SGPP1

Description

The SGPP1 (sphingosine-1-phosphate phosphatase 1) is a protein-coding gene located on chromosome 14.

Sphingosine-1-phosphate phosphatase 1 is an enzyme that in humans is encoded by the SGPP1 gene.

SGPP1 is an enzyme that dephosphorylates sphingosine 1-phosphate (S1P), dihydro-S1P, and phyto-S1P, but does not act on ceramide 1-phosphate, lysophosphatidic acid or phosphatidic acid. This enzyme's activity is crucial for the efficient recycling of sphingosine back into the sphingolipid synthesis pathway. SGPP1 regulates intracellular S1P levels, a bioactive sphingolipid metabolite that plays a role in various biological processes, acting as both an extracellular receptor ligand and an intracellular second messenger. SGPP1 contributes to the efficient synthesis of ceramide from exogenous sphingoid bases by converting S1P to sphingosine, which is then readily metabolized to ceramide through ceramide synthase. Working together with sphingosine kinase 2 (SphK2), it recycles sphingosine into ceramide via a phosphorylation/dephosphorylation cycle. This enzyme regulates endoplasmic-to-Golgi trafficking of ceramides, impacting ceramide levels in the endoplasmic reticulum, particularly long-chain ceramide species, and influencing the anterograde membrane transport of both ceramide and proteins from the endoplasmic reticulum to the Golgi apparatus. The modulation of intracellular ceramide levels by SGPP1 subsequently regulates apoptosis. Through S1P levels, SGPP1 modulates resting tone, intracellular Ca(2+), and myogenic vasoconstriction in resistance arteries. It also participates in the unfolded protein response (UPR) and ER stress-induced autophagy through regulation of intracellular S1P levels. Furthermore, SGPP1 is involved in the regulation of epidermal homeostasis and keratinocyte differentiation.

SGPP1 is also known as SPP-1, SPPase1.

Associated Diseases

WES Whole Exome Sequencing