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Aliases for B4GALNT3 Gene

Aliases for B4GALNT3 Gene

  • Beta-1,4-N-Acetyl-Galactosaminyl Transferase 3 2 3
  • N-Acetyl-Beta-Glucosaminyl-Glycoprotein 4-Beta-N-Acetylgalactosaminyltransferase 2 3 4
  • Beta-1,4-N-Acetylgalactosaminyltransferase III 3 4
  • Beta4GalNAc-T3 3 4
  • Beta4GalNAcT3 3 4
  • B4GalNAcT3 3 4
  • NGalNAc-T2 3 4
  • N-Acetyl-Beta-Glucosaminyl-Glycoprotein 4-Beta-N- Acetylgalactosaminyltransferase 3
  • Beta-1,4-N-Acetylgalactosaminyltransferase 3 3
  • EC 2.4.1.244 4

External Ids for B4GALNT3 Gene

Previous GeneCards Identifiers for B4GALNT3 Gene

  • GC12P000440
  • GC12P000569

Summaries for B4GALNT3 Gene

Entrez Gene Summary for B4GALNT3 Gene

  • B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008]

GeneCards Summary for B4GALNT3 Gene

B4GALNT3 (Beta-1,4-N-Acetyl-Galactosaminyl Transferase 3) is a Protein Coding gene. GO annotations related to this gene include acetylgalactosaminyltransferase activity and N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity. An important paralog of this gene is B4GALNT4.

UniProtKB/Swiss-Prot for B4GALNT3 Gene

  • Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N-diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans. Mediates the N,N-diacetyllactosediamine formation on gastric mucosa.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B4GALNT3 Gene

Genomics for B4GALNT3 Gene

Regulatory Elements for B4GALNT3 Gene

Genomic Location for B4GALNT3 Gene

Start:
460,364 bp from pter
End:
563,509 bp from pter
Size:
103,146 bases
Orientation:
Plus strand

Genomic View for B4GALNT3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for B4GALNT3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B4GALNT3 Gene

Proteins for B4GALNT3 Gene

  • Protein details for B4GALNT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6L9W6-B4GN3_HUMAN
    Recommended name:
    Beta-1,4-N-acetylgalactosaminyltransferase 3
    Protein Accession:
    Q6L9W6
    Secondary Accessions:
    • Q6ZNC1
    • Q8N7T6

    Protein attributes for B4GALNT3 Gene

    Size:
    998 amino acids
    Molecular mass:
    114975 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC05141.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD18454.1; Type=Miscellaneous discrepancy; Note=Probable intron retention.; Evidence={ECO:0000305};

neXtProt entry for B4GALNT3 Gene

Proteomics data for B4GALNT3 Gene at MOPED

Post-translational modifications for B4GALNT3 Gene

  • Glycosylation at Ser70
  • Modification sites at PhosphoSitePlus

Other Protein References for B4GALNT3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for B4GALNT3 Gene

Domains for B4GALNT3 Gene

Gene Families for B4GALNT3 Gene

HGNC:
  • B4GT :Beta 4-glycosyltransferases

Protein Domains for B4GALNT3 Gene

Suggested Antigen Peptide Sequences for B4GALNT3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6L9W6

UniProtKB/Swiss-Prot:

B4GN3_HUMAN :
  • Q6L9W6
Family:
  • Belongs to the chondroitin N-acetylgalactosaminyltransferase family.
genes like me logo Genes that share domains with B4GALNT3: view

Function for B4GALNT3 Gene

Molecular function for B4GALNT3 Gene

UniProtKB/Swiss-Prot CatalyticActivity: UDP-N-acetyl-alpha-D-galactosamine + N-acetyl-beta-D-glucosaminyl group = UDP + N-acetyl-beta-D-galactosaminyl-(1->4)-N-acetyl-beta-D-glucosaminyl group.
UniProtKB/Swiss-Prot Function: Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N-diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans. Mediates the N,N-diacetyllactosediamine formation on gastric mucosa.

