ID:GALE_HUMAN DESCRIPTION: RecName: Full=UDP-glucose 4-epimerase; EC=5.1.3.2; AltName: Full=Galactowaldenase; AltName: Full=UDP-galactose 4-epimerase; FUNCTION: Catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose and the epimerization of UDP-N-acetylglucosamine to UDP-N- acetylgalactosamine. CATALYTIC ACTIVITY: UDP-alpha-D-glucose = UDP-alpha-D-galactose. COFACTOR: NAD. BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=69 uM for UDP-galactose (at 37 degrees Celsius and pH 8.8); Vmax=1.22 mmol/min/mg enzyme with UDP-galactose as substrate; PATHWAY: Carbohydrate metabolism; galactose metabolism. SUBUNIT: Homodimer. DISEASE: Defects in GALE are the cause of epimerase-deficiency galactosemia (EDG) [MIM:230350]; also known as galactosemia type 3. Clinical features include early-onset cataracts, liver damage, deafness and mental retardation. There are two clinically distinct forms of EDG. (1) A benign, or 'peripheral' form with no detectable GALE activity in red blood cells and characterized by mild symptoms. Some patients may suffer no symptoms beyond raised levels of galactose-1-phosphate in the blood. (2) A much rarer 'generalized' form with undetectable levels of GALE activity in all tissues and resulting in severe features such as restricted growth and mental development. SIMILARITY: Belongs to the sugar epimerase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GALE";
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 Q14376
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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.