Property Summary

NCBI Gene PubMed Count 36
Grant Count 20
R01 Count 20
Funding $2,605,216.5
PubMed Score 251.82
PubTator Score 110.68

Knowledge Summary

Patent

No data available

Expression

Gene RIF (11)

PMID Text
26162744 Data show the protein structure of GALE and its substrate binding and specificity. It is mutated in type III galactosemia. [review]
25201731 These data indicated a critical role of GALE in maintaining cartilage homeostasis, and suggested that GALE inhibition might contribute to OA progress.
25150110 human UDP-galactose 4'-epimerase stability is increased by variants associated with type III galactosemia but decreased by substrate and cofactor binding
23644136 GALE variants can be arranged into three groups depending on the severity of enzyme impairment.
22613355 P.K161N-hGALE causes its effects by abolishing an important interaction between the protein and the cofactor.
19250319 Our observations show that altered protein stability is due to misfolding and that loss or reduction of enzyme activity is responsible for the molecular defects underlying GALE-deficiency galactosemia.
18188677 Subtle biochemical and metabolic abnormalities detected in patients expressing these GALE alleles likely reflect, at least in part, the reduced enzymatic activity of the encoded GALE proteins.
16302980 Data suggest that reduced catalytic efficiency and increased proteolytic susceptibility of UDP-galactose 4-epimerase are causative factors in type III galactosemia.
16302980 Disease-causing mutations result in a variety of changes to the steady-state parameters. Mostly these are changes in turnover number, kcat. The ability to dimerize is not affected, but some mutants have increased sensitivity to protease digestion.
15701638 Resulst describe the relationship among UDP-galactose 4'-epimerase activity, substrate specificity, metabolic balance, and galactose sensitivity in mammalian cells.
More...

AA Sequence

MAEKVLVTGGAGYIGSHTVLELLEAGYLPVVIDNFHNAFRGGGSLPESLRRVQELTGRSVEFEEMDILDQ      1 - 70
GALQRLFKKYSFMAVIHFAGLKAVGESVQKPLDYYRVNLTGTIQLLEIMKAHGVKNLVFSSSATVYGNPQ     71 - 140
YLPLDEAHPTGGCTNPYGKSKFFIEEMIRDLCQADKTWNAVLLRYFNPTGAHASGCIGEDPQGIPNNLMP    141 - 210
YVSQVAIGRREALNVFGNDYDTEDGTGVRDYIHVVDLAKGHIAALRKLKEQCGCRIYNLGTGTGYSVLQM    211 - 280
VQAMEKASGKKIPYKVVARREGDVAACYANPSLAQEELGWTAALGLDRMCEDLWRWQKQNPSGFGTQA      281 - 348
//

Text Mined References (42)

PMID Year Title
26162744 2015 UDP-hexose 4-epimerases: a view on structure, mechanism and substrate specificity.
25416956 2014 A proteome-scale map of the human interactome network.
25201731 2014 The critical role of UDP-galactose-4-epimerase in osteoarthritis: modulating proteoglycans synthesis of the articular chondrocytes.
25150110 2014 The metastability of human UDP-galactose 4'-epimerase (GALE) is increased by variants associated with type III galactosemia but decreased by substrate and cofactor binding.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23732289 2013 Comparison of dynamics of wildtype and V94M human UDP-galactose 4-epimerase-A computational perspective on severe epimerase-deficiency galactosemia.
23644136 2013 In silico prediction of the effects of mutations in the human UDP-galactose 4'-epimerase gene: towards a predictive framework for type III galactosemia.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22654673 2012 UDP-galactose 4'-epimerase activities toward UDP-Gal and UDP-GalNAc play different roles in the development of Drosophila melanogaster.
22613355 2012 Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemia.
More...