SLC27A1 Gene - Fatty Acid Transport Protein 1 (FATP1) | Function, Mutations & Disease

SLC27A1 (Solute Carrier Family 27 Member 1) encodes fatty acid transport protein 1 (FATP1), a transmembrane protein that facilitates the uptake of long-chain and very long-chain fatty acids into cells. FATP1 also exhibits acyl-CoA synthetase activity, converting fatty acids to acyl-CoAs for lipid metabolism. It is highly expressed in tissues with active fatty acid utilization, such as adipose tissue, skeletal muscle, heart, and liver. SLC27A1 plays a critical role in lipid homeostasis, insulin sensitivity, and energy balance. Dysregulation is associated with metabolic disorders, including obesity, insulin resistance, and type 2 diabetes.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Fatty acid transport (Reactome: R-HSA-382551)

• Fatty acid metabolism (KEGG: hsa00071)

• PPAR signaling pathway (KEGG: hsa03320)

• Adipocytokine signaling pathway (KEGG: hsa04920)

The SLC27A1 protein (FATP1) is a 646-amino acid transmembrane protein with a molecular weight of approximately 71 kDa. It contains a mitochondrial targeting sequence and a conserved AMP-binding domain characteristic of acyl-CoA synthetases. FATP1 localizes to the plasma membrane and mitochondria, where it mediates both the transport of long-chain fatty acids and their conversion to acyl-CoAs. The protein is regulated by insulin and PPARγ agonists, and its expression is induced during adipocyte differentiation. Structural studies indicate that FATP1 forms homodimers and interacts with other lipid metabolism proteins. Post-translational modifications include phosphorylation at Ser-247, which modulates activity.