Enzyme Numbers (IUBMB) for B4GALNT3 Gene

Gene Ontology (GO) - Molecular Function for B4GALNT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008376 acetylgalactosaminyltransferase activity IDA 12966086
GO:0033842 N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity IEA --
genes like me logo Genes that share ontologies with B4GALNT3: view
genes like me logo Genes that share phenotypes with B4GALNT3: view

miRNA for B4GALNT3 Gene

miRTarBase miRNAs that target B4GALNT3

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for B4GALNT3 Gene

Localization for B4GALNT3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B4GALNT3 Gene

Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Localizes to apical Golgi.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for B4GALNT3 Gene COMPARTMENTS Subcellular localization image for B4GALNT3 gene
Compartment Confidence
golgi apparatus 5
mitochondrion 2
cytosol 1
endoplasmic reticulum 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for B4GALNT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0032580 Golgi cisterna membrane IEA --
genes like me logo Genes that share ontologies with B4GALNT3: view

Pathways for B4GALNT3 Gene

SuperPathways for B4GALNT3 Gene

No Data Available

Interacting Proteins for B4GALNT3 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000266383%0d%0a9606.ENSP00000243776%0d%0a9606.ENSP00000035307%0d%0a
Selected Interacting proteins: ENSP00000266383 for B4GALNT3 Gene via STRING

Gene Ontology (GO) - Biological Process for B4GALNT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with B4GALNT3: view

No data available for Pathways by source for B4GALNT3 Gene

Compounds for B4GALNT3 Gene

(3) HMDB Compounds for B4GALNT3 Gene

Compound Synonyms Cas Number PubMed IDs
Chondroitin
  • Chondroitin-D-glucuronate
9007-27-6
N-Acetylgalactosamine
  • 2-Acetamido-2-desoxy-b-D-talofuranose
1811-31-0
Uridine diphosphate-N-acetylgalactosamine
  • UDP-N-acetyl-D-galactosamine
7277-98-7
genes like me logo Genes that share compounds with B4GALNT3: view

Transcripts for B4GALNT3 Gene

Unigene Clusters for B4GALNT3 Gene

Beta-1,4-N-acetyl-galactosaminyl transferase 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for B4GALNT3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1:
SP2: -
SP3:
SP4: -
SP5:

Relevant External Links for B4GALNT3 Gene

GeneLoc Exon Structure for
B4GALNT3
ECgene alternative splicing isoforms for
B4GALNT3

Expression for B4GALNT3 Gene

mRNA expression in normal human tissues for B4GALNT3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for B4GALNT3 Gene

This gene is overexpressed in Stomach (7.6).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for B4GALNT3 Gene

SOURCE GeneReport for Unigene cluster for B4GALNT3 Gene Hs.504416

mRNA Expression by UniProt/SwissProt for B4GALNT3 Gene

Q6L9W6-B4GN3_HUMAN
Tissue specificity: Highly expressed in testis, colon and stomach. Weakly expressed in other tissues.
genes like me logo Genes that share expressions with B4GALNT3: view

Orthologs for B4GALNT3 Gene

This gene was present in the common ancestor of animals.

Orthologs for B4GALNT3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia B4GALNT3 35
  • 99.27 (n)
  • 99.2 (a)
B4GALNT3 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia B4GALNT3 35
  • 83.71 (n)
  • 82.09 (a)
B4GALNT3 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia B4GALNT3 35
  • 88.16 (n)
  • 88.27 (a)
B4GALNT3 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia B4galnt3 35
  • 84.1 (n)
  • 83.76 (a)
B4galnt3 16
B4galnt3 36
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia B4GALNT3 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia B4GALNT3 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia B4galnt3 35
  • 83.2 (n)
  • 82.48 (a)
chicken
(Gallus gallus)
Aves B4GALNT3 35
  • 69.33 (n)
  • 67.93 (a)
B4GALNT3 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia B4GALNT3 36
  • 55 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15475 35
tropical clawed frog
(Silurana tropicalis)
Amphibia b4galnt3 35
  • 64.66 (n)
  • 61.44 (a)
Str.11923 35
zebrafish
(Danio rerio)
Actinopterygii B4GALNT3 (2 of 3) 36
  • 41 (a)
OneToMany
b4galnt3a 36
  • 40 (a)
OneToMany
b4galnt3b 35
  • 59.56 (n)
  • 55.9 (a)
b4galnt3b 36
  • 40 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG43313 36
  • 12 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mig-22 36
  • 11 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.937 36
  • 15 (a)
OneToMany
Species with no ortholog for B4GALNT3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 B4GALNT3 Gene

