ACACA (acetyl-CoA carboxylase alpha)
- symbol:
- ACACA
- locus group:
- protein-coding gene
- location:
- 17q12
- gene_family:
- alias symbol:
- ACC1|ACC-alpha|ACCA|ACCalpha|ACACalpha|Acac1|hACC1
- alias name:
- acetyl-CoA carboxylase 1
- entrez id:
- 31
- ensembl gene id:
- ENSG00000278540
- ucsc gene id:
- uc284osy.1
- refseq accession:
- NM_198836
- hgnc_id:
- HGNC:84
- approved reserved:
- 1989-09-11
ACACA（乙酰辅酶A羧化酶α）是一个关键代谢酶，属于乙酰辅酶A羧化酶（ACC）基因家族，该家族包括ACACA和ACACB两个成员，共同参与脂肪酸代谢调控。ACACA催化乙酰辅酶A羧化为丙二酰辅酶A，这是脂肪酸合成的限速步骤，其产物丙二酰辅酶A既是脂肪酸合成的底物，又能抑制脂肪酸氧化，因此ACACA在能量平衡中起核心作用。该基因主要在肝脏、脂肪组织和乳腺中高表达，与脂质合成、能量储存密切相关。ACACA功能受激素（如胰岛素）和营养状态调节，磷酸化修饰（如AMPK介导的磷酸化）可抑制其活性以响应能量短缺。突变或表达异常可能导致代谢紊乱，如ACACA功能丧失突变与严重脂肪酸合成缺陷相关，而过度激活则促进肥胖、非酒精性脂肪肝和肿瘤发生（因癌细胞依赖脂质合成增殖）。研究发现ACACA在乳腺癌、前列腺癌等肿瘤中过表达，其抑制剂（如TOFA）显示出抗肿瘤潜力。相反，ACACA表达降低可能导致脂质缺乏，影响细胞膜形成和信号传导。ACACA与ACACB（β亚型）虽功能相似，但组织分布不同：ACACB主导肌肉和心脏中的脂肪酸氧化调控。该基因家族共性为均含生物素羧化酶、羧基转移酶结构域，通过丙二酰辅酶A调节代谢流向。针对ACACA的干预策略（如小分子抑制剂或基因沉默）正在代谢性疾病和癌症治疗中被探索，但需注意其对全身脂质稳态的潜在影响。
Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
乙酰-CoA羧化酶（ACC）是一个复杂的多功能酶系统。 ACC是含生物素的酶，其催化乙酰-CoA到丙二酰-CoA，在脂肪酸合成的限速步骤的羧化。有两种ACC形式，α和β，由两个不同的基因编码。 ACC-α被高度富集脂肪生成的组织。酶是在转录和翻译水平下通过靶向丝氨酸残基的磷酸化/去磷酸化短期调节和由柠檬酸盐或棕榈酰辅酶A变构变换长期控制之下。多个可变剪接转录物变体的5‘序列和编码不同同种型发散已经发现这种基因。 [由RefSeq的，2008年7月提供]
基因本体信息
ACACA基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
ACACA基因的本体（GO）信息：
| 名称 |
|---|
| 1212 Fatty acid metabolism [PATH:hsa01212] |
| 620 Pyruvate metabolism [PATH:hsa00620] |
| 640 Propanoate metabolism [PATH:hsa00640] |
| 61 Fatty acid biosynthesis [PATH:hsa00061] |
| 254 Aflatoxin biosynthesis |
| 4152 AMPK signaling pathway [PATH:hsa04152] |
| 4910 Insulin signaling pathway [PATH:hsa04910] |
| 4922 Glucagon signaling pathway [PATH:hsa04922] |
| 名称 |
|---|
| Activation of gene expression by SREBF (SREBP) |
| Biotin transport and metabolism |
| ChREBP activates metabolic gene expression |
| Defective HLCS causes multiple carboxylase deficiency |
| Defects in biotin (Btn) metabolism |
| Defects in vitamin and cofactor metabolism |
| Disease |
| Diseases of metabolism |
| Fatty acid, triacylglycerol, and ketone body metabolism |
| Fatty Acyl-CoA Biosynthesis |
| Import of palmitoyl-CoA into the mitochondrial matrix |
| Integration of energy metabolism |
| Metabolism |
| Metabolism of lipids and lipoproteins |
| Metabolism of vitamins and cofactors |
| Metabolism of water-soluble vitamins and cofactors |
| Regulation of cholesterol biosynthesis by SREBP (SREBF) |
| Triglyceride Biosynthesis |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Liver carcinoma | 0.120271442 | 2 | 2 | BeFree_CTD_human |
| Celiac Disease | 0.12 | 1 | 1 | GWASCAT |
| Insulin Resistance | 0.08 | 1 | 0 | RGD |
| Fatty Liver | 0.08 | 1 | 0 | RGD |
| Mammary Neoplasms | 0.010897401 | 4 | 0 | LHGDN |
| Malignant neoplasm of breast | 0.006362715 | 6 | 0 | BeFree_GAD |
| Hyperlipidemia | 0.002638474 | 2 | 3 | BeFree_GAD |
| Hypercholesterolemia | 0.002638474 | 2 | 3 | BeFree_GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Hypertriglyceridemia | 0.002367032 | 1 | 0 | GAD |
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