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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
  • B3GALT3 3 4 6
  • 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
  • GLCT3 3 6
  • GLOB 3 6
  • 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
  • UDP-GalNAc:Beta-1,3-N-Acetylgalactosaminyltransferase 1 3
  • P Blood Group Globoside 3
  • Brainiac1 3
  • Gb4Cer 3
  • GalT3 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. Diseases associated with B3GALNT1 include nor polyagglutination syndrome. Among its related pathways are Metabolism and Glycosphingolipid biosynthesis - globo series. GO annotations related to this gene include UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity and galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase 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

Genomic Location for B3GALNT1 Gene

Start:
161,083,883 bp from pter
End:
161,105,384 bp from pter
Size:
21,502 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 Asn72, Asn154, Asn198, Asn212, Ser225, and Asn326
  • Modification sites at PhosphoSitePlus

Domains for B3GALNT1 Gene

Gene Families for B3GALNT1 Gene

HGNC:

Protein Domains for B3GALNT1 Gene

Graphical View of Domain Structure for InterPro Entry

O75752

UniProtKB/Swiss-Prot:

B3GL1_HUMAN :
  • O75752
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:0016757 transferase activity, transferring glycosyl groups --
GO:0047273 galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity IEA --
genes like me logo Genes that share ontologies with B3GALNT1: view

Phenotypes for B3GALNT1 Gene

MGI mutant phenotypes for B3GALNT1:
inferred from 2 alleles
GenomeRNAi human phenotypes for B3GALNT1:
genes like me logo Genes that share phenotypes with B3GALNT1: view

Animal Models for B3GALNT1 Gene

MGI Knock Outs for B3GALNT1:

miRNA for B3GALNT1 Gene

No data available for Transcription Factor Targeting 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
extracellular 2
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
peroxisome 1
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:0005794 Golgi apparatus --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with B3GALNT1: view

Pathways 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

Compounds for B3GALNT1 Gene

(16) HMDB Compounds for B3GALNT1 Gene

Compound Synonyms Cas Number PubMed IDs
Lactosamine
  • beta-D-galactopyranosyl-(1->4)-2-amino-2-deoxy-D-glucose
13000-25-4
Magnesium
  • Magnesium
7439-95-4
N-Acetylgalactosamine
  • 2-Acetamido-2-desoxy-b-D-talofuranose
1811-31-0
Tetrahexosylceramide (d18:1/12:0)
  • CQH
11034-93-8
Trihexosylceramide (d18:1/12:0)
  • Ceramide trihexoside
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:

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

Integrated Proteomics: protein expression 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 expressions with B3GALNT1: view

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
chimpanzee
(Pan troglodytes)
Mammalia B3GALNT1 35
  • 99.6 (n)
  • 99.4 (a)
B3GALNT1 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia B3GALNT1 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia B3GALNT1 36
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia B3galnt1 35
  • 87.61 (n)
  • 92.45 (a)
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

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

Disorders for B3GALNT1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for B3GALNT1 Gene including...

Search for B3GALNT1 Gene in MalaCards »

(2) OMIM Diseases for B3GALNT1 Gene (603094)

Relevant External Links for B3GALNT1

Human Genome Epidemiology (HuGE) Navigator
B3GALNT1
genes like me logo Genes that share disorders with B3GALNT1: view

No data available for UniProtKB/Swiss-Prot 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 3 4 23
  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 3 4
  3. Molecular basis of the globoside-deficient P(k) blood group phenotype. Identification of four inactivating mutations in the UDP-N- acetylgalactosamine: globotriaosylceramide 3-beta-N- acetylgalactosaminyltransferase gene. (PMID: 12023287) Hellberg A. … Olsson M.L. (J. Biol. Chem. 2002) 3 4
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4
  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 4

Products for B3GALNT1 Gene

Sources for B3GALNT1 Gene

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