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Aliases for B4GALT3 Gene

Aliases for B4GALT3 Gene

  • Beta-1,4-Galactosyltransferase 3 2 3 5
  • UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,4-Galactosyltransferase 3 3 4
  • UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase, Polypeptide 3 2 3
  • UDP-Gal:Beta-GlcNAc Beta-1,4-Galactosyltransferase 3 3 4
  • Beta-1,4-GalTase 3 3 4
  • Beta4Gal-T3 3 4
  • B4Gal-T3 3 4
  • Beta-N-Acetylglucosaminyl-Glycolipid Beta-1,4-Galactosyltransferase 3 3
  • EC 2.4.1.- 4

External Ids for B4GALT3 Gene

Previous GeneCards Identifiers for B4GALT3 Gene

  • GC01M158852
  • GC01M156873
  • GC01M157918
  • GC01M158357
  • GC01M157954
  • GC01M159407
  • GC01M161141
  • GC01M132498

Summaries for B4GALT3 Gene

Entrez Gene Summary for B4GALT3 Gene

  • This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]

GeneCards Summary for B4GALT3 Gene

B4GALT3 (Beta-1,4-Galactosyltransferase 3) is a Protein Coding gene. Among its related pathways are Keratan sulfate/keratin metabolism and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include galactosyltransferase activity and N-acetyllactosamine synthase activity. An important paralog of this gene is B4GALT1.

UniProtKB/Swiss-Prot for B4GALT3 Gene

  • Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids.

Gene Wiki entry for B4GALT3 Gene

Additional gene information for B4GALT3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B4GALT3 Gene

Genomics for B4GALT3 Gene

GeneHancer (GH) Regulatory Elements for B4GALT3 Gene

Promoters and enhancers for B4GALT3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I161175 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.1 1078 3.2 HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 B4GALT3 USP21 LOC100287049 DUSP12 NIT1 PPOX
GH01I161130 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 41 +45.6 45587 3.9 FEZF1 DMAP1 YBX1 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 SP3 DEDD USP21 DUSP12 PPOX LOC100287049 B4GALT3 DCAF8 NCSTN ATF6 LOC148430
GH01I161096 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 36.4 +80.3 80290 2.9 YBX1 FEZF1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 MCM3 KLHDC9 USP21 DUSP12 PPOX LOC100287049 DEDD NCSTN RPSAP18 LOC148430 DCAF8
GH01I161011 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE dbSUPER 29.9 +160.8 160755 11.7 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 DUSP12 USP21 LOC100287049 DEDD PPOX TSTD1 LOC148430 B4GALT3 ARHGAP30 KLHDC9
GH01I161398 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 30.2 -221.5 -221470 3.2 CLOCK MLX DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ENSG00000283696 PIR55576 RNU6-481P TRV-CAC1-1 USP21 SDHC PPOX ATF6 B4GALT3 DEDD
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around B4GALT3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the B4GALT3 gene promoter:

Genomic Locations for B4GALT3 Gene

Genomic Locations for B4GALT3 Gene
chr1:161,171,310-161,177,968
(GRCh38/hg38)
Size:
6,659 bases
Orientation:
Minus strand
chr1:161,141,100-161,147,758
(GRCh37/hg19)

Genomic View for B4GALT3 Gene

Genes around B4GALT3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B4GALT3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B4GALT3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B4GALT3 Gene

Proteins for B4GALT3 Gene

  • Protein details for B4GALT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60512-B4GT3_HUMAN
    Recommended name:
    Beta-1,4-galactosyltransferase 3
    Protein Accession:
    O60512
    Secondary Accessions:
    • D3DVG3
    • O60910
    • Q9BPZ4
    • Q9H8T2

    Protein attributes for B4GALT3 Gene

    Size:
    393 amino acids
    Molecular mass:
    43928 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for B4GALT3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for B4GALT3 Gene

Post-translational modifications for B4GALT3 Gene

  • Glycosylation at Thr45, Ser49, posLast=5757, Asn166, Asn337, and posLast=385385

