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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
  • Beta-1,4-Galactosyltransferase 6 3
  • 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. Diseases associated with B4GALT6 include prostate carcinoma in situ. Among its related pathways are Disease and Sphingolipid metabolism. GO annotations related to this gene include galactosyltransferase activity and UDP-galactose:glucosylceramide beta-1,4-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

Start:
31,622,246 bp from pter
End:
31,726,593 bp from pter
Size:
104,348 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

  • Glycosylation at Asn71, Asn75, Asn83, Asn84, Asn99, Asn122, Asn307, and Asn367
  • Modification sites at PhosphoSitePlus

Other Protein References for B4GALT6 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for B4GALT6 Gene

Domains for B4GALT6 Gene

Gene Families for B4GALT6 Gene

HGNC:
  • B4GT :Beta 4-glycosyltransferases

Graphical View of Domain Structure for InterPro Entry

Q9UBX8

UniProtKB/Swiss-Prot:

B4GT6_HUMAN :
  • Q9UBX8
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

MGI mutant phenotypes for B4GALT6:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with B4GALT6: view

Animal Model Products

miRNA for B4GALT6 Gene

miRTarBase miRNAs that target B4GALT6

miRNA 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 Targeting 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
extracellular 2
mitochondrion 2
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
lysosome 1
plasma membrane 1

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 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

Compounds for B4GALT6 Gene

(45) HMDB Compounds for B4GALT6 Gene

Compound Synonyms Cas Number PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • Sulfatide (d18:1/12:0)
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • Sulfatide (d18:1/14:0)
Not Available
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • Sulfatide (d18:1/16:0)
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • Sulfatide (d18:1/18:0)
244215-65-4
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))
  • Sulfatide (d18:1/18:1(9Z))
Not Available

(7) Novoseek inferred chemical compound relationships for B4GALT6 Gene

Compound -log(P) Hits PubMed IDs
laccer 96.7 25
lactosylceramide 96.4 24
glucosylceramide 92.4 14
glycosphingolipid 86 2
shiga toxin 81.5 1
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:

miRNA Products

Inhibitory RNA Products

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

Primer Products

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 (4.9), Brain - Frontal Cortex (BA9) (4.4), and Brain - Anterior cingulate cortex (BA24) (4.1).

Integrated Proteomics: protein expression 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 expressions with B4GALT6: view

In Situ Assay Products

Orthologs for B4GALT6 Gene

This gene was present in the common ancestor of animals.

Orthologs for B4GALT6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia B4GALT6 35
  • 99.56 (n)
  • 99.74 (a)
B4GALT6 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia B4GALT6 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia B4GALT6 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia B4galt6 35
  • 86.91 (n)
  • 94.24 (a)
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)
b4galt6 36
  • 81 (a)
OneToOne
zgc55730 35
fruit fly
(Drosophila melanogaster)
Insecta beta4GalT7 36
  • 26 (a)
OneToMany
BcDNA:GH13356 37
  • 38 (a)
CG14517 37
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea sqv-3 36
  • 26 (a)
OneToMany
W02B12.11 37
  • 41 (a)
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

Selected 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

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

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for B4GALT6 Gene including...

Search for B4GALT6 Gene in MalaCards »

(2) University of Copenhagen DISEASES for B4GALT6 Gene

Relevant External Links for B4GALT6

Genetic Association Database (GAD)
B4GALT6
genes like me logo Genes that share disorders with B4GALT6: view

No data available for UniProtKB/Swiss-Prot for B4GALT6 Gene

Publications for B4GALT6 Gene

  1. cDNA cloning and expression of human lactosylceramide synthase. (PMID: 10320813) Takizawa M. … Matsuo N. (Biochim. Biophys. Acta 1999) 3 4 23
  2. The expanding beta 4-galactosyltransferase gene family: messages from the databanks. (PMID: 9597550) Lo N.-W. … Shaper N.L. (Glycobiology 1998) 2 3 4
  3. Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions. (PMID: 10580128) Amado M. … Clausen H. (Biochim. Biophys. Acta 1999) 3 4
  4. Molecular cloning, genomic organization, and mapping of beta 4GalT- VIb, a brain abundant member of beta 4-galactosyltransferase gene family, to human chromosome 18q12.1. (PMID: 12180132) Fan Y. … Zhao S. (DNA Seq. 2002) 2 3
  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 B4GALT6 Gene

Sources for B4GALT6 Gene

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