SGPL1

Chr 10q22.1

sphingosine-1-phosphate lyase 1

Aliases:: SPL
MANE:: ENST00000373202.8

OMIM: 603729 ↗NCBI: 8879 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SGPL1 · O95470

v62025-08-01

Predicted Aligned Error matrix for SGPL1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.1/ 100

Very high

568 residues

Confidence breakdown

Very high(≥ 90)74%
Confident(70–90)19%
Low(50–70)4%
Very low(< 50)3%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital adrenal hypoplasia
BIALLELIC, autosomal or pseudoautosomal
COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Differences in sex development
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

nephrotic syndrome 14
0.77
pterin-4 alpha-carbinolamine dehydratase 1 deficiency
0.55
steroid-resistant nephrotic syndrome
0.51
lymphopenia
0.47
focal segmental glomerulosclerosis
0.47
Adrenal insufficiency
0.37
ichthyosis
0.37
hydrops fetalis
0.37
hereditary disease
0.34
nephrotic syndrome
0.33

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Sphingosine-1-phosphate lyase 1

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)