Candidate Genes Diabetic Retinopathy

Aldo-keto reductase family 1, member B1 (aldose reductase)

Official Symbol
AKR1B1
Alternative Names
aldose reductase
OTTHUMP00000207727
OTTHUMP00000207728
aldehyde reductase 1
low Km aldose reductase
Lii5-2 CTCL tumor antigen
aldo-keto reductase family 1 member B1
Description
This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and) proteins. This member catalyzes (polyol pathway) the reduction of a number of aldehydes, including the aldehyde form of glucose, and is thereby implicated in the development of diabetic complications by catalyzing the reduction of glucose to sorbitol. Multiple pseudogenes have been identified for this gene. This enzyme is cytosolic, exists as a monomer and requires NADPH as a co-factor.
Location
7q35
Map
Chr 17
Start: 134,127,107 bp from pter
End: 134,144,036 bp from pter
Size: 16,930 bases
Orientation: minus strand
Exons and Introns
10 exons and 18 distinct gt-ag introns
Nucleotide Sequence
Aminoacid Sequence
Variation
rs5053 G/C
Motif
Pfam: Aldo_ket_red
PROSITE: ALDOKETO_REDUCTASE_2 ALDOKETO_REDUCTASE_1 ALDOKETO_REDUCTASE_3
Ec No.
1.1.1.21
Catalytic Activity
Alditol + NAD(P)+ = aldose + NAD(P)H
Enzyme Regulation
Cys-299 may regulate the kinetic and inhibition properties of the enzyme, but does not participate in catalysis
Pathway
Pentose and glucuronate interconversions
Fructose and mannose metabolism
Galactose metabolism
Glycerolipid metabolism
Pyruvate metabolism
Interactors
Protein interactors
Sma and Mad related protein 1

Non protein interactors
ADPH
Post Translational Modification
Acetylation
Phosphorylation
Molecular Weight
35853 da
Molecular Class
Enzyme: Oxidoreductase
Molecular Function
Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols with a broad range of catalytic efficiencies.
3D Structure