT1 Gene

Orthologs for B3GALNT1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for B3GALNT1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia B3GALNT1 35
  • 92.35 (n)
  • 96.37 (a)
B3GALNT1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia B3GALNT1 35
  • 93.45 (n)
  • 96.07 (a)
B3GALNT1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia B3galnt1 35
  • 88.42 (n)
  • 93.35 (a)
B3galnt1 16
B3galnt1 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia B3GALNT1 35
  • 99.6 (n)
  • 99.4 (a)
B3GALNT1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia B3galnt1 35
  • 87.61 (n)
  • 92.45 (a)
oppossum
(Monodelphis domestica)
Mammalia B3GALNT1 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia B3GALNT1 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves B3GALNT1 35
  • 69.92 (n)
  • 66.33 (a)
B3GALNT1 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia B3GALNT1 36
  • 58 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii zgc:194551 36
  • 26 (a)
ManyToMany
Species with no ortholog for B3GALNT1:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for B3GALNT1 Gene

ENSEMBL:
Gene Tree for B3GALNT1 (if available)
TreeFam:
Gene Tree for B3GALNT1 (if available)

Paralogs for B3GALNT1 Gene

Pseudogenes.org Pseudogenes for B3GALNT1 Gene

genes like me logo Genes that share paralogs with B3GALNT1: view

Variants for B3GALNT1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for B3GALNT1 Gene

O75752-B3GL1_HUMAN
B3GALNT1 activity is responsible for the globoside blood group system (GLOB), which is defined by the P antigen [MIM:615021]

Sequence variations from dbSNP and Humsavar for B3GALNT1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs1610158 -- 161,097,262(-) ttagc(A/G)cgtat intron-variant
rs1947685 -- 161,100,092(-) TTACA(G/T)ATTTT intron-variant
rs1947686 -- 161,094,211(-) ACTCA(A/G)AGCAG intron-variant
rs2231251 -- 161,087,613(-) AGGAG(C/T)TTCCA intron-variant
rs2231252 -- 161,087,564(-) TTGGA(A/G)TGGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for B3GALNT1 Gene

Variant ID Type Subtype PubMed ID
nsv877704 CNV Loss 21882294
nsv877705 CNV Gain 21882294
nsv877706 CNV Loss 21882294
nsv877707 CNV Loss 21882294
dgv5282n71 CNV Loss 21882294

Variation tolerance for B3GALNT1 Gene

Residual Variation Intolerance Score: 34.79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.28; 62.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for B3GALNT1 Gene

HapMap Linkage Disequilibrium report
B3GALNT1
Human Gene Mutation Database (HGMD)
B3GALNT1
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System

Disorders for B3GALNT1 Gene

Relevant External Links for B3GALNT1

Human Genome Epidemiology (HuGE) Navigator
B3GALNT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
B3GALNT1
genes like me logo Genes that share disorders with B3GALNT1: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for B3GALNT1 Gene

Publications for B3GALNT1 Gene

  1. Expression cloning of human globoside synthase cDNAs. Identification of beta3Gal-T3 as UDP-N-acetylgalactosamine:globotriaosylceramide beta1,3-N-acetylgalactosaminyltransferase. (PMID: 10993897) Okajima T. … Furukawa K. (J. Biol. Chem. 2000) 2 23 67
  2. 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 67
  3. Regulation of expression of cell surface neolacto-glycolipids and cloning of embryonic chicken brain GalT-4 (UDP-Gal: GlcNAc-R beta 1-4 galactosyltransferase). (PMID: 8005614) Basu S. … Basu M. (Indian J. Biochem. Biophys. 1993) 23 67
  4. Binding specificity of a baby hamster kidney lectin for H type I and II chains, polylactosamine glycans, and appropriately glycosylated forms of laminin and fibronectin. (PMID: 1313027) Sato S. … Hughes R.C. (J. Biol. Chem. 1992) 23 67
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67

Products for B3GALNT1 Gene

Sources for B3GALNT1 Gene

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