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Aliases for B3GAT3 Gene

Aliases for B3GAT3 Gene

  • Beta-1,3-Glucuronyltransferase 3 2 3 4 5
  • Beta-1,3-Glucuronyltransferase 3 (Glucuronosyltransferase I) 2 3
  • UDP-GlcUA:Gal Beta-1,3-Gal-R Glucuronyltransferase 3 4
  • Glucuronosyltransferase I 2 4
  • EC 2.4.1.135 4 63
  • GlcUAT-I 3 4
  • Galactosylgalactosylxylosylprotein 3-Beta-Glucuronosyltransferase 3 2
  • Sqv-8-Like Protein 3
  • GlcAT-I 4
  • GLCATI 3

External Ids for B3GAT3 Gene

Previous GeneCards Identifiers for B3GAT3 Gene

  • GC11M064895
  • GC11M063958
  • GC11M062158
  • GC11M062139
  • GC11M062429
  • GC11M058711

Summaries for B3GAT3 Gene

Entrez Gene Summary for B3GAT3 Gene

  • The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3. [provided by RefSeq, Dec 2013]

GeneCards Summary for B3GAT3 Gene

B3GAT3 (Beta-1,3-Glucuronyltransferase 3) is a Protein Coding gene. Diseases associated with B3GAT3 include multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects and larsen-like syndrome, b3gat3 type. Among its related pathways are Metabolism and heparan sulfate biosynthesis. GO annotations related to this gene include glucuronosyltransferase activity and galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity. An important paralog of this gene is B3GAT1.

UniProtKB/Swiss-Prot for B3GAT3 Gene

  • Glycosaminoglycans biosynthesis (PubMed:25893793). Involved in forming the linkage tetrasaccharide present in heparan sulfate and chondroitin sulfate. Transfers a glucuronic acid moiety from the uridine diphosphate-glucuronic acid (UDP-GlcUA) to the common linkage region trisaccharide Gal-beta-1,3-Gal-beta-1,4-Xyl covalently bound to a Ser residue at the glycosaminylglycan attachment site of proteoglycans. Can also play a role in the biosynthesis of l2/HNK-1 carbohydrate epitope on glycoproteins. Shows strict specificity for Gal-beta-1,3-Gal-beta-1,4-Xyl, exhibiting negligible incorporation into other galactoside substrates including Galbeta1-3Gal beta1-O-benzyl, Galbeta1-4GlcNAc and Galbeta1-4Glc. Stimulates 2-phosphoxylose phosphatase activity of PXYLP1 in presence of uridine diphosphate-glucuronic acid (UDP-GlcUA) during completion of linkage region formation (PubMed:24425863).

Gene Wiki entry for B3GAT3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B3GAT3 Gene

Genomics for B3GAT3 Gene

Regulatory Elements for B3GAT3 Gene

Promoters for B3GAT3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around B3GAT3 on UCSC Golden Path with GeneCards custom track

Genomic Location for B3GAT3 Gene

Chromosome:
11
Start:
62,615,296 bp from pter
End:
62,622,175 bp from pter
Size:
6,880 bases
Orientation:
Minus strand

Genomic View for B3GAT3 Gene

Genes around B3GAT3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B3GAT3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B3GAT3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B3GAT3 Gene

Proteins for B3GAT3 Gene

  • Protein details for B3GAT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94766-B3GA3_HUMAN
    Recommended name:
    Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3
    Protein Accession:
    O94766
    Secondary Accessions:
    • B7ZAB3
    • Q96I06
    • Q9UEP0

    Protein attributes for B3GAT3 Gene

    Size:
    335 amino acids
    Molecular mass:
    37122 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer; disulfide-linked. Interacts with PXYLP1; the interaction increases the 2-phosphoxylose phosphatase activity of PXYLP1 during completion of linkage region formation in a B3GAT3-mediated manner.

    Three dimensional structures from OCA and Proteopedia for B3GAT3 Gene

    Alternative splice isoforms for B3GAT3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for B3GAT3 Gene

Proteomics data for B3GAT3 Gene at MOPED

Selected DME Specific Peptides for B3GAT3 Gene

Post-translational modifications for B3GAT3 Gene

Other Protein References for B3GAT3 Gene

Antibody Products

Domains & Families for B3GAT3 Gene

Gene Families for B3GAT3 Gene

Protein Domains for B3GAT3 Gene

Graphical View of Domain Structure for InterPro Entry

O94766

UniProtKB/Swiss-Prot:

B3GA3_HUMAN :
  • Belongs to the glycosyltransferase 43 family.
Family:
  • Belongs to the glycosyltransferase 43 family.
genes like me logo Genes that share domains with B3GAT3: view

