B3GAT3 (beta-1,3-glucuronyltransferase 3)

Gene

• Entrez ID: 26229
• Gene name: Beta-1,3-glucuronyltransferase 3
• Gene symbol: B3GAT3
• Synonyms: GLCATI, JDSCD, glcUAT-I
• Chromosome: 11
• Chromosome location: 11q12.3
• Summary: 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs372487178	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs377340567	G>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs387906937	C>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs535206047	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs753781915	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs879255269	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1085307917	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA	21873635
GO:0000139	Component	Golgi membrane	TAS
GO:0005515	Function	Protein binding	IPI	24425863
GO:0005794	Component	Golgi apparatus	IDA	21763480
GO:0005801	Component	Cis-Golgi network	IDA	21763480, 25893793
GO:0005975	Process	Carbohydrate metabolic process	IBA	21873635
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IDA	24425863
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IMP	25893793
GO:0006024	Process	Glycosaminoglycan biosynthetic process	NAS	10842173
GO:0006486	Process	Protein glycosylation	IEA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IDA	21763480
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IMP	25893793
GO:0015018	Function	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	IBA	21873635
GO:0015018	Function	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	NAS	10842173
GO:0015020	Function	Glucuronosyltransferase activity	IDA	25893793
GO:0015020	Function	Glucuronosyltransferase activity	IMP	21763480
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	NAS	10842173
GO:0030203	Process	Glycosaminoglycan metabolic process	TAS
GO:0043085	Process	Positive regulation of catalytic activity	IDA	24425863
GO:0043666	Process	Regulation of phosphoprotein phosphatase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IBA	21873635
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IDA	21763480
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IMP	25893793
GO:0050651	Process	Dermatan sulfate proteoglycan biosynthetic process	IDA	21763480
GO:0050651	Process	Dermatan sulfate proteoglycan biosynthetic process	IMP	25893793
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0072542	Function	Protein phosphatase activator activity	IDA	24425863
GO:0090316	Process	Positive regulation of intracellular protein transport	IMP	24425863

Other IDs

• MIM: 606374
• HGNC: 923
• e!Ensembl: ENSG00000149541

Protein

• UniProt ID: O94766
• Protein name: Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 (EC 2.4.1.135) (Beta-1,3-glucuronyltransferase 3) (Glucuronosyltransferase I) (GlcAT-I) (UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase) (GlcUAT-I)
• Protein 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).
• PDB: 1FGG, 1KWS, 3CU0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03360	Glyco_transf_43	96 → 312	Glycosyltransferase family 43	Family

• Sequence:

  MKLKLKNVFLAYFLVSIAGLLYALVQLGQPCDCLPPLRAAAEQLRQKDLRISQLQAELRR
  PPPAPAQPPEPEALPTIYVVTPTYARLVQKAELVRLSQTLSLVPRLHWLLVEDAEGPTPL
  VSGLLAASGLLFTHLVVLTPKAQRLREGEPGWVHPRGVEQRNKALDWLRGRGGAVGGEKD
  PPPPGTQGVVYFADDDNTYSRELFEEMRWTRGVSVWPVGLVGGLRFEGPQVQDGRVVGFH
  TAWEPSRPFPVDMAGFAVALPLLLDKPNAQFDSTAPRGHLESSLLSHLVDPKDLEPRAAN
  CTRVLVWHTRTEKPKMKQEEQLQRQGRGSDPAIEV

• Sequence length: 335