No data available for DME Specific Peptides for B4GALT3 Gene

Domains & Families for B4GALT3 Gene

Gene Families for B4GALT3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

O60512

UniProtKB/Swiss-Prot:

B4GT3_HUMAN :
  • Belongs to the glycosyltransferase 7 family.
Family:
  • Belongs to the glycosyltransferase 7 family.
genes like me logo Genes that share domains with B4GALT3: view

Function for B4GALT3 Gene

Molecular function for B4GALT3 Gene

GENATLAS Biochemistry:
UDP galactose
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=63 uM for GlcNAc-B-S-pNP {ECO:0000269 PubMed:11588157};
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-galactose + N-acetyl-beta-D-glucosaminylglycopeptide = UDP + beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminylglycopeptide.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-galactose + N-acetyl-D-glucosamine = UDP + N-acetyllactosamine.
UniProtKB/Swiss-Prot Function:
Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids.

Enzyme Numbers (IUBMB) for B4GALT3 Gene

Phenotypes From GWAS Catalog for B4GALT3 Gene

Gene Ontology (GO) - Molecular Function for B4GALT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003831 beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity IEA,TAS --
GO:0003945 N-acetyllactosamine synthase activity IEA --
GO:0008378 galactosyltransferase activity IDA 9405390
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with B4GALT3: view
genes like me logo Genes that share phenotypes with B4GALT3: view

Animal Model Products

miRNA for B4GALT3 Gene

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for B4GALT3 Gene

Localization for B4GALT3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B4GALT3 Gene

Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Trans cisternae of Golgi stack.

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 B4GALT3 gene
Compartment Confidence
extracellular 5
cytosol 5
golgi apparatus 5
mitochondrion 2
plasma membrane 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for B4GALT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA,IDA --
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with B4GALT3: view

Pathways & Interactions for B4GALT3 Gene

genes like me logo Genes that share pathways with B4GALT3: view

UniProtKB/Swiss-Prot O60512-B4GT3_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for B4GALT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006486 protein glycosylation IEA --
GO:0006682 galactosylceramide biosynthetic process IDA 9405390
GO:0018146 keratan sulfate biosynthetic process TAS --
genes like me logo Genes that share ontologies with B4GALT3: view

No data available for SIGNOR curated interactions for B4GALT3 Gene

Drugs & Compounds for B4GALT3 Gene

(4) Drugs for B4GALT3 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
N-Acetyl-D-glucosamine Approved, Investigational Nutra Target 0
Manganese Approved Nutra 37
Uridine diphosphategalactose Experimental Pharma 0
Uridine-5'-Diphosphate Experimental Pharma 0

(1) Additional Compounds for B4GALT3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
n-acetyllactosamine
  • beta-D-Galactosyl-1,4-N-acetyl-beta-D-glucosamine
  • beta-D-Galactosyl-1,4-N-acetyl-D-glucosamine
  • beta-delta-Galactosyl-1,4-N-acetyl-beta-delta-glucosamine
  • beta-delta-Galactosyl-1,4-N-acetyl-delta-glucosamine
  • D-Galactopyranosyl
32181-59-2
genes like me logo Genes that share compounds with B4GALT3: view

Transcripts for B4GALT3 Gene

Unigene Clusters for B4GALT3 Gene

UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for B4GALT3 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b · 11c ^ 12a · 12b · 12c ^ 13a · 13b ·
SP1: - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - -
SP6: - - - - - - -
SP7: - - - - - - - - -
SP8: - - - - - - - - - -
SP9: - - - - -
SP10: - - - - - - - - - - - - - - - -
SP11: - - - - - - - - - - - -
SP12: - - - - - -
SP13: - - - - - -
SP14: - - - - - -
SP15: - - - - -
SP16:
SP17: - - -
SP18: - - -
SP19: - - - - - -
SP20: - - -
SP21: - - -
SP22:

ExUns: 13c · 13d ^ 14 ^ 15a · 15b ^ 16a · 16b · 16c
SP1: - -
SP2: -
SP3: -
SP4: -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16: -
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:

Relevant External Links for B4GALT3 Gene

GeneLoc Exon Structure for
B4GALT3
ECgene alternative splicing isoforms for
B4GALT3

Expression for B4GALT3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for B4GALT3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for B4GALT3 Gene

This gene is overexpressed in Testis (61.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for B4GALT3 Gene



Protein tissue co-expression partners for B4GALT3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of B4GALT3 Gene:

B4GALT3

SOURCE GeneReport for Unigene cluster for B4GALT3 Gene:

Hs.321231

mRNA Expression by UniProt/SwissProt for B4GALT3 Gene:

O60512-B4GT3_HUMAN
Tissue specificity: Found in various tissues. Highest expression in placenta, prostate, testis, ovary, intestine and muscle, and in fetal brain.

