Property Summary

NCBI Gene PubMed Count 20
PubMed Score 31.09
PubTator Score 25.39

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
psoriasis -2.300 2.8e-05
osteosarcoma -1.689 7.7e-06

Gene RIF (7)

PMID Text
25893793 Since the phenotype of the Nias patients differs from the Larsen-like syndrome described for patients with mutation p.(Arg277Gln), we suggest mutation B3GAT3:p.(Pro140Leu) to cause a different type of GAG linkeropathy showing no involvement of the heart.
21763480 Reduced GlcAT-I activity impairs skeletal as well as heart development and results in variable combinations of heart malformations.
18400750 2-o-phosphorylation of xylose and 6-o-sulfation of galactose in the protein linkage region of glycosaminoglycans influence the glucuronyltransferase-I activity involved in the linkage region synthesis
17567734 A comparison of substrate specificity of beta1,3-glucuronosyltransferases revealed that GlcAT-I was selective toward Galbeta1,3Gal, whereas GlcAT-P presented a broader profile.
15601778 GlcAT-I has a role in controlling and reversing articular cartilage defects
15522873 we evaluated the consequences of C-4/C-6 sulfation of Galbeta1-3Gal (Gal2-Gal1) on the activity and specificity of beta1,3-glucuronosyltransferase I
12794088 functional glycosyltransferase signature sequence of the human beta 1,3-glucuronosyltransferase is a XDD motif

AA Sequence

MKLKLKNVFLAYFLVSIAGLLYALVQLGQPCDCLPPLRAAAEQLRQKDLRISQLQAELRRPPPAPAQPPE      1 - 70
PEALPTIYVVTPTYARLVQKAELVRLSQTLSLVPRLHWLLVEDAEGPTPLVSGLLAASGLLFTHLVVLTP     71 - 140
KAQRLREGEPGWVHPRGVEQRNKALDWLRGRGGAVGGEKDPPPPGTQGVVYFADDDNTYSRELFEEMRWT    141 - 210
RGVSVWPVGLVGGLRFEGPQVQDGRVVGFHTAWEPSRPFPVDMAGFAVALPLLLDKPNAQFDSTAPRGHL    211 - 280
ESSLLSHLVDPKDLEPRAANCTRVLVWHTRTEKPKMKQEEQLQRQGRGSDPAIEV                   281 - 335
//

Text Mined References (27)

PMID Year Title
26086840 2015 A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25893793 2015 Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
24668659 2014 Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype.
24425863 2014 Identification of phosphatase that dephosphorylates xylose in the glycosaminoglycan-protein linkage region of proteoglycans.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
21763480 2011 Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.
21269460 2011 Initial characterization of the human central proteome.
19946888 2010 Defining the membrane proteome of NK cells.
19199708 2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT).
18400750 2008 2-o-phosphorylation of xylose and 6-o-sulfation of galactose in the protein linkage region of glycosaminoglycans influence the glucuronyltransferase-I activity involved in the linkage region synthesis.
17567734 2007 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.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
15601778 2004 Stimulation of proteoglycan synthesis by glucuronosyltransferase-I gene delivery: a strategy to promote cartilage repair.
15522873 2005 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.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12794088 2003 The functional glycosyltransferase signature sequence of the human beta 1,3-glucuronosyltransferase is a XDD motif.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11950836 2002 Crystal structure of beta 1,3-glucuronyltransferase I in complex with active donor substrate UDP-GlcUA.
11535117 2001 Human glycosaminoglycan glucuronyltransferase I gene and a related processed pseudogene: genomic structure, chromosomal mapping and characterization.
10946001 2000 Heparan/chondroitin sulfate biosynthesis. Structure and mechanism of human glucuronyltransferase I.
10842173 2000 Structure/function of the human Ga1beta1,3-glucuronosyltransferase. Dimerization and functional activity are mediated by two crucial cysteine residues.
10526176 1999 Characterization of recombinant human glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans.
9927678 1999 Three proteins involved in Caenorhabditis elegans vulval invagination are similar to components of a glycosylation pathway.
9506957 1998 Molecular cloning and expression of glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans.