SGPL1 gene

sphingosine-1-phosphate lyase 1

The information on this page was automatically extracted from online scientific databases.

From UniProt:

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).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Nephrotic syndrome type 14

From UniProt:

Nephrotic syndrome 14 (NPHS14): A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. NPHS14 is an autosomal recessive syndromic, steroid-resistant form that progresses to end-stage renal failure. Some NPHS14 patients manifest ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects. [MIM:617575]

Cytogenetic Location: 10q22.1, which is the long (q) arm of chromosome 10 at position 22.1

Molecular Location: base pairs 70,815,920 to 70,881,184 on chromosome 10 (Homo sapiens Updated Annotation Release 109.20190607, GRCh38.p13) (NCBI)

Cytogenetic Location: 10q22.1, which is the long (q) arm of chromosome 10 at position 22.1
  • NPHS14
  • S1PL
  • SPL