Evidence on tissue expression from TISSUES for B4GALT3 Gene

  • Nervous system(4.9)
  • Eye(4.3)
  • Lung(2.7)
  • Skin(2.7)
genes like me logo Genes that share expression patterns with B4GALT3: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for B4GALT3 Gene

Orthologs for B4GALT3 Gene

This gene was present in the common ancestor of animals.

Orthologs for B4GALT3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia B4GALT3 33 34
  • 99.41 (n)
dog
(Canis familiaris)
Mammalia B4GALT3 33 34
  • 91.86 (n)
cow
(Bos Taurus)
Mammalia B4GALT3 33 34
  • 91.01 (n)
oppossum
(Monodelphis domestica)
Mammalia B4GALT3 34
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia B4galt3 33
  • 89.14 (n)
mouse
(Mus musculus)
Mammalia B4galt3 33 16 34
  • 88.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia B4GALT3 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves B4GALT3 33 34
  • 58.48 (n)
lizard
(Anolis carolinensis)
Reptilia B4GALT3 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486704 33
  • 70.8 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC561756 33
  • 63.17 (n)
BX323050.1 34
  • 57 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:GH13356 35
  • 41 (a)
CG14517 35
  • 40 (a)
beta4GalT7 34
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y73E7A.7 35
  • 48 (a)
W02B12.11 35
  • 34 (a)
sqv-3 34
  • 26 (a)
OneToMany
Species where no ortholog for B4GALT3 was found in the sources mined by GeneCards:
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for B4GALT3 Gene

ENSEMBL:
Gene Tree for B4GALT3 (if available)
TreeFam:
Gene Tree for B4GALT3 (if available)

Paralogs for B4GALT3 Gene

Paralogs for B4GALT3 Gene

(5) SIMAP similar genes for B4GALT3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with B4GALT3: view

Variants for B4GALT3 Gene

Sequence variations from dbSNP and Humsavar for B4GALT3 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1057518798 pathogenic, Abdominal colic, Abnormal blistering of the skin, Porphyrinuria 161,170,939(-) G/A downstream_transcript_variant
rs754313121 uncertain-significance, Variegate porphyria 161,171,045(-) C/T downstream_transcript_variant
rs1000032128 -- 161,172,242(-) T/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1000092132 -- 161,173,729(-) T/C downstream_transcript_variant, genic_downstream_transcript_variant, splice_acceptor_variant
rs1000106201 -- 161,173,842(-) C/A downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant

Variation tolerance for B4GALT3 Gene

Residual Variation Intolerance Score: 26.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.57; 30.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for B4GALT3 Gene

Human Gene Mutation Database (HGMD)
B4GALT3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
B4GALT3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for B4GALT3 Gene

Disorders for B4GALT3 Gene

Additional Disease Information for B4GALT3

No disorders were found for B4GALT3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for B4GALT3 Gene

Publications for B4GALT3 Gene

  1. A family of human beta4-galactosyltransferases. Cloning and expression of two novel UDP-galactose:beta-n-acetylglucosamine beta1, 4-galactosyltransferases, beta4Gal-T2 and beta4Gal-T3. (PMID: 9405390) Almeida R … Clausen H (The Journal of biological chemistry 1997) 2 3 4 22 58
  2. The expanding beta 4-galactosyltransferase gene family: messages from the databanks. (PMID: 9597550) Lo NW … Shaper NL (Glycobiology 1998) 2 3 4 58
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for B4GALT3 Gene

Sources for B4GALT3 Gene