Function for B3GAT3 Gene

Molecular function for B3GAT3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UDP-glucuronate + 3-beta-D-galactosyl-4-beta-D-galactosyl-O-beta-D-xylosylprotein = UDP + 3-beta-D-glucuronosyl-3-beta-D-galactosyl-4-beta-D-galactosyl-O-beta-D-xylosylprotein.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by EDTA.
UniProtKB/Swiss-Prot Function:
Glycosaminoglycans biosynthesis (PubMed:25893793). Involved in forming the linkage tetrasaccharide present in heparan sulfate and chondroitin sulfate. Transfers a glucuronic acid moiety from the uridine diphosphate-glucuronic acid (UDP-GlcUA) to the common linkage region trisaccharide Gal-beta-1,3-Gal-beta-1,4-Xyl covalently bound to a Ser residue at the glycosaminylglycan attachment site of proteoglycans. Can also play a role in the biosynthesis of l2/HNK-1 carbohydrate epitope on glycoproteins. Shows strict specificity for Gal-beta-1,3-Gal-beta-1,4-Xyl, exhibiting negligible incorporation into other galactoside substrates including Galbeta1-3Gal beta1-O-benzyl, Galbeta1-4GlcNAc and Galbeta1-4Glc. Stimulates 2-phosphoxylose phosphatase activity of PXYLP1 in presence of uridine diphosphate-glucuronic acid (UDP-GlcUA) during completion of linkage region formation (PubMed:24425863).

Enzyme Numbers (IUBMB) for B3GAT3 Gene

Gene Ontology (GO) - Molecular Function for B3GAT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with B3GAT3: view
genes like me logo Genes that share phenotypes with B3GAT3: view

Human Phenotype Ontology for B3GAT3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for B3GAT3 Gene

MGI Knock Outs for B3GAT3:

Animal Model Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for B3GAT3 Gene

Localization for B3GAT3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B3GAT3 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for B3GAT3 Gene COMPARTMENTS Subcellular localization image for B3GAT3 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
endoplasmic reticulum 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for B3GAT3 Gene

Pathways & Interactions for B3GAT3 Gene

genes like me logo Genes that share pathways with B3GAT3: view

UniProtKB/Swiss-Prot O94766-B3GA3_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for B3GAT3 Gene

Gene Ontology (GO) - Biological Process for B3GAT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006024 glycosaminoglycan biosynthetic process NAS 10842173
GO:0006486 protein glycosylation IEA --
GO:0008152 metabolic process IEA --
GO:0030204 chondroitin sulfate metabolic process IBA,TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with B3GAT3: view

No data available for SIGNOR curated interactions for B3GAT3 Gene

Drugs & Compounds for B3GAT3 Gene

(6) Drugs for B3GAT3 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine-5'-Diphosphate Experimental Pharma Target 0
Udp-Glucuronic Acid Experimental Pharma Full agonist, Agonist, Target 0
Manganese Pharma 32
Chondroitin Nutra 40

(8) Additional Compounds for B3GAT3 Gene - From: Novoseek and 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
Uridine diphosphate glucuronic acid
  • a-D-Glucopyranuronic acid 1->5'-ester with uridine 5'-(trihydrogen pyrophosphate)
  • a-D-Glucopyranuronic acid ester with uridine 5'-pyrophosphate
  • alpha-D-Glucopyranuronic acid 1-P'-ester with uridine 5'-(trihydrogen diphosphate)
  • alpha-delta-Glucopyranuronic acid 1->5'-ester with uridine 5'-(trihydrogen pyrophosphate)
  • alpha-delta-Glucopyranuronic acid 1-P'-ester with uridine 5'-(trihydrogen diphosphate)
2616-64-0
genes like me logo Genes that share compounds with B3GAT3: view

Transcripts for B3GAT3 Gene

Unigene Clusters for B3GAT3 Gene

Beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for B3GAT3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7
SP1:
SP2:
SP3: -
SP4:
SP5: -
SP6: - -
SP7: - - -

Relevant External Links for B3GAT3 Gene

GeneLoc Exon Structure for
B3GAT3
ECgene alternative splicing isoforms for
B3GAT3

Expression for B3GAT3 Gene

mRNA expression in normal human tissues for B3GAT3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for B3GAT3 Gene

This gene is overexpressed in Nasal epithelium (57.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for B3GAT3 Gene



SOURCE GeneReport for Unigene cluster for B3GAT3 Gene Hs.502759

mRNA Expression by UniProt/SwissProt for B3GAT3 Gene

O94766-B3GA3_HUMAN
Tissue specificity: Ubiquitous (but weakly expressed in all tissues examined).
genes like me logo Genes that share expression patterns with B3GAT3: view

Protein tissue co-expression partners for B3GAT3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for B3GAT3 Gene

Orthologs for B3GAT3 Gene

This gene was present in the common ancestor of animals.

