CYP1A2 (cytochrome P450 family 1 subfamily A member 2)
- symbol:
- CYP1A2
- locus group:
- protein-coding gene
- location:
- 15q24.1
- gene_family:
- Cytochrome P450s
- alias symbol:
- P3-450|CP12
- alias name:
- None
- entrez id:
- 1544
- ensembl gene id:
- ENSG00000140505
- ucsc gene id:
- uc002ayr.2
- refseq accession:
- NM_000761
- hgnc_id:
- HGNC:2596
- approved reserved:
- 1990-04-25
CYP1A2是细胞色素P450酶家族（CYP450）的重要成员，属于CYP1基因亚家族。这个基因家族主要编码单加氧酶，参与外源性和内源性化合物的代谢，包括药物、毒素和激素等。CYP1A2主要在肝脏中表达，负责代谢多种临床常用药物如咖啡因、氯氮平、茶碱和华法林等，同时也参与某些前致癌物的激活过程。该基因的表达受多种因素调控，包括吸烟、某些药物（如奥美拉唑）和多环芳烃等环境污染物可诱导其表达。CYP1A2基因具有多态性，目前已发现多种影响酶活性的遗传变异，如CYP1A2*1F突变会导致酶活性降低，而CYP1A2*1A则与高代谢活性相关。这些遗传变异可导致个体间药物代谢能力的显著差异，影响药物疗效和毒性。例如，CYP1A2慢代谢者可能更容易出现咖啡因相关副作用，而快代谢者则可能需要更高剂量的某些药物才能达到治疗效果。CYP1A2的异常表达与多种疾病相关，其过表达可能增加某些化学致癌物（如芳香胺和杂环胺）的活化，从而增加肝癌、肺癌等癌症风险；而表达降低则可能导致某些药物蓄积中毒。此外，CYP1A2活性改变还与帕金森病、子宫内膜异位症等疾病的发生发展有关。在药物研发和临床用药中，了解患者的CYP1A2基因型有助于实现个体化用药，提高治疗效果并减少不良反应。
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. The protein encoded by this gene localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. Other xenobiotic substrates for this enzyme include caffeine, aflatoxin B1, and acetaminophen. The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3' untranslated region. [provided by RefSeq, Jul 2008]
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。由该基因编码的蛋白质定位于内质网和它的表达是由一些多环芳香烃（PAHs），其中一些在香烟烟雾中发现诱导。酶的内源性底物是未知的;但是，它是能够代谢一些多环芳烃致癌中间体。这种酶的其他外源性底物包括咖啡因，黄曲霉毒素B1和对乙酰氨基酚。从该基因转录包含通过在3‘非编码区直接重复侧翼4的Alu序列。 [由RefSeq的，2008年7月提供]
基因本体信息
CYP1A2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
CYP1A2基因的本体（GO）信息：
| 名称 |
|---|
| 140 Steroid hormone biosynthesis [PATH:hsa00140] |
| 591 Linoleic acid metabolism [PATH:hsa00591] |
| 380 Tryptophan metabolism [PATH:hsa00380] |
| 830 Retinol metabolism [PATH:hsa00830] |
| 232 Caffeine metabolism [PATH:hsa00232] |
| 980 Metabolism of xenobiotics by cytochrome P450 [PATH:hsa00980] |
| 982 Drug metabolism - cytochrome P450 [PATH:hsa00982] |
| 5204 Chemical carcinogenesis [PATH:hsa05204] |
| 名称 |
|---|
| Aflatoxin activation and detoxification |
| Arachidonic acid metabolism |
| Aromatic amines can be N-hydroxylated or N-dealkylated by CYP1A2 |
| Biological oxidations |
| Cytochrome P450 - arranged by substrate type |
| Metabolism |
| Metabolism of lipids and lipoproteins |
| Methylation |
| Phase 1 - Functionalization of compounds |
| Phase II conjugation |
| Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE) |
| Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET) |
| Xenobiotics |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Colorectal Neoplasms | 0.132549796 | 5 | 0 | CTD_human_GAD_LHGDN |
| Chronic Obstructive Airway Disease | 0.13246392 | 4 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Porphyria Cutanea Tarda | 0.12827274 | 4 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Liver diseases | 0.122909916 | 4 | 0 | BeFree_CTD_human_GAD |
| Lung Neoplasms | 0.12272435 | 2 | 0 | CTD_human_LHGDN |
| Neural Tube Defects | 0.122367032 | 1 | 1 | CTD_human_GAD |
| Squamous cell carcinoma | 0.120542884 | 2 | 0 | BeFree_CTD_human |
| Methemoglobinemia | 0.12 | 1 | 0 | CTD_human |
| Liver Cirrhosis, Experimental | 0.12 | 1 | 0 | CTD_human |
| Atrophic | 0.12 | 1 | 0 | CTD_human |
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