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Aliases for B3GALT6 Gene

Aliases for B3GALT6 Gene

  • Beta-1,3-Galactosyltransferase 6 2 3 5
  • UDP-Gal:BetaGal Beta 1,3-Galactosyltransferase Polypeptide 6 2 3 4
  • UDP-Gal:BetaGlcNAc Beta 1,3-Galactosyltransferase, Polypeptide 6 2 3
  • Galactosylxylosylprotein 3-Beta-Galactosyltransferase 3 4
  • UDP-Gal:BetaGal Beta 1,3-Galactosyltransferase 6 2 3
  • Galactosyltransferase II 3 4
  • Beta-1,3-GalTase 6 3 4
  • Beta3Gal-T6 3 4
  • GAG GalTII 3 4
  • Beta3GalT6 3 4
  • Beta-1,3-Galactosyltransferase-6 2
  • EC 2.4.1.134 4
  • SEMDJL1 3
  • EDSP2 3

External Ids for B3GALT6 Gene

Previous GeneCards Identifiers for B3GALT6 Gene

  • GC01P000694
  • GC01P000919
  • GC01P001044
  • GC01P001073
  • GC01P001207
  • GC01P001157
  • GC01P000424

Summaries for B3GALT6 Gene

Entrez Gene Summary for B3GALT6 Gene

  • The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal beta-linked galactose moiety. The encoded enzyme has a particular affinity for galactose-beta-1,4-xylose found in the linker region of glycosamines. This enzyme is required for glycosaminoglycan synthesis. [provided by RefSeq, Jun 2013]

GeneCards Summary for B3GALT6 Gene

B3GALT6 (Beta-1,3-Galactosyltransferase 6) is a Protein Coding gene. Diseases associated with B3GALT6 include ehlers-danlos syndrome, progeroid type, 2 and spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures. Among its related pathways are Defective B3GAT3 causes JDSSDHD and heparan sulfate biosynthesis. GO annotations related to this gene include galactosyltransferase activity and UDP-galactosyltransferase activity. An important paralog of this gene is B3GALNT2.

UniProtKB/Swiss-Prot for B3GALT6 Gene

  • Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-linked galactose residue. Has a preference for galactose-beta-1,4-xylose that is found in the linker region of glycosaminoglycans, such as heparan sulfate and chondroitin sulfate. Has no activity towards substrates with terminal glucosamine or galactosamine residues.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B3GALT6 Gene

Genomics for B3GALT6 Gene

Regulatory Elements for B3GALT6 Gene

Enhancers for B3GALT6 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around B3GALT6 on UCSC Golden Path with GeneCards custom track

Promoters for B3GALT6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around B3GALT6 on UCSC Golden Path with GeneCards custom track

Genomic Location for B3GALT6 Gene

Chromosome:
1
Start:
1,232,249 bp from pter
End:
1,235,041 bp from pter
Size:
2,793 bases
Orientation:
Plus strand

Genomic View for B3GALT6 Gene

Genes around B3GALT6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B3GALT6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B3GALT6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B3GALT6 Gene

Proteins for B3GALT6 Gene

  • Protein details for B3GALT6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96L58-B3GT6_HUMAN
    Recommended name:
    Beta-1,3-galactosyltransferase 6
    Protein Accession:
    Q96L58
    Secondary Accessions:
    • Q5T7M5

    Protein attributes for B3GALT6 Gene

    Size:
    329 amino acids
    Molecular mass:
    37138 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

neXtProt entry for B3GALT6 Gene

Proteomics data for B3GALT6 Gene at MOPED

Post-translational modifications for B3GALT6 Gene

  • Glycosylation at Asn 131
  • Modification sites at PhosphoSitePlus

Other Protein References for B3GALT6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for B3GALT6 Gene

Domains & Families for B3GALT6 Gene

Gene Families for B3GALT6 Gene

Protein Domains for B3GALT6 Gene

Suggested Antigen Peptide Sequences for B3GALT6 Gene

Graphical View of Domain Structure for InterPro Entry

Q96L58

UniProtKB/Swiss-Prot:

B3GT6_HUMAN :
  • Belongs to the glycosyltransferase 31 family.
Family:
  • Belongs to the glycosyltransferase 31 family.
genes like me logo Genes that share domains with B3GALT6: view

Function for B3GALT6 Gene

Molecular function for B3GALT6 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-galactose + 4-beta-D-galactosyl-O-beta-D-xylosyl-[protein] = UDP + 3-beta-D-galactosyl-4-beta-D-galactosyl-O-beta-D-xylosyl-[protein].
UniProtKB/Swiss-Prot Function:
Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-linked galactose residue. Has a preference for galactose-beta-1,4-xylose that is found in the linker region of glycosaminoglycans, such as heparan sulfate and chondroitin sulfate. Has no activity towards substrates with terminal glucosamine or galactosamine residues.

