ACSL6: Acyl-CoA Synthetase Long Chain Family Member 6
Key enzyme in fatty acid metabolism, implicated in hematological malignancies and neurological disorders
Gene Information Card
| Symbol | ACSL6 |
|---|---|
| Full Name | Acyl-CoA Synthetase Long Chain Family Member 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 23305 ncbi.nlm.nih.gov/gene/23305 |
| Ensembl ID | ENSG00000113578 |
| UniProt ID | Q9UKU0 |
| OMIM ID | 604443 |
| HGNC ID | 16496 |
| Aliases | LACS5, FACL6, ACS2, KIAA0837 |
Description
ACSL6 encodes a member of the long-chain acyl-CoA synthetase family, which catalyzes the conversion of long-chain fatty acids to their acyl-CoA derivatives, a critical step in fatty acid metabolism. The enzyme is involved in lipid biosynthesis, beta-oxidation, and cellular signaling. Alternative splicing generates multiple transcript variants. ACSL6 is recurrently rearranged in acute myeloid leukemia and myelodysplastic syndrome, and has been associated with susceptibility to schizophrenia and bipolar disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | Fusion genes involving ACSL6 (e.g., ACSL6-ETV6) disrupt normal hematopoiesis | PMID: 10477640, COSMIC |
| Myelodysplastic syndrome | Chromosomal rearrangements at 5q31 involving ACSL6 | PMID: 10477640, COSMIC |
| Schizophrenia | Genetic association with SNPs in ACSL6; altered lipid metabolism in brain | PMID: 16936793, OMIM |
| Bipolar disorder | Association with ACSL6 polymorphisms | PMID: 16936793, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Adipose tissue | 8.3 | Low |
| Liver | 6.1 | Low |
| Bone marrow | 4.2 | Low |
| Testis | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 5.0 | Myelogenous leukemia line |
| HEK 293 | 3.2 | Embryonic kidney |
| HepG2 | 2.8 | Hepatocellular carcinoma |
| SH-SY5Y | 7.1 | Neuroblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| ACSL6-ETV6 fusion | Chromosomal translocation | Rare | Oncogenic fusion protein |
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown functional effect |
| c.567G>A (p.Met189Ile) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
Fusion proteins (e.g., ACSL6-ETV6) may exhibit gain-of-function in leukemogenesis.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004467 - long-chain fatty acid-CoA ligase activity | • GO:0006631 - fatty acid metabolic process |
| • GO:0005739 - mitochondrion | • GO:0005783 - endoplasmic reticulum |
| • GO:0005829 - cytosol | • GO:0016874 - ligase activity |
Pathways
• Fatty acid metabolism (Reactome: R-HSA-8978868)
• Beta-oxidation of fatty acids (Reactome: R-HSA-77289)
• PPAR signaling pathway (KEGG: hsa03320)
Protein Summary
ACSL6 is a 720-amino acid protein localized to mitochondria, endoplasmic reticulum, and cytosol. It activates long-chain fatty acids (C16-C22) by converting them to acyl-CoAs, essential for lipid synthesis and energy production. The protein contains an AMP-binding domain and a fatty acid-CoA ligase domain. Alternative splicing produces isoforms with distinct subcellular localizations and substrate preferences.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACSL6 Knockout HEK293 Cell Line | EDJ-KQ7951 | Human | 23305 | Details Get a Quote |
| ACSL6 Knockout HeLa Cell Line | EDJ-KQ55715 | Human | 23305 | Details Get a Quote |
| ACSL6 Knockout A-549 Cell Line | EDJ-KQ64214 | Human | 23305 | Details Get a Quote |
| ACSL6 Knockout HCT 116 Cell Line | EDC09768 | Human | 23305 | Details Get a Quote |
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