SPHK1
sphK1 Gene: A Master Regulator of Sphingosine Metabolism
Description
The sphingosine kinase 1 (sphK1) gene is located on chromosome 17 in humans. It encodes an enzyme called sphingosine kinase 1, which plays a pivotal role in the metabolism of sphingosine, a key signaling molecule involved in various cellular processes, including cell growth, differentiation, and apoptosis.
sphK1 catalyzes the phosphorylation of sphingosine to produce sphingosine-1-phosphate (S1P), a bioactive lipid molecule that exerts diverse effects on cell behavior. S1P regulates angiogenesis, cell migration, immune function, and blood vessel permeability.
Associated Diseases
Impaired sphK1 function is linked to several human diseases:
- Cancer: Elevated sphK1 activity promotes tumor growth, angiogenesis, and metastasis in various cancers, including breast, colon, and lung cancer.
- Cardiovascular disease: Dysregulated S1P signaling by sphK1 contributes to atherosclerosis, heart failure, and pulmonary hypertension.
- Inflammatory diseases: SphK1 modulates inflammatory responses in conditions such as rheumatoid arthritis, inflammatory bowel disease, and sepsis.
- Neurodegenerative diseases: Altered sphK1 activity is implicated in the pathogenesis of Alzheimer's disease, Parkinson's disease, and multiple sclerosis.
Did you Know ?
In a study published in the journal "Nature Medicine," researchers found that individuals with higher levels of sphK1 activity had a 2.5-fold increased risk of developing cardiovascular disease.
