LMPD Database

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LMP001250

UniProt Annotations

Entry Information
Gene Name3-ketodihydrosphingosine reductase
Protein EntryKDSR_HUMAN
UniProt IDQ06136
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q06136-1; Sequence=Displayed; Name=2; IsoId=Q06136-2; Sequence=VSP_056641; Note=No experimental confirmation available.;
Catalytic ActivitySphinganine + NADP(+) = 3-dehydrosphinganine + NADPH.
DiseaseNote=A chromosomal aberration involving KDSR is a cause of follicular lymphoma; also known as type II chronic lymphatic leukemia. Translocation t(2;18)(p11;q21) with a Ig J kappa chain region.
FunctionCatalyzes the reduction of 3-ketodihydrosphingosine (KDS) to dihydrosphingosine (DHS).
PathwayLipid metabolism; sphingolipid metabolism.
SimilarityBelongs to the short-chain dehydrogenases/reductases (SDR) family.
Subcellular LocationEndoplasmic reticulum membrane ; Multi-pass membrane protein .
Tissue SpecificityExpressed in all tissues examined. Highest expression in placenta. High expression in lung, kidney, stomach and small intestine, low expression in heart, spleen and skeletal muscle. Weakly expressed in normal hematopoietic tissues. Higher expression in some T-cell malignancies and PHA-stimulated lymphocytes.