SLC27A6: Solute Carrier Family 27 Member 6
Fatty acid transport protein 6 (FATP6) - lipid metabolism and transport
Gene Information Card
| Symbol | SLC27A6 |
|---|---|
| Full Name | Solute Carrier Family 27 Member 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q23.3 |
| NCBI Gene ID | 28965 ncbi.nlm.nih.gov/gene/28965 |
| Ensembl ID | ENSG00000113396 |
| UniProt ID | Q9Y2P4 |
| OMIM ID | 604194 |
| HGNC ID | 10999 |
| Aliases | FATP6, VLCS-H1, ACSVL2, FLJ22341 |
Description
SLC27A6 (Solute Carrier Family 27 Member 6) encodes a member of the fatty acid transport protein family, also known as FATP6. This protein is a very long-chain acyl-CoA synthetase that activates long-chain and very long-chain fatty acids for cellular uptake and metabolism. It is highly expressed in heart and kidney and plays a role in lipid homeostasis. Mutations and altered expression have been implicated in metabolic disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertrophic cardiomyopathy | Altered fatty acid transport and energy metabolism in cardiac tissue | PMID: 14645228 |
| Renal cell carcinoma | Dysregulated lipid metabolism via SLC27A6 overexpression | COSMIC, TCGA data |
| Colorectal cancer | SLC27A6 hypermethylation and reduced expression linked to tumor progression | PMID: 25944712 |
| Obesity and insulin resistance | Impaired fatty acid uptake and storage in adipose tissue | PMID: 17921329 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 27.8 | High |
| Kidney | 15.2 | Medium |
| Liver | 4.1 | Low |
| Skeletal muscle | 3.5 | Low |
| Adipose tissue | 2.9 | Low |
| Lung | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.5 | Moderate expression |
| HepG2 | 8.3 | Moderate expression |
| MCF7 | 2.1 | Low expression |
| A549 | 1.8 | Low expression |
| K562 | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1135C>T (p.Arg379Cys) | Missense | <0.01% | Unknown; predicted damaging by SIFT |
| c.1522G>A (p.Gly508Arg) | Missense | <0.01% | Unknown; predicted benign |
| c.1765_1766insA | Frameshift | <0.01% | Loss of function |
| c.1990C>T (p.Arg664Trp) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Frameshift insertion c.1765_1766insA leads to premature stop and loss of acyl-CoA synthetase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Fatty acid metabolism (Reactome: R-HSA-8978868)
• Fatty acid transport (Reactome: R-HSA-381340)
• PPAR signaling pathway (KEGG: hsa03320)
• Adipocytokine signaling pathway (KEGG: hsa04920)
Protein Summary
SLC27A6 encodes fatty acid transport protein 6 (FATP6), a 646-amino acid transmembrane protein localized to the plasma membrane and endoplasmic reticulum. It functions as a very long-chain acyl-CoA synthetase, catalyzing the ATP-dependent conversion of fatty acids to acyl-CoA esters, a critical step for cellular fatty acid uptake and subsequent metabolic utilization. FATP6 is predominantly expressed in heart and kidney, where it facilitates fatty acid import for energy production. Structural studies indicate a conserved AMP-binding domain and a FATP-specific region essential for transport activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC27A6 Knockout HEK293 Cell Line | EDJ-KQ8943 | Human | 28965 | Details Get a Quote |
| SLC27A6 Knockout HCT 116 Cell Line | EDJ-KQ35301 | Human | 28965 | Details Get a Quote |
| SLC27A6 Knockout HeLa Cell Line | EDJ-KQ56078 | Human | 28965 | Details Get a Quote |
| SLC27A6 Knockout A-549 Cell Line | EDJ-KQ64563 | Human | 28965 | Details Get a Quote |
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