SLC27A5: Solute Carrier Family 27 Member 5
A key bile acid-CoA ligase involved in lipid metabolism and cholestasis
Gene Information Card
| Symbol | SLC27A5 |
|---|---|
| Full Name | Solute Carrier Family 27 Member 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.43 |
| NCBI Gene ID | 10998 ncbi.nlm.nih.gov/gene/10998 |
| Ensembl ID | ENSG00000167114 |
| UniProt ID | Q9Y2P5 |
| OMIM ID | 603314 |
| HGNC ID | 10997 |
| Aliases | FATP5, VLACS, ACSVL6, FACVL3 |
Description
SLC27A5 (Solute Carrier Family 27 Member 5) encodes a very long-chain acyl-CoA synthetase that functions as a bile acid-CoA ligase. It catalyzes the conjugation of bile acids with coenzyme A, a critical step in bile acid synthesis and enterohepatic circulation. The protein is primarily expressed in the liver and plays a role in lipid homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Progressive Familial Intrahepatic Cholestasis | Deficient bile acid-CoA ligase activity leads to impaired bile acid conjugation and cholestasis | ClinVar, OMIM |
| Hypercholanemia | Reduced SLC27A5 function causes elevated serum bile acids | OMIM |
| Non-alcoholic Fatty Liver Disease (NAFLD) | Altered lipid metabolism and bile acid signaling contribute to hepatic steatosis | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 48.2 | High |
| Kidney | 1.5 | Low |
| Small Intestine | 0.8 | Low |
| Adipose Tissue | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 12.5 | Hepatocellular carcinoma cell line |
| Huh7 | 10.8 | Hepatoma cell line |
| HEK293 | 0.2 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042C>T (p.Arg348*) | Nonsense | <0.01% | Loss of function, associated with cholestasis |
| c.152G>A (p.Arg51Gln) | Missense | <0.01% | Reduced enzyme activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that impair bile acid-CoA ligase activity lead to cholestasis and hypercholanemia.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Bile acid biosynthesis (Reactome: R-HSA-194068)
• Fatty acid metabolism (KEGG: hsa00071)
• PPAR signaling pathway (KEGG: hsa03320)
Protein Summary
SLC27A5 encodes a 690-amino acid protein (bile acid-CoA ligase) localized to the endoplasmic reticulum. It activates bile acids by conjugating them with CoA, enabling their transport and secretion. The protein also exhibits very long-chain acyl-CoA synthetase activity, contributing to fatty acid metabolism. Defects cause cholestatic liver disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC27A5 Knockout HEK293 Cell Line | EDJ-KQ7238 | Human | 10998 | Details Get a Quote |
| SLC27A5 Knockout A-549 Cell Line | EDJ-KQ32216 | Human | 10998 | Details Get a Quote |
| SLC27A5 Knockout HCT 116 Cell Line | EDJ-KQ32217 | Human | 10998 | Details Get a Quote |
| SLC27A5 Knockout HeLa Cell Line | EDJ-KQ32218 | Human | 10998 | Details Get a Quote |
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