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Aliases for B4GALT6 Gene

Aliases for B4GALT6 Gene

  • UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase, Polypeptide 6 2 3
  • UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,4-Galactosyltransferase 6 3 4
  • UDP-Gal:Glucosylceramide Beta-1,4-Galactosyltransferase 2 3
  • UDP-Gal:Beta-GlcNAc Beta-1,4-Galactosyltransferase 6 3 4
  • Beta-1,4-GalTase 6 3 4
  • Beta4Gal-T6 3 4
  • B4Gal-T6 3 4
  • Beta4GalT-VI 3
  • EC 2.4.1.- 4

External Ids for B4GALT6 Gene

Previous GeneCards Identifiers for B4GALT6 Gene

  • GC18M029226
  • GC18M029022
  • GC18M027455
  • GC18M027457
  • GC18M026059

Summaries for B4GALT6 Gene

Entrez Gene Summary for B4GALT6 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. The enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jul 2008]

GeneCards Summary for B4GALT6 Gene

B4GALT6 (UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase, Polypeptide 6) is a Protein Coding gene. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism. GO annotations related to this gene include transferase activity, transferring glycosyl groups and galactosyltransferase activity. An important paralog of this gene is B4GALT7.

UniProtKB/Swiss-Prot for B4GALT6 Gene

  • Required for the biosynthesis of glycosphingolipids.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B4GALT6 Gene

Genomics for B4GALT6 Gene

Regulatory Elements for B4GALT6 Gene

Epigenetics Products

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

Genomic Location for B4GALT6 Gene

Chromosome:
18
Start:
31,622,246 bp from pter
End:
31,725,286 bp from pter
Size:
103,041 bases
Orientation:
Minus strand

Genomic View for B4GALT6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for B4GALT6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B4GALT6 Gene

Proteins for B4GALT6 Gene

  • Protein details for B4GALT6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBX8-B4GT6_HUMAN
    Recommended name:
    Beta-1,4-galactosyltransferase 6
    Protein Accession:
    Q9UBX8
    Secondary Accessions:
    • O60514
    • Q6NT09

    Protein attributes for B4GALT6 Gene

    Size:
    382 amino acids
    Molecular mass:
    44914 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for B4GALT6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for B4GALT6 Gene

Proteomics data for B4GALT6 Gene at MOPED

Post-translational modifications for B4GALT6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for B4GALT6 Gene

No data available for DME Specific Peptides for B4GALT6 Gene

Domains & Families for B4GALT6 Gene

Gene Families for B4GALT6 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UBX8

UniProtKB/Swiss-Prot:

B4GT6_HUMAN :
  • Belongs to the glycosyltransferase 7 family.
Family:
  • Belongs to the glycosyltransferase 7 family.
genes like me logo Genes that share domains with B4GALT6: view

Function for B4GALT6 Gene

Molecular function for B4GALT6 Gene

GENATLAS Biochemistry:
UDP galactose
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=3 uM for glucosylceramide {ECO:0000269 PubMed:3099851}; KM=0.5 uM for UDP-galactose {ECO:0000269 PubMed:3099851}; Vmax=0.06 nmol/h/mg enzyme toward glucosylceramide {ECO:0000269 PubMed:3099851}; Vmax=86 nmol/h/mg enzyme toward UDP-galactose {ECO:0000269 PubMed:3099851};
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-galactose + glucosylceramide = UDP + lactosylceramide
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-galactose + beta-D-glucosyl-(1<->1)-ceramide = UDP + beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by EDTA.
UniProtKB/Swiss-Prot Function:
Required for the biosynthesis of glycosphingolipids.

Enzyme Numbers (IUBMB) for B4GALT6 Gene

Gene Ontology (GO) - Molecular Function for B4GALT6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008378 galactosyltransferase activity TAS 9597550
GO:0016757 transferase activity, transferring glycosyl groups --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with B4GALT6: view

Phenotypes for B4GALT6 Gene

genes like me logo Genes that share phenotypes with B4GALT6: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for B4GALT6

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for B4GALT6 Gene

Localization for B4GALT6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B4GALT6 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for B4GALT6 Gene COMPARTMENTS Subcellular localization image for B4GALT6 gene
Compartment Confidence
golgi apparatus 5

Gene Ontology (GO) - Cellular Components for B4GALT6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0016021 integral component of membrane IEA --
GO:0032580 Golgi cisterna membrane IEA --
genes like me logo Genes that share ontologies with B4GALT6: view

Pathways & Interactions for B4GALT6 Gene

genes like me logo Genes that share pathways with B4GALT6: view

Pathways by source for B4GALT6 Gene

1 Qiagen pathway for B4GALT6 Gene
1 BioSystems pathway for B4GALT6 Gene

UniProtKB/Swiss-Prot Q9UBX8-B4GT6_HUMAN

  • Pathway: Protein modification; protein glycosylation

Interacting Proteins for B4GALT6 Gene

Gene Ontology (GO) - Biological Process for B4GALT6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0018146 keratan sulfate biosynthetic process TAS --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0030203 glycosaminoglycan metabolic process TAS --
GO:0042339 keratan sulfate metabolic process TAS --
genes like me logo Genes that share ontologies with B4GALT6: view

No data available for SIGNOR curated interactions for B4GALT6 Gene

Drugs & Compounds for B4GALT6 Gene

(5) Drugs for B4GALT6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine 5'-diphosphate Experimental Pharma 0
Uridine diphosphategalactose Experimental Pharma 0
Manganese Pharma 30
Calcium Nutra 0
Magnesium Nutra 0

