AP2A1 (adaptor related protein complex 2 subunit alpha 1)
- symbol:
- AP2A1
- locus group:
- protein-coding gene
- location:
- 19q13.33
- gene_family:
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 160
- ensembl gene id:
- ENSG00000196961
- ucsc gene id:
- uc002ppn.4
- refseq accession:
- NM_014203
- hgnc_id:
- HGNC:561
- approved reserved:
- 2000-09-01
AP2A1（Adaptor Related Protein Complex 2 Alpha 1 Subunit）是AP-2复合体的一个关键亚基，属于网格蛋白适配器蛋白家族。AP-2复合体由α、β2、μ2和σ2四个亚基组成，主要功能是介导网格蛋白包被小泡的形成，参与细胞膜内吞过程。AP2A1编码AP-2复合体的α亚基，在细胞膜受体介导的内吞中起核心作用，帮助招募网格蛋白和其他辅助蛋白到细胞膜特定区域，促进囊泡形成。AP2A1主要作用位点是细胞膜和高尔基体，通过与膜受体和细胞骨架蛋白相互作用调控内吞过程。AP2A1突变可能导致内吞功能障碍，影响神经递质受体、生长因子受体等的膜运输，与神经系统疾病、癌症和代谢紊乱相关。例如，AP2A1突变与阿尔茨海默病有关，可能通过影响淀粉样前体蛋白（APP）的内吞和加工促进β-淀粉样蛋白积累。AP2A1过表达可能增强内吞活性，导致某些受体过度内化，影响信号传导；而表达降低则可能损害内吞功能，导致受体在细胞膜上异常积累，影响细胞对外界信号的响应。AP2A1属于AP基因家族，该家族成员（如AP1A1、AP3B1等）均参与细胞内囊泡运输，具有相似的蛋白结构和功能，通过形成多亚基复合体介导不同细胞区室间的膜运输。AP2A1及其家族成员在维持细胞稳态、信号转导和发育过程中发挥重要作用。
This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]
该基因编码的接头蛋白2（AP-2）复杂的网格蛋白被小泡中的α1 adaptin亚基。在AP-2复合物是由两个大adaptins（α或β），中等adaptin（亩），和一个小adaptin（SIGMA）一个异四聚体。复杂的是在被小泡的细胞质脸上的蛋白质外壳这在囊泡链接到网格蛋白受体的一部分。两个转录本基因导致选择性剪接变异体的编码两个不同的亚型。第三个转录变体进行了说明，但其全长性质尚未确定。 [由RefSeq的，2008年7月提供]
基因本体信息
AP2A1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
AP2A1基因的本体（GO）信息：
| 名称 |
|---|
| 4144 Endocytosis [PATH:hsa04144] |
| 4961 Endocrine and other factor-regulated calcium reabsorption [PATH:hsa04961] |
| 4721 Synaptic vesicle cycle [PATH:hsa04721] |
| 5016 Huntington's disease [PATH:hsa05016] |
| 名称 |
|---|
| Adaptive Immune System |
| Axon guidance |
| beta-catenin independent WNT signaling |
| Developmental Biology |
| Disease |
| EGFR downregulation |
| EPH-ephrin mediated repulsion of cells |
| EPH-Ephrin signaling |
| Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity |
| HIV Infection |
| Host Interactions of HIV factors |
| Immune System |
| Infectious disease |
| L1CAM interactions |
| MHC class II antigen presentation |
| Nef Mediated CD4 Down-regulation |
| Nef Mediated CD8 Down-regulation |
| Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters |
| Neuronal System |
| Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell |
| NGF signalling via TRKA from the plasma membrane |
| PCP/CE pathway |
| Recycling pathway of L1 |
| Retrograde neurotrophin signalling |
| Signal Transduction |
| Signaling by EGFR |
| Signaling by Wnt |
| Signalling by NGF |
| The role of Nef in HIV-1 replication and disease pathogenesis |
| Trafficking of AMPA receptors |
| Trafficking of GluR2-containing AMPA receptors |
| Transmission across Chemical Synapses |
| WNT5A-dependent internalization of FZD2, FZD5 and ROR2 |
| WNT5A-dependent internalization of FZD4 |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| melanoma | 0.001085767 | 4 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000542884 | 2 | 0 | BeFree |
| Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Tumor Progression | 0.000542884 | 2 | 0 | BeFree |
| Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
| Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
| Branchio-Oculo-Facial Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Leukemia, Myelocytic, Acute | 0.000271442 | 1 | 0 | BeFree |
| Gastric Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
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