ACSS1: Acyl-CoA Synthetase Short Chain Family Member 1
Mitochondrial Acetyl-CoA Synthetase Involved in Acetate Metabolism and Energy Homeostasis
Gene Information Card
| Symbol | ACSS1 |
|---|---|
| Full Name | Acyl-CoA Synthetase Short Chain Family Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 20p11.21 |
| NCBI Gene ID | 84532 ncbi.nlm.nih.gov/gene/84532 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9NUB1 |
| OMIM ID | 614355 |
| HGNC ID | 23491 |
| Aliases | ACAS2L, ACS, ACECS1, MGC2615 |
Description
ACSS1 encodes a mitochondrial acetyl-CoA synthetase that catalyzes the conversion of acetate to acetyl-CoA, a key metabolite in energy production and lipid biosynthesis. The enzyme is primarily expressed in tissues with high energy demands, such as heart and skeletal muscle, and plays a role in acetate utilization under ketogenic conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acetate metabolism disorders | Deficiency in ACSS1 may impair mitochondrial acetate activation, leading to energy deficiency in high-demand tissues. | ClinVar: pathogenic variants reported in individuals with metabolic acidosis and encephalopathy. |
| Cancer (colorectal, breast) | Altered ACSS1 expression may influence tumor metabolism by modulating acetate-dependent lipogenesis and histone acetylation. | COSMIC: somatic mutations and copy number alterations observed in colorectal and breast cancer samples. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal Muscle | 8.3 | Medium |
| Liver | 3.1 | Low |
| Kidney | 2.7 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 5.4 | Cervical cancer cell line |
| HepG2 | 3.8 | Hepatocellular carcinoma cell line |
| MCF7 | 2.1 | Breast cancer cell line |
| A549 | 1.5 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Reduced enzyme activity in vitro |
| c.457G>A (p.Gly153Arg) | Missense | <0.01% | Impaired mitochondrial localization |
| c.832_833del (p.Leu278fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Leu278fs) lead to truncated protein and loss of acetyl-CoA synthetase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003987 - acetate-CoA ligase activity | • GO:0005739 - mitochondrion |
| • GO:0006085 - acetyl-CoA biosynthetic process from acetate | • GO:0016874 - ligase activity |
Pathways
• Acetate metabolism (Reactome: R-HSA-8978868)
• Pyruvate metabolism and Citric Acid (TCA) cycle (KEGG: map00620)
Protein Summary
ACSS1 is a 689-amino acid mitochondrial enzyme that catalyzes the ATP-dependent ligation of acetate to coenzyme A, forming acetyl-CoA. It is essential for acetate utilization in energy metabolism, particularly during fasting or ketogenic states. The protein contains a conserved AMP-binding domain and is localized to the mitochondrial matrix.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACSS1 Knockout HEK293 Cell Line | EDJ-KQ10114 | Human | 84532 | Details Get a Quote |
| ACSS1 Knockout A-549 Cell Line | EDJ-KQ37206 | Human | 84532 | Details Get a Quote |
| ACSS1 Knockout HeLa Cell Line | EDJ-KQ57610 | Human | 84532 | Details Get a Quote |
| ACSS1 Knockout HCT 116 Cell Line | EDJ-KQ74529 | Human | 84532 | Details Get a Quote |
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