SGPP1: Sphingosine-1-Phosphate Phosphatase 1
Key regulator of sphingolipid metabolism and signaling
Gene Information Card
| Symbol | SGPP1 |
|---|---|
| Full Name | sphingosine-1-phosphate phosphatase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q23.3 |
| NCBI Gene ID | 81537 ncbi.nlm.nih.gov/gene/81537 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9BX95 |
| OMIM ID | 612123 |
| HGNC ID | 24819 |
| Aliases | SPP1, SPP-1, hSPP1 |
Description
SGPP1 encodes sphingosine-1-phosphate phosphatase 1, an enzyme that catalyzes the dephosphorylation of sphingosine-1-phosphate (S1P) to sphingosine. This reaction is critical for regulating intracellular and extracellular S1P levels, which influence cell proliferation, survival, migration, and immune cell trafficking. SGPP1 is involved in sphingolipid metabolism and signaling pathways, with implications in cancer, inflammation, and vascular biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered S1P metabolism via SGPP1 dysregulation affects cell survival and proliferation | PMID: 23541953; COSMIC |
| Inflammatory bowel disease | SGPP1 expression changes modulate S1P-driven immune cell recruitment | PMID: 28467925 |
| Cardiovascular disease | SGPP1 regulates S1P levels impacting endothelial function and vascular tone | PMID: 25635056 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Lung | 8.7 | Medium |
| Brain | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | Embryonic kidney cells |
| HepG2 | 13.8 | Hepatocellular carcinoma cells |
| A549 | 9.4 | Lung adenocarcinoma cells |
| MCF7 | 7.2 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | Rare | Potential loss of phosphatase activity |
| c.457G>A (p.Gly153Arg) | Missense | Rare | Unknown functional impact |
| c.724_725insA | Frameshift | Very rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and some missense mutations (e.g., p.Thr34Met) are predicted to reduce or abolish S1P phosphatase activity, leading to elevated S1P levels.
Gain of Function (GOF)
No gain-of-function mutations have been reported in SGPP1.
Dominant Negative (DN)
No dominant-negative mutations have been described for SGPP1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Sphingolipid metabolism (Reactome: R-HSA-428157)
• Sphingosine-1-phosphate signaling (Reactome: R-HSA-428157)
• Ceramide de novo biosynthesis (Reactome: R-HSA-1660661)
Protein Summary
SGPP1 is a 384-amino acid integral membrane protein localized to the endoplasmic reticulum. It belongs to the type 2 phosphatidic acid phosphatase family and contains a conserved phosphatase domain. The enzyme specifically dephosphorylates sphingosine-1-phosphate to sphingosine, thereby controlling the balance between pro-survival S1P and pro-apoptotic ceramide. SGPP1 is widely expressed, with highest levels in liver and kidney, and plays a role in cell signaling, immune regulation, and cancer biology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SGPP1 Knockout HEK293 Cell Line | EDJ-KQ1751 | Human | 81537 | Details Get a Quote |
| SGPP1 Knockout A-549 Cell Line | EDJ-KQ21623 | Human | 81537 | Details Get a Quote |
| SGPP1 Knockout HCT 116 Cell Line | EDJ-KQ21624 | Human | 81537 | Details Get a Quote |
| SGPP1 Knockout HeLa Cell Line | EDJ-KQ21625 | Human | 81537 | Details Get a Quote |
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