Property Summary

NCBI Gene PubMed Count 20
Grant Count 17
R01 Count 5
Funding $1,402,277.14
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 0.000
osteosarcoma -1.689 0.000

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).
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