Orthologs for B3GAT3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia B3GAT3P1 36
  • 100 (a)
OneToOne
B3GAT3 35
  • 99.3 (n)
  • 99.7 (a)
cow
(Bos Taurus)
Mammalia B3GAT3 35
  • 91.54 (n)
  • 95.52 (a)
B3GAT3 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia B3GAT3 36
  • 96 (a)
OneToOne
B3GAT3 35
  • 91.84 (n)
  • 96.12 (a)
mouse
(Mus musculus)
Mammalia B3gat3 16
B3gat3 36
  • 96 (a)
OneToOne
B3gat3 35
  • 88.16 (n)
  • 95.82 (a)
oppossum
(Monodelphis domestica)
Mammalia B3GAT3 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia B3GAT3 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia B3gat3 35
  • 88.46 (n)
  • 95.22 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 44 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia B3GAT3 36
  • 66 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia b3gat3 35
tropical clawed frog
(Silurana tropicalis)
Amphibia b3gat3 35
  • 59.3 (n)
  • 62.05 (a)
zebrafish
(Danio rerio)
Actinopterygii b3gat3 36
  • 54 (a)
OneToOne
b3gat3 35
  • 63.39 (n)
  • 60.43 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002801 35
  • 53.46 (n)
  • 49.37 (a)
fruit fly
(Drosophila melanogaster)
Insecta GlcAT-I 35
  • 55.56 (n)
  • 53.57 (a)
BcDNA:GH05057 37
  • 44 (a)
CG3881 37
  • 41 (a)
EG:EG0007.5 37
  • 43 (a)
GlcAT-I 36
  • 45 (a)
ManyToMany
GlcAT-P 36
  • 23 (a)
ManyToMany
GlcAT-S 36
  • 25 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea sqv-8 35
  • 51.77 (n)
  • 50.21 (a)
C54C8.5 37
  • 38 (a)
E03H4.12 37
  • 37 (a)
sqv-8 37
  • 46 (a)
glct-1 36
  • 37 (a)
ManyToMany
glct-2 36
  • 31 (a)
ManyToMany
glct-3 36
  • 34 (a)
ManyToMany
glct-4 36
  • 35 (a)
ManyToMany
glct-5 36
  • 34 (a)
ManyToMany
glct-6 36
  • 34 (a)
ManyToMany
sqv-8 36
  • 37 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7080 36
  • 40 (a)
ManyToMany
CSA.7081 36
  • 38 (a)
ManyToMany
CSA.7425 36
  • 44 (a)
ManyToMany
Species with no ortholog for B3GAT3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 B3GAT3 Gene

ENSEMBL:
Gene Tree for B3GAT3 (if available)
TreeFam:
Gene Tree for B3GAT3 (if available)

Paralogs for B3GAT3 Gene

Paralogs for B3GAT3 Gene

(4) SIMAP similar genes for B3GAT3 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for B3GAT3 Gene

genes like me logo Genes that share paralogs with B3GAT3: view

Variants for B3GAT3 Gene

Sequence variations from dbSNP and Humsavar for B3GAT3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_066624 Multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects (JDSSDHD)
VAR_075370 Multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects (JDSSDHD)
VAR_075371 -
rs1128967 -- 62,616,994(+) GCTGT(A/C/G/T)TGAGG nc-transcript-variant, reference, missense
rs4343028 -- 62,622,146(+) CACCC(C/T)CCCGC nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for B3GAT3 Gene

Variant ID Type Subtype PubMed ID
nsv832182 CNV Gain+Loss 17160897
nsv825939 CNV Gain 20364138
nsv897622 CNV Loss 21882294

Variation tolerance for B3GAT3 Gene

Residual Variation Intolerance Score: 29.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.76; 33.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for B3GAT3 Gene

HapMap Linkage Disequilibrium report
B3GAT3
Human Gene Mutation Database (HGMD)
B3GAT3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B3GAT3 Gene

Disorders for B3GAT3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for B3GAT3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
  • larsen-like syndrome
larsen-like syndrome, b3gat3 type
  • multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome
shaheen syndrome
  • shns
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

B3GA3_HUMAN
  • Multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects (JDSSDHD) [MIM:245600]: An autosomal recessive disease characterized by dysmorphic facies, bilateral dislocations of the elbows, hips, and knees, clubfeet, and short stature, as well as cardiovascular defects. {ECO:0000269 PubMed:21763480, ECO:0000269 PubMed:24668659, ECO:0000269 PubMed:25893793, ECO:0000269 PubMed:26086840}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for B3GAT3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
B3GAT3
genes like me logo Genes that share disorders with B3GAT3: view

No data available for Genatlas for B3GAT3 Gene

Publications for B3GAT3 Gene

  1. Molecular cloning and expression of glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans. (PMID: 9506957) Kitagawa H. … Sugahara K. (J. Biol. Chem. 1998) 2 3 4 67
  2. Molecular basis for acceptor substrate specificity of the human beta1,3-glucuronosyltransferases GlcAT-I and GlcAT-P involved in glycosaminoglycan and HNK-1 carbohydrate epitope biosynthesis, respectively. (PMID: 17567734) Fondeur-Gelinotte M. … Fournel-Gigleux S. (Glycobiology 2007) 3 23
  3. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  4. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  5. Phosphorylation and sulfation of oligosaccharide substrates critically influence the activity of human beta1,4-galactosyltransferase 7 (GalT-I) and beta1,3-glucuronosyltransferase I (GlcAT-I) involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans. (PMID: 15522873) Gulberti S. … Fournel-Gigleux S. (J. Biol. Chem. 2005) 3 23

Products for B3GAT3 Gene

Sources for B3GAT3 Gene

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