(41) Additional Compounds for B4GALT6 Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
glucosylceramide
  • 1-O-b-D-Glucopyranosyl-Ceramide
  • 1-O-beta-delta-Glucopyranosyl-Ceramide
  • Ganglioside GL1a
  • Gaucher cerebroside
  • Glc-beta1->1'Cer
85305-87-9
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
genes like me logo Genes that share compounds with B4GALT6: view

Transcripts for B4GALT6 Gene

Unigene Clusters for B4GALT6 Gene

UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for B4GALT6

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for B4GALT6 Gene

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

Relevant External Links for B4GALT6 Gene

GeneLoc Exon Structure for
B4GALT6
ECgene alternative splicing isoforms for
B4GALT6

Expression for B4GALT6 Gene

mRNA expression in normal human tissues for B4GALT6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for B4GALT6 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.9), Brain - Frontal Cortex (BA9) (x4.4), and Brain - Anterior cingulate cortex (BA24) (x4.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for B4GALT6 Gene



SOURCE GeneReport for Unigene cluster for B4GALT6 Gene Hs.591063

mRNA Expression by UniProt/SwissProt for B4GALT6 Gene

Q9UBX8-B4GT6_HUMAN
Tissue specificity: High expression in brain and adrenal gland, lower in liver, lung, colon and peripheral white blood cells
genes like me logo Genes that share expression patterns with B4GALT6: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues and Protein tissue co-expression partners for B4GALT6 Gene

Orthologs for B4GALT6 Gene

This gene was present in the common ancestor of animals.

Orthologs for B4GALT6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia B4GALT6 35
  • 92.5 (n)
  • 98.17 (a)
B4GALT6 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia B4GALT6 35
  • 93.46 (n)
  • 98.17 (a)
B4GALT6 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia B4galt6 35
  • 88.31 (n)
  • 94.76 (a)
B4galt6 16
B4galt6 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia B4GALT6 35
  • 99.56 (n)
  • 99.74 (a)
B4GALT6 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia B4galt6 35
  • 86.91 (n)
  • 94.24 (a)
oppossum
(Monodelphis domestica)
Mammalia B4GALT6 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia B4GALT6 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves B4GALT6 35
  • 82.97 (n)
  • 91.03 (a)
B4GALT6 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia B4GALT6 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia b4galt5 35
  • 75.77 (n)
  • 80.58 (a)
Str.17604 35
zebrafish
(Danio rerio)
Actinopterygii b4galt6 35
  • 73.39 (n)
  • 81.43 (a)
zgc55730 35
b4galt6 36
  • 81 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:GH13356 37
  • 38 (a)
CG14517 37
  • 38 (a)
beta4GalT7 36
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea W02B12.11 37
  • 41 (a)
sqv-3 36
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 57 (a)
OneToMany
Species with no ortholog for B4GALT6:
  • 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 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 B4GALT6 Gene

ENSEMBL:
Gene Tree for B4GALT6 (if available)
TreeFam:
Gene Tree for B4GALT6 (if available)

Paralogs for B4GALT6 Gene

Paralogs for B4GALT6 Gene

(5) SIMAP similar genes for B4GALT6 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with B4GALT6: view

Variants for B4GALT6 Gene

Sequence variations from dbSNP and Humsavar for B4GALT6 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs140776 -- 31,681,116(-) ATTGA(-/TTGT/TTTG)AGGTA intron-variant
rs718780 -- 31,675,298(+) AAACA(C/T)GTTTA intron-variant
rs895888 -- 31,648,224(+) AATCT(A/G)AGATT intron-variant
rs948527 -- 31,648,311(+) TTACC(C/T)AGCAG intron-variant
rs968325 -- 31,682,464(-) AGGCA(A/G)TTAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for B4GALT6 Gene

Variant ID Type Subtype PubMed ID
nsv909519 CNV Gain 21882294
nsv819046 CNV Loss 19587683
esv2716936 CNV Deletion 23290073
esv2577449 CNV Deletion 19546169

Variation tolerance for B4GALT6 Gene

Residual Variation Intolerance Score: 30.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.65; 45.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for B4GALT6 Gene

HapMap Linkage Disequilibrium report
B4GALT6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B4GALT6 Gene

Disorders for B4GALT6 Gene

Relevant External Links for B4GALT6

Genetic Association Database (GAD)
B4GALT6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
B4GALT6
genes like me logo Genes that share disorders with B4GALT6: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for B4GALT6 Gene

Publications for B4GALT6 Gene

  1. Use of a novel anti-proliferative compound coated on a biopolymer to mitigate platelet-derived growth factor-induced proliferation in human aortic smooth muscle cells: comparison with sirolimus. (PMID: 18853254) Tang Y.D. … Boey F.Y. (Glycoconj. J. 2009) 23 67
  2. VEGF recruits lactosylceramide to induce endothelial cell adhesion molecule expression and angiogenesis in vitro and in vivo. (PMID: 19219548) Kolmakova A. … Chatterjee S. (Glycoconj. J. 2009) 23 67
  3. Simultaneous quantification of glucosylceramide and galactosylceramide by normal-phase HPLC using O-phtalaldehyde derivatives prepared with sphingolipid ceramide N-deacylase. (PMID: 19411660) Zama K. … Ito M. (Glycobiology 2009) 23 67
  4. Evidence for disruption of sphingolipid metabolism in schizophrenia. (PMID: 18683247) Narayan S. … Thomas E.A. (J. Neurosci. Res. 2009) 23 67
  5. The Yin and Yang of lactosylceramide metabolism: implications in cell function. (PMID: 18077097) Chatterjee S. … Pandey A. (Biochim. Biophys. Acta 2008) 23 67

Products for B4GALT6 Gene

Sources for B4GALT6 Gene

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