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Aliases for B4GALNT3 Gene

Aliases for B4GALNT3 Gene

  • Beta-1,4-N-Acetyl-Galactosaminyltransferase 3 2 3 5
  • 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-Acetyl-Galactosaminyl Transferase 3 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-Galactosaminyltransferase 3) is a Protein Coding gene. Among its related pathways are Metabolism. 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 CIViC summary , 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

Enhancers for B4GALNT3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G000553 1.2 Ensembl ENCODE dbSUPER 69.1 +93.5 93455 1.2 PKNOX1 ZSCAN4 MNT RAD21 THRB GABPA ZFP69B POLR2A ETV6 HNF4A B4GALNT3 PIR41391 GC12M000554
GH12G000480 1.4 Ensembl ENCODE dbSUPER 43.2 +20.9 20896 1.9 HDGF PKNOX1 KLF17 GLIS2 EGR2 MIER1 ZBTB11 ZNF398 ZNF592 ZNF589 B4GALNT3 GC12P000495 PIR35231
GH12G000468 1.4 Ensembl ENCODE dbSUPER 31.1 +8.7 8660 1.1 ELF3 FOXA2 ATF1 MLX ARID4B DMAP1 ZSCAN9 ZNF48 RARA ZNF335 B4GALNT3 PIR35231 GC12P000495
GH12G000537 1.8 FANTOM5 Ensembl ENCODE dbSUPER 22.3 +78.5 78526 3.1 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 TCF12 ZNF121 SLC30A9 B4GALNT3 SLC6A12 ERC1 PIR41391 GC12M000504
GH12G000464 1.3 FANTOM5 ENCODE dbSUPER 28.5 +5.1 5116 1.8 SOX13 FOXA2 SAP130 RARA ZFHX2 NR2F6 ZNF600 CREM ZBTB20 EGR2 B4GALNT3 CCDC77 PIR35231 GC12P000495
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around B4GALNT3 on UCSC Golden Path with GeneCards custom track

Promoters for B4GALNT3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000047530 36 1201 ATF1 ARNT ARID4B SIN3A DMAP1 ZNF48 ZNF2 SLC30A9 GLIS2 ZNF143

Genomic Location for B4GALNT3 Gene

Chromosome:
12
Start:
460,364 bp from pter
End:
563,509 bp from pter
Size:
103,146 bases
Orientation:
Plus strand

Genomic View for B4GALNT3 Gene

Genes around B4GALNT3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B4GALNT3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for B4GALNT3 Gene

  • Glycosylation at posLast=7070
  • 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 & Families for B4GALNT3 Gene

Gene Families for B4GALNT3 Gene

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 :
  • Belongs to the chondroitin N-acetylgalactosaminyltransferase family.
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:0016740 transferase activity IEA --
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

Animal Models for B4GALNT3 Gene

MGI Knock Outs for B4GALNT3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets 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
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 B4GALNT3 gene
Compartment Confidence
golgi apparatus 5
mitochondrion 2
plasma membrane 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for B4GALNT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0032580 Golgi cisterna membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with B4GALNT3: view

Pathways & Interactions for B4GALNT3 Gene

SuperPathways for B4GALNT3 Gene

SuperPathway Contained pathways
1 Metabolism
genes like me logo Genes that share pathways with B4GALNT3: view

Pathways by source for B4GALNT3 Gene

1 KEGG pathway for B4GALNT3 Gene

Interacting Proteins for B4GALNT3 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000266383%0d%0a9606.ENSP00000198536%0d%0a9606.ENSP00000243776%0d%0a9606.ENSP00000035307%0d%0a
Selected Interacting proteins: ENSP00000266383 Q6L9W6-B4GN3_HUMAN for B4GALNT3 Gene via STRING IID

Gene Ontology (GO) - Biological Process for B4GALNT3 Gene

None

No data available for SIGNOR curated interactions for B4GALNT3 Gene

Drugs & Compounds for B4GALNT3 Gene

(2) Drugs for B4GALNT3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine-5'-Diphosphate Experimental Pharma 0
Chondroitin Nutra 44

(3) Additional Compounds for B4GALNT3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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
UDP-N-acetyl-alpha-D-galactosamine
Uridine diphosphate-N-acetylgalactosamine
  • UDP-N-Acetyl-D-galactosamine
  • UDP-N-Acetyl-delta-galactosamine
  • UDP-N-Acetylgalactosamine
  • Uridine 5'-diphospho-N-acetylgalactosamine
  • Uridine diphosphate-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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x7.6).

