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 glycocon... See more...

Aliases for B4GALT6 Gene

Aliases for B4GALT6 Gene

  • Beta-1,4-Galactosyltransferase 6 2 3 4 5
  • UDP-Gal:Glucosylceramide Beta-1,4-Galactosyltransferase 2 3 4
  • 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:Beta-GlcNAc Beta-1,4-Galactosyltransferase 6 3 4
  • Glucosylceramide Beta-1,4-Galactosyltransferase 3 4
  • Lactosylceramide Synthase 3 4
  • Beta-1,4-GalTase 6 3 4
  • LacCer Synthase 3 4
  • Beta4Gal-T6 3 4
  • B4Gal-T6 3 4
  • Beta4GalT-VI 3
  • EC 2.4.1.274 4
  • 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 (Beta-1,4-Galactosyltransferase 6) is a Protein Coding gene. Diseases associated with B4GALT6 include Ehlers-Danlos Syndrome Progeroid Type. Among its related pathways are Metabolism of proteins and Sweet Taste Signaling. Gene Ontology (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 Summary for B4GALT6 Gene

  • Catalyzes the synthesis of lactosylceramide (LacCer) via the transfer of galactose from UDP-galactose to glucosylceramide (GlcCer) (PubMed:3099851, PubMed:1551920, PubMed:24498430). LacCer is the starting point in the biosynthesis of all gangliosides (membrane-bound glycosphingolipids) which play pivotal roles in the CNS including neuronal maturation and axonal and myelin formation (By similarity).

Additional gene information for B4GALT6 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for B4GALT6 Gene

Genomics for B4GALT6 Gene

GeneHancer (GH) Regulatory Elements for B4GALT6 Gene

Promoters and enhancers for B4GALT6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around B4GALT6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for B4GALT6

Top Transcription factor binding sites by QIAGEN in the B4GALT6 gene promoter:
  • AhR
  • CUTL1
  • E47
  • HFH-1
  • POU2F1
  • POU2F1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • RORalpha1

Genomic Locations for B4GALT6 Gene

Genomic Locations for B4GALT6 Gene
chr18:31,622,246-31,725,286
(GRCh38/hg38)
Size:
103,041 bases
Orientation:
Minus strand
chr18:29,202,209-29,265,799
(GRCh37/hg19)
Size:
63,591 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

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

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

Protein Domains for B4GALT6 Gene

Blocks:
  • Metazoa galactosyltransferase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for B4GALT6 Gene

GenScript: Design optimal peptide antigens:
  • UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 6 (B4GT6_HUMAN)
  • UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase 6 (Q6NT00_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Catalyzes the synthesis of lactosylceramide (LacCer) via the transfer of galactose from UDP-galactose to glucosylceramide (GlcCer) (PubMed:3099851, PubMed:1551920, PubMed:24498430). LacCer is the starting point in the biosynthesis of all gangliosides (membrane-bound glycosphingolipids) which play pivotal roles in the CNS including neuronal maturation and axonal and myelin formation (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine + UDP-alpha-D-galactose = a beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + H(+) + UDP; Xref=Rhea:RHEA:31495, ChEBI:CHEBI:15378, ChEBI:CHEBI:17950, ChEBI:CHEBI:22801, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914; EC=2.4.1.274; Evidence={ECO:0000269 PubMed:1551920, ECO:0000269 PubMed:24498430, ECO:0000269 PubMed:3099851};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by EDTA.
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};
GENATLAS Biochemistry:
UDP galactose

Enzyme Numbers (IUBMB) for B4GALT6 Gene

Phenotypes From GWAS Catalog for B4GALT6 Gene

Gene Ontology (GO) - Molecular Function for B4GALT6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008378 galactosyltransferase activity IDA 10320813
GO:0008489 UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity ISS --
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 Models for B4GALT6 Gene

MGI Knock Outs for B4GALT6:

Animal Model Products

  • Taconic Biosciences Mouse Models for B4GALT6

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , 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. {ECO:0000250 UniProtKB:P15291}.

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
plasma membrane 2
extracellular 2
mitochondrion 2
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 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
  • Sperm Motility

UniProtKB/Swiss-Prot Q9UBX8-B4GT6_HUMAN

  • Pathway: Protein modification; protein glycosylation.
  • Pathway: Sphingolipid metabolism.

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:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
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
Magnesium Approved, Experimental, Investigational Pharma 0
Calcium Approved Nutra 7884
Manganese Approved Nutra 51
Uridine 5'-diphosphate Experimental Pharma 0
Uridine diphosphategalactose Experimental Pharma 0

(47) 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
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

mRNA/cDNA for B4GALT6 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for B4GALT6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for B4GALT6 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 99.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia B4GALT6 31 30
  • 93.46 (n)
OneToOne
cow
(Bos Taurus)
Mammalia B4GALT6 31 30
  • 92.5 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia B4GALT6 31
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia B4galt6 17 31 30
  • 88.31 (n)
rat
(Rattus norvegicus)
Mammalia B4galt6 30
  • 86.91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia B4GALT6 31
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves B4GALT6 31 30
  • 82.97 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia B4GALT6 31
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia b4galt5 30
  • 75.77 (n)
Str.17604 30
zebrafish
(Danio rerio)
Actinopterygii b4galt6 31 30
  • 73.39 (n)
OneToOne
zgc55730 30
fruit fly
(Drosophila melanogaster)
Insecta CG14517 32
  • 38 (a)
BcDNA:GH13356 32
  • 38 (a)
beta4GalT7 31
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea W02B12.11 32
  • 41 (a)
sqv-3 31
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for B4GALT6: view image

Paralogs for B4GALT6 Gene

Paralogs for B4GALT6 Gene

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

  • B4GT6_HUMAN
  • G3XA83_HUMAN
  • J3QQY9_HUMAN
  • Q6NT00_HUMAN
  • Q6NT09_HUMAN
genes like me logo Genes that share paralogs with B4GALT6: view

Variants for B4GALT6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for B4GALT6 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs34683195 - p.Ile379Val

Additional dbSNP identifiers (rs#s) for B4GALT6 Gene

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)

Additional Variant Information 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

MalaCards: The human disease database

(1) MalaCards diseases for B4GALT6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
ehlers-danlos syndrome progeroid type
  • proteodermatan sulfate, defective biosynthesis of
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for B4GALT6

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

No data available for 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 23 54
  2. The expanding beta 4-galactosyltransferase gene family: messages from the databanks. (PMID: 9597550) Lo NW … Shaper NL (Glycobiology 1998) 2 3 4 54
  3. Establishment of HeLa cell mutants deficient in sphingolipid-related genes using TALENs. (PMID: 24498430) Yamaji T … Hanada K (PloS one 2014) 3 4 54
  4. 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 41 54
  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 54

Products for B4GALT6 Gene

Sources for B4GALT6 Gene