SPHK1 (Sphingosine Kinase 1): A Key Enzyme in Sphingolipid Signaling and Cancer
Comprehensive gene card, expression, mutations, and disease associations for SPHK1, a lipid kinase involved in cell proliferation, survival, and inflammation.
Gene Information Card
| Symbol | SPHK1 |
|---|---|
| Full Name | sphingosine kinase 1 |
| Gene Type | protein coding |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 8877 ncbi.nlm.nih.gov/gene/8877 |
| Ensembl ID | ENSG00000176170 |
| UniProt ID | Q9NYA1 |
| OMIM ID | 603730 |
| HGNC ID | 11240 |
| Aliases | SPK, SPHK, SK1, SPHKI, MGC99669 |
Description
SPHK1 encodes sphingosine kinase 1, an enzyme that catalyzes the phosphorylation of sphingosine to sphingosine-1-phosphate (S1P), a bioactive lipid that regulates cell proliferation, survival, migration, and angiogenesis. SPHK1 is overexpressed in many cancers and is implicated in inflammation and fibrosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression leads to increased S1P, promoting cell survival and proliferation | COSMIC; multiple studies |
| Inflammatory diseases | S1P signaling modulates immune cell trafficking and cytokine production | UniProt; literature |
| Fibrosis | S1P promotes fibroblast activation and collagen deposition | UniProt; literature |
| Atherosclerosis | S1P influences endothelial function and vascular inflammation | UniProt; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 20.1 | Medium |
| Spleen | 18.5 | Medium |
| Liver | 15.3 | Medium |
| Kidney | 12.4 | Low |
| Brain | 8.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 25.3 | High expression |
| HeLa (cervical carcinoma) | 22.1 | High expression |
| MCF7 (breast carcinoma) | 18.7 | Medium expression |
| HepG2 (hepatocellular carcinoma) | 15.9 | Medium expression |
| K562 (leukemia) | 12.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.680C>T (p.Pro227Leu) | Missense | 0.01% (COSMIC) | Unknown; likely neutral |
| c.1000G>A (p.Gly334Ser) | Missense | 0.005% (COSMIC) | Unknown; potential functional impact |
| c.1123A>G (p.Ile375Val) | Missense | 0.003% (COSMIC) | Unknown; likely benign |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in SPHK1; gene is typically overexpressed in cancer.
Gain of Function (GOF)
Amplification or overexpression of SPHK1 is common in tumors, leading to increased S1P production and oncogenic signaling.
Dominant Negative (DN)
No dominant-negative mutations described for SPHK1.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • kinase activity |
| • sphingosine kinase activity | • lipid binding |
| • signal transduction | • cell proliferation |
| • apoptotic process | • angiogenesis |
| • response to stress |
Pathways
• Sphingolipid signaling pathway
• S1P receptor signaling
• VEGF signaling pathway
• TNF signaling pathway
• Apoptosis regulation
Protein Summary
SPHK1 is a 384-amino acid lipid kinase that phosphorylates sphingosine to S1P. It is localized to the cytoplasm and plasma membrane, and its activity is regulated by phosphorylation and translocation. SPHK1 promotes cell survival and proliferation, and its overexpression is associated with poor prognosis in various cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPHK1 Knockout HEK293 Cell Line | EDJ-KQ1066 | Human | 8877 | Details Get a Quote |
| SPHK1 Knockout A-549 Cell Line | EDJ-KQ20196 | Human | 8877 | Details Get a Quote |
| SPHK1 Knockout HCT 116 Cell Line | EDJ-KQ20197 | Human | 8877 | Details Get a Quote |
| SPHK1 Knockout HeLa Cell Line | EDJ-KQ18852 | Human | 8877 | Details Get a Quote |
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