Enzyme Numbers (IUBMB) for B3GALT6 Gene

Gene Ontology (GO) - Molecular Function for B3GALT6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035250 UDP-galactosyltransferase activity IDA 11551958
genes like me logo Genes that share ontologies with B3GALT6: view
genes like me logo Genes that share phenotypes with B3GALT6: view

Human Phenotype Ontology for B3GALT6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for B3GALT6 Gene

Localization for B3GALT6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B3GALT6 Gene

Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for B3GALT6 Gene COMPARTMENTS Subcellular localization image for B3GALT6 gene
Compartment Confidence
golgi apparatus 5
mitochondrion 2
extracellular 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for B3GALT6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005797 Golgi medial cisterna IEA,IDA 11551958
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with B3GALT6: view

Pathways & Interactions for B3GALT6 Gene

genes like me logo Genes that share pathways with B3GALT6: view

UniProtKB/Swiss-Prot Q96L58-B3GT6_HUMAN

  • Pathway: Glycan metabolism; chondroitin sulfate biosynthesis.
  • Pathway: Glycan metabolism; heparan sulfate biosynthesis.

Interacting Proteins for B3GALT6 Gene

Gene Ontology (GO) - Biological Process for B3GALT6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030203 glycosaminoglycan metabolic process TAS --
GO:0030206 chondroitin sulfate biosynthetic process IEA --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with B3GALT6: view

No data available for SIGNOR curated interactions for B3GALT6 Gene

Drugs & Compounds for B3GALT6 Gene

(4) Drugs for B3GALT6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine diphosphategalactose Experimental Pharma 0
Uridine-5'-Diphosphate Experimental Pharma 0
Manganese Pharma 32
Chondroitin Nutra 43

(2) Additional Compounds for B3GALT6 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
heparan sulfate
  • alpha-Idosane
  • Heparan N-sulfate
  • Heparan N-sulphate
  • Heparan sulfate
  • Heparan sulphate
9050-30-0
Poly-N-acetyllactosamine
  • 2-(Acetylamino)-2-deoxy-4-O-beta-D-galactopyranosyl-D-Glucose
  • 2-(Acetylamino)-2-deoxy-4-O-beta-D-galactopyranosyl-D-glucose homopolymer
  • N-Acetyl-4-O-beta-D-galactopyranosyl-D-glucosamine
  • N-Acetyl-lactosamine
  • O-beta-D-Galactopyranosyl-(14)-2-deoxy-2-acetamido-D-glucose
82441-98-3
genes like me logo Genes that share compounds with B3GALT6: view

Transcripts for B3GALT6 Gene

mRNA/cDNA for B3GALT6 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(101) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for B3GALT6 Gene

UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for B3GALT6 Gene

No ASD Table

Relevant External Links for B3GALT6 Gene

GeneLoc Exon Structure for
B3GALT6
ECgene alternative splicing isoforms for
B3GALT6

Expression for B3GALT6 Gene

mRNA expression in normal human tissues for B3GALT6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for B3GALT6 Gene

This gene is overexpressed in Bone (30.4) and Lung (29.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for B3GALT6 Gene



SOURCE GeneReport for Unigene cluster for B3GALT6 Gene Hs.284284

mRNA Expression by UniProt/SwissProt for B3GALT6 Gene

Q96L58-B3GT6_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with B3GALT6: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for B3GALT6 Gene

Orthologs for B3GALT6 Gene

This gene was present in the common ancestor of animals.

Orthologs for B3GALT6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia B3GALT6 35
  • 85.63 (n)
  • 86.85 (a)
B3GALT6 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia B3GALT6 35
  • 88.24 (n)
  • 89.26 (a)
B3GALT6 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia B3galt6 35
  • 82.42 (n)
  • 85.76 (a)
B3galt6 16
B3galt6 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia B3GALT6 35
  • 99.19 (n)
  • 98.78 (a)
B3GALT6 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia B3galt6 35
  • 79.72 (n)
  • 86.73 (a)
oppossum
(Monodelphis domestica)
Mammalia B3GALT6 36
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves B3GALT6 35
  • 69.99 (n)
  • 70.42 (a)
B3GALT6 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia b3galt6 35
  • 67.74 (n)
  • 67.74 (a)
Str.18771 35
zebrafish
(Danio rerio)
Actinopterygii b3galt6 35
  • 62.92 (n)
  • 65.27 (a)
b3galt6 36
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8734 37
  • 42 (a)
beta3GalTII 35
  • 53.27 (n)
  • 44.2 (a)
beta3GalTII 36
  • 30 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009175 35
  • 56 (n)
  • 43.11 (a)
worm
(Caenorhabditis elegans)
Secernentea Y110A2AL.14 37
  • 42 (a)
sqv-2 35
  • 49.29 (n)
  • 47.49 (a)
sqv-2 36
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea B3GALT6 36
  • 41 (a)
OneToOne
Species with no ortholog for B3GALT6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 B3GALT6 Gene

