PLA2G5 (phospholipase A2 group V)
- symbol:
- PLA2G5
- locus group:
- protein-coding gene
- location:
- 1p36.13
- gene_family:
- Phospholipases
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 5322
- ensembl gene id:
- ENSG00000127472
- ucsc gene id:
- uc001bcy.4
- refseq accession:
- NM_000929
- hgnc_id:
- HGNC:9038
- approved reserved:
- 1994-11-30
PLA2G5（磷脂酶A2第V组）属于分泌型磷脂酶A2（sPLA2）基因家族，该家族成员通过水解细胞膜磷脂的sn-2位酯键释放脂肪酸（如花生四烯酸）和溶血磷脂，参与炎症反应、信号传导和脂质代谢等过程。PLA2G5主要在胰腺、脾脏、肺和睾丸等组织中表达，其编码的蛋白质具有钙依赖性催化活性，需要毫摩尔级钙离子激活。该酶通过产生促炎介质（如前列腺素和白三烯）参与先天免疫应答，同时在脂蛋白代谢中起调节作用，特别是影响低密度脂蛋白（LDL）的氧化修饰。PLA2G5的突变可能导致酶活性改变，例如某些错义突变会降低其水解能力，与代谢异常或动脉粥样硬化风险相关。研究发现PLA2G5过表达会促进炎症反应，加剧动脉粥样硬化斑块形成，并可能通过增加氧化LDL水平参与心血管疾病发展；而敲除该基因的小鼠则表现出减少的动脉粥样硬化病变和较低的全身炎症水平。PLA2G5还与过敏性疾病（如哮喘）相关，因其能增强Th2型免疫反应。在sPLA2家族中，各成员共享核心的钙结合位点（YGKYCGxxxxC）和催化位点（HIS-ASP）结构，但PLA2G5独特之处在于其对磷脂酰胆碱的高亲和力。该基因的调控异常还可能影响其他脂代谢相关基因（如APOE、LDLR）的表达，形成复杂的代谢网络。目前针对PLA2G5的抑制剂正在研发中，旨在治疗炎症性和代谢性疾病。
This gene is a member of the secretory phospholipase A2 family. It is located in a tightly-linked cluster of secretory phospholipase A2 genes on chromosome 1. The encoded enzyme catalyzes the hydrolysis of membrane phospholipids to generate lysophospholipids and free fatty acids including arachidonic acid. It preferentially hydrolyzes linoleoyl-containing phosphatidylcholine substrates. Secretion of this enzyme is thought to induce inflammatory responses in neighboring cells. Alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
此基因是分泌型磷脂酶A2的家族的一个成员。它位于分泌磷脂酶A2基因1号染色体上紧密连接的簇编码的酶催化膜磷脂的水解生成溶血磷脂和游离脂肪酸包括花生四烯酸。它优先水解含亚油酰磷脂酰胆碱基板。这种酶的分泌被认为是诱导对相邻小区中的炎症反应。可变剪接转录物变体已被发现，但它们的全长性质尚未确定。 [由RefSeq的，2008年7月提供]
基因本体信息
PLA2G5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
PLA2G5基因的本体（GO）信息：
| 名称 |
|---|
| 564 Glycerophospholipid metabolism [PATH:hsa00564] |
| 565 Ether lipid metabolism [PATH:hsa00565] |
| 590 Arachidonic acid metabolism [PATH:hsa00590] |
| 591 Linoleic acid metabolism [PATH:hsa00591] |
| 592 alpha-Linolenic acid metabolism [PATH:hsa00592] |
| 4014 Ras signaling pathway [PATH:hsa04014] |
| 4270 Vascular smooth muscle contraction [PATH:hsa04270] |
| 4972 Pancreatic secretion [PATH:hsa04972] |
| 4975 Fat digestion and absorption [PATH:hsa04975] |
| 名称 |
|---|
| Acyl chain remodelling of PC |
| Acyl chain remodelling of PE |
| Acyl chain remodelling of PG |
| Acyl chain remodelling of PI |
| Acyl chain remodelling of PS |
| Glycerophospholipid biosynthesis |
| Metabolism of lipids and lipoproteins |
| Phospholipid metabolism |
| Synthesis of PA |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Fleck Retina, Familial Benign | 0.36 | 1 | 3 | CLINVAR_ORPHANET_UNIPROT |
| Infection | 0.0054487 | 2 | 0 | LHGDN |
| Liver diseases | 0.00272435 | 1 | 0 | LHGDN |
| Fibrosis | 0.00272435 | 1 | 0 | LHGDN |
| Coronary heart disease | 0.000542884 | 2 | 1 | BeFree |
| Coronary Arteriosclerosis | 0.000542884 | 2 | 1 | BeFree |
| Obesity | 0.000271442 | 1 | 0 | BeFree |
| Adenomatous polyp of colon | 0.000271442 | 1 | 0 | BeFree |
| Neurodegenerative Disorders | 0.000271442 | 1 | 0 | BeFree |
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