CYP1A1 (cytochrome P450 family 1 subfamily A member 1)
- symbol:
- CYP1A1
- locus group:
- protein-coding gene
- location:
- 15q24.1
- gene_family:
- Cytochrome P450s
- alias symbol:
- P450DX|P1-450|P450-C|CP11
- alias name:
- None
- entrez id:
- 1543
- ensembl gene id:
- ENSG00000140465
- ucsc gene id:
- uc002ayq.5
- refseq accession:
- NM_000499
- hgnc_id:
- HGNC:2595
- approved reserved:
- 1986-01-01
CYP1A1属于细胞色素P450超家族中的CYP1家族，该家族主要参与外源物质的代谢，包括药物、毒素和环境污染物。CYP1A1基因位于人类15号染色体上，编码一种重要的单加氧酶，主要在肝脏、肺、胎盘和肠道中表达。其主要功能是代谢多环芳烃（PAHs）如苯并芘等致癌物，通过氧化反应将其转化为更具水溶性的代谢物以便排出体外。然而，这一过程有时会产生高活性的中间体，可能引起DNA损伤并增加癌症风险。CYP1A1的活性受芳香烃受体（AhR）的调控，当AhR与配体结合后会诱导CYP1A1的表达。CYP1A1基因存在多个多态性位点，如Ile462Val和Thr461Asn等，这些突变可能影响酶的活性。例如，Val462变异体显示出更高的酶活性，可能增加个体对烟草烟雾中致癌物的敏感性，与肺癌、头颈癌等疾病风险相关。CYP1A1过表达可能导致致癌物代谢增强，产生更多DNA损伤性中间体，从而增加癌症风险；而表达降低则可能影响毒素清除效率。CYP1家族成员（包括CYP1A1、CYP1A2和CYP1B1）均参与异生物质代谢，具有相似的底物特异性和调控机制，但组织分布和具体功能有所不同。研究表明CYP1A1在环境致癌物诱导的癌症中起关键作用，其表达水平可作为暴露于PAHs的生物标志物。此外，CYP1A1还参与某些内源性物质如雌激素和类固醇激素的代谢，可能影响激素相关疾病的发展。
This gene, CYP1A1, 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 protein 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. The gene has been associated with lung cancer risk. A related family member, CYP1A2, is located approximately 25 kb away from CYP1A1 on chromosome 15. [provided by RefSeq, Jul 2008]
该基因，CYP1A1，编码酶的细胞色素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。此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。该基因已经与肺癌的风险相关联。一个相关的家庭成员，CYP1A2，位于约25 kb的远离CYP1A1的[由RefSeq的，2008年7月提供] 15号染色体
基因本体信息
CYP1A1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
CYP1A1基因的本体（GO）信息：
| 名称 |
|---|
| 140 Steroid hormone biosynthesis [PATH:hsa00140] |
| 380 Tryptophan metabolism [PATH:hsa00380] |
| 830 Retinol metabolism [PATH:hsa00830] |
| 980 Metabolism of xenobiotics by cytochrome P450 [PATH:hsa00980] |
| 4913 Ovarian Steroidogenesis [PATH:hsa04913] |
| 5204 Chemical carcinogenesis [PATH:hsa05204] |
| 名称 |
|---|
| Arachidonic acid metabolism |
| Biological oxidations |
| Cytochrome P450 - arranged by substrate type |
| 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 (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 |
| Diabetes Mellitus, Experimental | 0.2 | 2 | 0 | CTD_human_RGD |
| Hyperoxia | 0.2 | 3 | 0 | CTD_human_RGD |
| Mammary Neoplasms | 0.159412236 | 21 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Prostatic Neoplasms | 0.136617543 | 9 | 0 | BeFree_CTD_human_LHGDN |
| Liver carcinoma | 0.133963088 | 35 | 0 | BeFree_CTD_human_GAD |
| Chronic Obstructive Airway Disease | 0.132735362 | 6 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Male infertility | 0.131725539 | 9 | 3 | BeFree_CTD_human_GAD_LHGDN |
| Hypertensive disease | 0.123995683 | 8 | 0 | BeFree_CTD_human_GAD |
| Malignant neoplasm of lung | 0.123702141 | 179 | 5 | BeFree_GAD |
| Hypersensitivity | 0.122367032 | 2 | 0 | CTD_human_GAD |
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