Human Gene B3GAT3 (ENST00000265471.10) from GENCODE V43
Description: Homo sapiens beta-1,3-glucuronyltransferase 3 (B3GAT3), transcript variant 5, non-coding RNA. (from RefSeq NR_109991) RefSeq Summary (NM_012200): 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]. Gencode Transcript: ENST00000265471.10 Gencode Gene: ENSG00000149541.10 Transcript (Including UTRs) Position: hg38 chr11:62,615,296-62,621,986 Size: 6,691 Total Exon Count: 5 Strand: - Coding Region Position: hg38 chr11:62,615,701-62,621,947 Size: 6,247 Coding Exon Count: 5
ID:B3GA3_HUMAN DESCRIPTION: RecName: Full=Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3; EC=2.4.1.135; AltName: Full=Beta-1,3-glucuronyltransferase 3; AltName: Full=Glucuronosyltransferase I; Short=GlcAT-I; AltName: Full=UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase; Short=GlcUAT-I; FUNCTION: Glycosaminoglycans biosynthesis. 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. CATALYTIC ACTIVITY: 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. COFACTOR: Manganese. ENZYME REGULATION: Inhibited by EDTA. PATHWAY: Protein modification; protein glycosylation. SUBUNIT: Homodimer; disulfide-linked. SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein. Golgi apparatus, cis-Golgi network. TISSUE SPECIFICITY: Ubiquitous (but weakly expressed in all tissues examined). PTM: N-glycosylated. DISEASE: Defects in B3GAT3 are the cause of 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. SIMILARITY: Belongs to the glycosyltransferase 43 family. WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O94766
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005515 protein binding GO:0015018 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity GO:0015020 glucuronosyltransferase activity GO:0016740 transferase activity GO:0046872 metal ion binding GO:0072542 protein phosphatase activator activity
Biological Process: GO:0005975 carbohydrate metabolic process GO:0006024 glycosaminoglycan biosynthetic process GO:0006486 protein glycosylation GO:0015012 heparan sulfate proteoglycan biosynthetic process GO:0030203 glycosaminoglycan metabolic process GO:0030204 chondroitin sulfate metabolic process GO:0043085 positive regulation of catalytic activity GO:0043666 regulation of phosphoprotein phosphatase activity GO:0050650 chondroitin sulfate proteoglycan biosynthetic process GO:0050651 dermatan sulfate proteoglycan biosynthetic process GO:0090316 positive regulation of intracellular protein transport
US Server