Protein differential expression in normal tissues from HIPED for B4GALNT3 Gene

This gene is overexpressed in Liver (47.2) and Bone (19.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for B4GALNT3 Gene



Protein tissue co-expression partners for B4GALNT3 Gene

NURSA nuclear receptor signaling pathways regulating expression of B4GALNT3 Gene:

B4GALNT3

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 expression patterns with B4GALNT3: view

Primer Products

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for B4GALNT3 Gene

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 34 35
  • 99.27 (n)
dog
(Canis familiaris)
Mammalia B4GALNT3 34 35
  • 88.16 (n)
mouse
(Mus musculus)
Mammalia B4galnt3 34 16 35
  • 84.1 (n)
cow
(Bos Taurus)
Mammalia B4GALNT3 34 35
  • 83.71 (n)
rat
(Rattus norvegicus)
Mammalia B4galnt3 34
  • 83.2 (n)
oppossum
(Monodelphis domestica)
Mammalia B4GALNT3 35
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia B4GALNT3 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves B4GALNT3 34 35
  • 69.33 (n)
lizard
(Anolis carolinensis)
Reptilia B4GALNT3 35
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia b4galnt3 34
  • 64.66 (n)
Str.11923 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.15475 34
zebrafish
(Danio rerio)
Actinopterygii b4galnt3b 34 35
  • 59.56 (n)
B4GALNT3 (2 of 3) 35
  • 41 (a)
OneToMany
b4galnt3a 35
  • 40 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG43313 35
  • 12 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mig-22 35
  • 11 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.937 35
  • 15 (a)
OneToMany
Species where no ortholog for B4GALNT3 was found in the sources mined by GeneCards:
  • 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

(1) 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
rs1000002048 -- 521,584(+) TACCC(A/C/G)CCTCT intron-variant
rs1000003491 -- 482,146(+) TAGGG(A/G/T)TATAA intron-variant
rs1000004363 -- 549,365(+) CAGAA(G/T)GCATG intron-variant
rs1000059183 -- 542,146(+) GTAAC(A/G)GCTGC intron-variant
rs1000062964 -- 505,447(+) CCAGA(A/G)GGGAA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1332n100 CNV loss 25217958
dgv1333n100 CNV gain 25217958
dgv2247n54 CNV loss 21841781
dgv2248n54 CNV loss 21841781
dgv2249n54 CNV loss 21841781
dgv2250n54 CNV loss 21841781
dgv2251n54 CNV gain 21841781
esv1129945 CNV deletion 17803354
esv1142574 CNV deletion 17803354
esv1181627 CNV insertion 17803354
esv1270072 CNV deletion 17803354
esv21735 CNV loss 19812545
esv2210414 CNV deletion 18987734
esv2745354 CNV deletion 23290073
esv2745355 CNV deletion 23290073
esv2745356 CNV deletion 23290073
esv2745357 CNV deletion 23290073
esv2745358 CNV deletion 23290073
esv2745359 CNV deletion 23290073
esv2759875 CNV gain+loss 17122850
esv2762957 CNV gain 21179565
esv3374033 CNV duplication 20981092
esv3628236 CNV gain 21293372
esv3628239 CNV gain 21293372
esv3628240 CNV loss 21293372
esv3628241 CNV gain 21293372
esv3628242 CNV loss 21293372
esv3628243 CNV loss 21293372
esv3628244 CNV gain 21293372
esv3628245 CNV gain 21293372
esv3892121 CNV gain 25118596
esv3892123 CNV gain 25118596
nsv1040579 CNV gain 25217958
nsv1042529 CNV gain 25217958
nsv1046514 CNV gain 25217958
nsv1050781 CNV loss 25217958
nsv468948 CNV gain 19166990
nsv468951 CNV gain 19166990
nsv470254 CNV gain 18288195
nsv519441 CNV gain 19592680
nsv556876 CNV gain 21841781
nsv556877 CNV loss 21841781
nsv556885 CNV gain 21841781
nsv556886 CNV loss 21841781
nsv556887 CNV gain 21841781
nsv8885 CNV loss 18304495
nsv8886 CNV loss 18304495
nsv8887 CNV gain 18304495
nsv952780 CNV deletion 24416366

Variation tolerance for B4GALNT3 Gene

Residual Variation Intolerance Score: 87.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.56; 96.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for B4GALNT3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
B4GALNT3

No disorders were found for B4GALNT3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 64
  2. 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 46 64
  3. 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 46 64
  4. 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 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for B4GALNT3 Gene

Sources for B4GALNT3 Gene

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