ENSEMBL:
Gene Tree for B4GALNT3 (if available)
TreeFam:
Gene Tree for B4GALNT3 (if available)

Paralogs for B4GALNT3 Gene

Paralogs for B4GALNT3 Gene

Selected SIMAP similar genes for B4GALNT3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with B4GALNT3: view

Variants for B4GALNT3 Gene

Sequence variations from dbSNP and Humsavar for B4GALNT3 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs215218 -- 480,151(+) ACCTC(A/G)TGATC intron-variant
rs215219 -- 480,158(+) GATCC(A/G)CCCGC intron-variant
rs215220 -- 480,472(+) GGAAG(G/T)CTTGA intron-variant
rs215221 -- 480,499(+) GTCCC(C/T)CTGAC intron-variant
rs215222 -- 480,489(+) GGTTC(C/T)TGAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for B4GALNT3 Gene

Variant ID Type Subtype PubMed ID
dgv452e1 CNV Complex 17122850
nsv898566 CNV Loss 21882294
dgv1337n71 CNV Gain 21882294
nsv898569 CNV Gain 21882294
nsv898570 CNV Gain 21882294
nsv468948 CNV Gain 19166990
nsv898571 CNV Gain 21882294
esv2745354 CNV Deletion 23290073
esv21735 CNV Loss 19812545
esv2210414 CNV Deletion 18987734
esv2745355 CNV Deletion 23290073
esv1142574 CNV Deletion 17803354
esv1129945 CNV Deletion 17803354
esv2745356 CNV Deletion 23290073
esv1270072 CNV Deletion 17803354
nsv468951 CNV Gain 19166990
nsv470254 CNV Gain 18288195
nsv8885 CNV Loss 18304495
nsv8886 CNV Loss 18304495
esv2745357 CNV Deletion 23290073
esv2745358 CNV Deletion 23290073
esv2745359 CNV Deletion 23290073
esv1181627 CNV Insertion 17803354
nsv8887 CNV Gain 18304495
nsv898572 CNV Gain 21882294
nsv519441 CNV Gain 19592680

Relevant External Links for B4GALNT3 Gene

HapMap Linkage Disequilibrium report
B4GALNT3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B4GALNT3 Gene

Disorders for B4GALNT3 Gene

Relevant External Links for B4GALNT3

Genetic Association Database (GAD)
B4GALNT3
Human Genome Epidemiology (HuGE) Navigator
B4GALNT3
genes like me logo Genes that share disorders with B4GALNT3: view

No data available for UniProtKB/Swiss-Prot for B4GALNT3 Gene

Publications for B4GALNT3 Gene

  1. Molecular cloning and characterization of a novel human beta 1,4-N- acetylgalactosaminyltransferase, beta 4GalNAc-T3, responsible for the synthesis of N,N'-diacetyllactosediamine, galNAc beta 1-4GlcNAc. (PMID: 12966086) Sato T. … Narimatsu H. (J. Biol. Chem. 2003) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Apical Golgi localization of N,N'-diacetyllactosediamine synthase, beta4GalNAc-T3, is responsible for LacdiNAc expression on gastric mucosa. (PMID: 16728562) Ikehara Y. … Narimatsu H. (Glycobiology 2006) 3 4
  4. Genome-wide association study identifies GPC5 as a novel genetic locus protective against sudden cardiac arrest. (PMID: 20360844) Arking D.E. … Chugh S.S. (PLoS ONE 2010) 3 48
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48

Products for B4GALNT3 Gene

  • antibodies-online peptides for B4GALNT3
  • antibodies-online antibodies for B4GALNT3
  • antibodies-online kits for B4GALNT3

Sources for B4GALNT3 Gene

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