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Aliases for B4GALT6 Gene

Aliases for B4GALT6 Gene

  • Beta-1,4-Galactosyltransferase 6 2 3 5
  • UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,4-Galactosyltransferase 6 3 4
  • UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase, Polypeptide 6 2 3
  • 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

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 (Beta-1,4-Galactosyltransferase 6) is a Protein Coding gene. Among its related pathways are O-linked glycosylation and Glycosaminoglycan metabolism. GO annotations related to this gene include transferase activity, transferring glycosyl groups and galactosyltransferase activity. An important paralog of this gene is B4GALT5.

UniProtKB/Swiss-Prot for B4GALT6 Gene

  • Required for the biosynthesis of glycosphingolipids.

Additional gene information for B4GALT6 Gene

No data available for CIViC summary , 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

Enhancers for B4GALT6 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
GH18H031645 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.1 +77.5 77546 3 PKNOX1 TBL1XR1 BMI1 FEZF1 BATF ZNF143 ATF7 FOS ETV6 RUNX3 B4GALT6 RNF125 GC18M031541 GC18P031684
GH18H031581 0.9 Ensembl ENCODE 16.8 +143.4 143414 0 FOXA2 HLF MAX CEBPG REST RAD21 FOXA1 NR2F2 YY1 JUND B4GALT6 SLC25A52 TTR DSG2-AS1
GH18H031565 0.8 ENCODE 11.2 +158.7 158686 1 ELF3 DMAP1 THRB RAD21 RARA CREM MXD4 REST PPARG NFIL3 TTR B4GALT6 SLC25A52 TRAPPC8 DSG2 DSG2-AS1
GH18H031677 1.5 Ensembl ENCODE dbSUPER 5.9 +42.8 42821 10 PKNOX1 FOXA2 ARNT ZNF133 SIN3A GLIS2 ZNF143 ZNF207 FOS RUNX3 TTR B4GALT6 GC18P031684 GC18M031541
GH18H031509 1.9 FANTOM5 Ensembl ENCODE dbSUPER 4.3 +213.1 213136 4 FOXA2 ATF1 MLX ARID4B DMAP1 ZNF143 ATF7 FOS SP5 MXD4 ENSG00000266521 B4GALT6 DSG2 DSC3 DSG1 DSC2 DSG2-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around B4GALT6 on UCSC Golden Path with GeneCards custom track

Promoters for B4GALT6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000101983 885 799 RFX1 JUND HNF4A REST NR2F2 YY1

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

Genes around B4GALT6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B4GALT6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for B4GALT6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for B4GALT6 Gene

Domains & Families for B4GALT6 Gene

Gene Families for B4GALT6 Gene

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

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-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.

Phenotypes From GWAS Catalog for B4GALT6 Gene

Gene Ontology (GO) - Molecular Function for B4GALT6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003831 beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity TAS --
GO:0008378 galactosyltransferase activity IDA 10320813
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with B4GALT6: view
genes like me logo Genes that share phenotypes with B4GALT6: view

Animal Model Products

  • Taconic Biosciences Mouse Models for B4GALT6

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for B4GALT6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
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 B4GALT6 gene
Compartment Confidence
golgi apparatus 5
mitochondrion 2
plasma membrane 1
extracellular 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for B4GALT6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0032580 Golgi cisterna membrane IEA --
genes like me logo Genes that share ontologies with B4GALT6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for B4GALT6 Gene

Pathways & Interactions for B4GALT6 Gene

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

Pathways by source for B4GALT6 Gene

2 KEGG pathways for B4GALT6 Gene
1 Qiagen pathway for B4GALT6 Gene

UniProtKB/Swiss-Prot Q9UBX8-B4GT6_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for B4GALT6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001572 lactosylceramide biosynthetic process IDA 10320813
GO:0005975 carbohydrate metabolic process IEA --
GO:0006486 protein glycosylation IEA --
GO:0018146 keratan sulfate biosynthetic 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

(7) Drugs for B4GALT6 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 35
Uridine diphosphategalactose Experimental Pharma 0
Uridine-5'-Diphosphate Experimental Pharma 0
calcium Nutra 0
Magnesium Nutra 0

(39) 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for B4GALT6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for B4GALT6 Gene



NURSA nuclear receptor signaling pathways regulating expression of B4GALT6 Gene:

B4GALT6

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.

Evidence on tissue expression from TISSUES for B4GALT6 Gene

  • Nervous system(4.4)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with B4GALT6: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia B4GALT6 33 34
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia B4GALT6 33 34
  • 93.46 (n)
cow
(Bos Taurus)
Mammalia B4GALT6 33 34
  • 92.5 (n)
oppossum
(Monodelphis domestica)
Mammalia B4GALT6 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia B4galt6 33 16 34
  • 88.31 (n)
rat
(Rattus norvegicus)
Mammalia B4galt6 33
  • 86.91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia B4GALT6 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves B4GALT6 33 34
  • 82.97 (n)
lizard
(Anolis carolinensis)
Reptilia B4GALT6 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia b4galt5 33
  • 75.77 (n)
Str.17604 33
zebrafish
(Danio rerio)
Actinopterygii b4galt6 33 34
  • 73.39 (n)
zgc55730 33
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:GH13356 35
  • 38 (a)
CG14517 35
  • 38 (a)
beta4GalT7 34
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea W02B12.11 35
  • 41 (a)
sqv-3 34
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 57 (a)
OneToMany
Species where no ortholog for B4GALT6 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 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
rs1000005475 -- 31,705,647(+) CCTCC(C/T)AAAGT intron-variant
rs1000017265 -- 31,648,014(+) ACCAC(C/T)TGCTA intron-variant
rs1000022203 -- 31,673,763(+) CTAAT(A/T)CCCAG intron-variant
rs1000023451 -- 31,641,387(+) TTAAT(-/GA)GAGGG intron-variant
rs1000031247 -- 31,717,684(+) ATGTG(G/T)TGGCT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2577449 CNV deletion 19546169
esv2716936 CNV deletion 23290073
esv3642131 CNV loss 21293372
esv3893086 CNV gain 25118596
nsv1118784 CNV deletion 24896259
nsv819046 CNV loss 19587683

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

No disorders were found for B4GALT6 Gene.

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

Publications for B4GALT6 Gene

  1. cDNA cloning and expression of human lactosylceramide synthase. (PMID: 10320813) Takizawa M … Matsuo N (Biochimica et biophysica acta 1999) 3 4 22 60
  2. The expanding beta 4-galactosyltransferase gene family: messages from the databanks. (PMID: 9597550) Lo NW … Shaper NL (Glycobiology 1998) 2 3 4 60
  3. Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. (PMID: 19451621) Landers JE … Brown RH (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 45 60
  4. 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 60
  5. 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 sequence : the journal of DNA sequencing and mapping 2002) 2 3 60

Products for B4GALT6 Gene

Sources for B4GALT6 Gene

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