CYP7A1 (cytochrome P450 family 7 subfamily A member 1)
- symbol:
- CYP7A1
- locus group:
- protein-coding gene
- location:
- 8q12.1
- gene_family:
- Cytochrome P450s
- alias symbol:
- None
- alias name:
- cholesterol 7 alpha-monooxygenase|…
- entrez id:
- 1581
- ensembl gene id:
- ENSG00000167910
- ucsc gene id:
- uc003xtm.5
- refseq accession:
- NM_000780
- hgnc_id:
- HGNC:2651
- approved reserved:
- 1992-04-16
CYP7A1（胆固醇7α-羟化酶）是细胞色素P450超家族（CYP家族）的成员，属于CYP7家族。该基因主要在肝脏中表达，编码的酶是胆汁酸合成的限速酶，负责将胆固醇转化为7α-羟基胆固醇，这是胆汁酸合成的第一步。CYP7A1在胆固醇代谢中起核心作用，通过促进胆固醇转化为胆汁酸来调节体内胆固醇水平。该基因的突变可能导致胆汁酸合成障碍，引发高胆固醇血症、胆结石或胆汁淤积性肝病等疾病。CYP7A1的表达受多种因素调控，包括胆汁酸反馈抑制、激素（如胰岛素和胰高血糖素）以及核受体（如FXR和LXR）。当CYP7A1过表达时，会增加胆汁酸合成，降低血浆胆固醇水平，但可能导致肝损伤或腹泻；而表达降低时，会引起胆固醇积累，增加动脉粥样硬化风险。CYP7A1与多种代谢性疾病相关，如非酒精性脂肪肝病（NAFLD）和2型糖尿病。CYP7家族成员主要参与胆固醇和胆汁酸代谢，具有相似的底物特异性和氧化酶活性。CYP7A1的活性还影响其他基因的表达，如调节ABCA1（胆固醇转运蛋白）和SREBP（胆固醇合成调控因子）。由于其在脂质代谢中的关键作用，CYP7A1是治疗高胆固醇血症和胆汁酸相关疾病的潜在靶点。
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway in the liver, which converts cholesterol to bile acids. This reaction is the rate limiting step and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of cholesterol from the body. Polymorphisms in the promoter of this gene are associated with defects in bile acid synthesis. [provided by RefSeq, Feb 2010]
该基因编码的酶的细胞色素P450超家族的成员。细胞色素P450蛋白是能催化涉及药物代谢和胆固醇，类固醇和其他脂类的合成许多反应单加氧酶。这种内质网的膜蛋白催化在肝脏中的胆固醇分解代谢途径，它转换胆固醇胆汁酸的第一反应。此反应是在限速步骤和胆汁酸的合成，它是用于从身体中除去的胆固醇的主要机制调控的主要部位。在该基因的启动子多态性与胆汁酸合成的缺陷相关联。 [由RefSeq的，2010年2月提供]
基因本体信息
CYP7A1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
CYP7A1基因的本体（GO）信息：
| 名称 |
|---|
| 120 Primary bile acid biosynthesis [PATH:hsa00120] |
| 140 Steroid hormone biosynthesis [PATH:hsa00140] |
| 3320 PPAR signaling pathway [PATH:hsa03320] |
| 4976 Bile secretion [PATH:hsa04976] |
| 名称 |
|---|
| Bile acid and bile salt metabolism |
| Biological oxidations |
| Cytochrome P450 - arranged by substrate type |
| Endogenous sterols |
| Fatty acid, triacylglycerol, and ketone body metabolism |
| Metabolism |
| Metabolism of lipids and lipoproteins |
| Phase 1 - Functionalization of compounds |
| PPARA activates gene expression |
| Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) |
| Synthesis of bile acids and bile salts |
| Synthesis of bile acids and bile salts via 27-hydroxycholesterol |
| Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Hypercholesterolemia | 0.12764398 | 6 | 0 | BeFree_CTD_human_GAD |
| Cholestasis | 0.120814326 | 5 | 0 | BeFree_CTD_human |
| Coronary Artery Disease | 0.008186863 | 5 | 0 | BeFree_GAD |
| Hyperlipidemia | 0.007729856 | 3 | 0 | BeFree_GAD_LHGDN |
| Cholelithiasis | 0.006091273 | 6 | 0 | BeFree_GAD |
| Coronary Arteriosclerosis | 0.00554839 | 4 | 0 | BeFree_GAD |
| Colorectal Cancer | 0.005276948 | 3 | 0 | BeFree_GAD |
| Cardiovascular Diseases | 0.005276948 | 4 | 0 | BeFree_GAD |
| Hypertriglyceridemia | 0.004734064 | 2 | 0 | GAD |
| Malignant neoplasm of urinary bladder | 0.004734064 | 2 | 1 | GAD |
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