ENSEMBL:
Gene Tree for B3GALT6 (if available)
TreeFam:
Gene Tree for B3GALT6 (if available)

Paralogs for B3GALT6 Gene

Paralogs for B3GALT6 Gene

genes like me logo Genes that share paralogs with B3GALT6: view

Variants for B3GALT6 Gene

Sequence variations from dbSNP and Humsavar for B3GALT6 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_059317 -
VAR_070132 Ehlers-Danlos syndrome, progeroid type, 2 (EDSP2)
VAR_070133 Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1)
VAR_070134 Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1)
VAR_070136 Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1)

Structural Variations from Database of Genomic Variants (DGV) for B3GALT6 Gene

Variant ID Type Subtype PubMed ID
nsv10161 CNV Gain+Loss 18304495
nsv517709 CNV Gain+Loss 19592680
dgv2n67 CNV Gain 20364138
nsv871547 CNV Loss 21882294
dgv10n71 CNV Loss 21882294
dgv11n71 CNV Loss 21882294
dgv12n71 CNV Loss 21882294
nsv470680 CNV Loss 18288195
dgv17n71 CNV Loss 21882294
nsv871553 CNV Loss 21882294
dgv19n71 CNV Loss 21882294
dgv20n71 CNV Loss 21882294
nsv870527 CNV Gain 21882294
nsv469848 CNV Gain 16826518
dgv21n71 CNV Loss 21882294
nsv871744 CNV Gain 21882294
nsv482937 CNV Loss 15286789
dgv22n71 CNV Loss 21882294
nsv871107 CNV Loss 21882294
dgv23n71 CNV Loss 21882294
nsv871680 CNV Loss 21882294
nsv871329 CNV Gain 21882294
dgv25n71 CNV Loss 21882294
dgv26n71 CNV Loss 21882294
dgv27n71 CNV Loss 21882294
nsv455661 CNV Loss 19166990
nsv871327 CNV Loss 21882294
nsv870639 CNV Loss 21882294
nsv871666 CNV Gain+Loss 21882294
nsv871965 CNV Loss 21882294
nsv821698 CNV Gain 20364138
esv33767 CNV Loss 17666407

Variation tolerance for B3GALT6 Gene

Gene Damage Index Score: 5.33; 70.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for B3GALT6 Gene

HapMap Linkage Disequilibrium report
B3GALT6
Human Gene Mutation Database (HGMD)
B3GALT6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B3GALT6 Gene

Disorders for B3GALT6 Gene

MalaCards: The human disease database

(6) MalaCards diseases for B3GALT6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ehlers-danlos syndrome, progeroid type, 2
  • ehlers-danlos syndrome, progeroid type 2
spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
  • semdjl
ehlers-danlos syndrome progeroid type
  • ehlers-danlos syndrome, progeroid type, 2
spondyloepimetaphyseal dysplasia joint laxity
  • semdjl
spondyloepimetaphyseal dysplasia
  • spondyloepimetaphyseal dysplasia matrilin-3 related
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

B3GT6_HUMAN
  • Ehlers-Danlos syndrome, progeroid type, 2 (EDSP2) [MIM:615349]: A variant form of Ehlers-Danlos syndrome characterized by an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin. {ECO:0000269 PubMed:23664117}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640]: A bone disease characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Additional skeletal features include elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed. {ECO:0000269 PubMed:23664117, ECO:0000269 PubMed:23664118}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for B3GALT6

Genetic Association Database (GAD)
B3GALT6
Human Genome Epidemiology (HuGE) Navigator
B3GALT6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
B3GALT6
genes like me logo Genes that share disorders with B3GALT6: view

No data available for Genatlas for B3GALT6 Gene

Publications for B3GALT6 Gene

  1. Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the beta 1,3-galactosyltransferase family (beta 3GalT6). (PMID: 11551958) Bai X. … Esko J.D. (J. Biol. Chem. 2001) 2 3 4 23 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder. (PMID: 23664118) Malfait F. … De Paepe A. (Am. J. Hum. Genet. 2013) 3
  4. Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. (PMID: 23664117) Nakajima M. … Ikegawa S. (Am. J. Hum. Genet. 2013) 3
  5. Defining the membrane proteome of NK cells. (PMID: 19946888) Ghosh D. … Wilkins J.A. (J Mass Spectrom 2010) 3

Products for B3GALT6 Gene

Sources for B3GALT6 Gene

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