3-ketodihydrosphingosine reductase; KDS reductase; 3-dehydrosphinganine reductase; follicular variant translocation protein 1; FVT-1 (KDSR FVT1)

Function: - catalyzes the reduction of 3-ketodihydrosphingosine (KDS) to dihydrosphingosine (DHS) - lipid metabolism; sphingolipid metabolism sphinganine + NADP⁺ 3-dehydrosphinganine + NADPH Structure: - belongs to the short-chain dehydrogenases/reductases (SDR) family Compartment: - endoplasmic reticulum membrane Expression: - expressed in all tissues examined - highest expression in placenta - high expression in lung, kidney, stomach & small intestine - low expression in heart, spleen & skeletal muscle - weakly expressed in normal hematopoietic tissues - higher expression in some T-cell malignancies & PHA-stimulated lymphocytes Pathology: - chromosomal translocation t(2;18)(p11;q21) involving KDSR with a Ig J kappa chain region is a cause of follicular lymphoma (chronic lymphatic leukemia type 2)

General

oxidoreductase proto oncogene protein transmembrane 2 protein

Properties

SIZE: entity length = 332 aa MW = 36 kD COMPARTMENT: endoplasmic reticulum MOTIF: cytoplasmic domain {1-270} MOTIF: signal sequence {1-25} cofactor-binding site [36-60] COFACTOR-BOUND: NADP binding site SITE: 173-173 FOR-BINDING-OF: Substrate tyrosine residue {Y186} lysine residue {K190} transmembrane domain {271-291} exoplasmic loop {292-293} transmembrane domain {294-314} cytoplasmic domain {315-332}

Database Correlations

OMIM 136440 UniProt Q06136 Pfam PF00106 Entrez Gene 2531 Kegg hsa:2531 ENZYME 1.1.1.102

References

UniProt :accession Q06136