SGPL1
Function
Cleaves phosphorylated sphingoid bases (PSBs), such as sphingosine-1-phosphate, into fatty aldehydes and phosphoethanolamine. Elevates stress-induced ceramide production and apoptosis (PubMed:11018465, PubMed:14570870, PubMed:24809814, PubMed:28165339). Required for global lipid homeostasis in liver and cholesterol homeostasis in fibroblasts. Involved in the regulation of pro-inflammatory response and neutrophil trafficking. Modulates neuronal autophagy via phosphoethanolamine production which regulates accumulation of aggregate-prone proteins such as APP (By similarity). Seems to play a role in establishing neuronal contact sites and axonal maintenance (By similarity).
Involvement in disease
RENI syndrome
RENI
An autosomal recessive, steroid-resistant nephrotic syndrome that manifests in infancy or early childhood, and progresses to end-stage renal failure within a few years. Additional clinical features include ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects. In rare cases, patients present with isolated primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Lipid metabolism; sphingolipid metabolism.
Sequence Similarities
Belongs to the group II decarboxylase family. Sphingosine-1-phosphate lyase subfamily.
Tissue Specificity
Ubiquitously expressed (PubMed:11018465, PubMed:28165343). Expressed in fetal and adult adrenal gland (at protein level) (PubMed:28165343).
Cellular localization
- Endoplasmic reticulum membrane
- Single-pass type III membrane protein
- Cytoplasmic side
Alternative names
KIAA1252, SGPL1, Sphingosine-1-phosphate lyase 1, S1PL, SP-lyase 1, SPL 1, hSPL, Sphingosine-1-phosphate aldolase