PDE1A (phosphodiesterase 1A)
- symbol:
- PDE1A
- locus group:
- protein-coding gene
- location:
- 2q32.1
- gene_family:
- Phosphodiesterases
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 5136
- ensembl gene id:
- ENSG00000115252
- ucsc gene id:
- uc002uoq.3
- refseq accession:
- NM_001003683
- hgnc_id:
- HGNC:8774
- approved reserved:
- 1997-02-05
PDE1A（磷酸二酯酶1A）属于磷酸二酯酶1（PDE1）基因家族，该家族成员均能水解环核苷酸（如cAMP和cGMP），从而调控细胞内信号传导。PDE1A主要在中枢神经系统、心脏和平滑肌中表达，其功能是通过降解cAMP和cGMP来调节神经递质释放、血管舒张和心肌收缩等生理过程。PDE1A的活性依赖于钙离子/钙调蛋白（Ca²⁺/CaM）的激活，因此它在钙信号通路中起关键作用。PDE1A的突变可能导致其酶活性异常，进而影响神经功能或心血管稳态，例如与精神分裂症、阿尔茨海默病和高血压等疾病相关。过表达PDE1A会过度降解cAMP和cGMP，可能抑制神经元可塑性或导致血管过度收缩，而表达降低则可能增强环核苷酸信号，引起异常兴奋或血管舒张失调。PDE1基因家族的共性包括依赖Ca²⁺/CaM激活、广泛参与细胞信号调控以及在神经和心血管系统中的重要作用。研究PDE1A有助于开发针对认知障碍或心血管疾病的靶向药物。
Cyclic nucleotide phosphodiesterases (PDEs) play a role in signal transduction by regulating intracellular cyclic nucleotide concentrations through hydrolysis of cAMP and/or cGMP to their respective nucleoside 5-prime monophosphates. Members of the PDE1 family, such as PDE1A, are Ca(2+)/calmodulin (see CALM1; MIM 114180)-dependent PDEs (CaM-PDEs) that are activated by calmodulin in the presence of Ca(2+) (Michibata et al., 2001 [PubMed 11342109]; Fidock et al., 2002 [PubMed 11747989]).[supplied by OMIM, Oct 2009]
环核苷酸磷酸二酯酶（PDE）通过调节通过cAMP和/或cGMP的水解细胞内环核苷酸的浓度，以它们各自的核苷5‘单磷酸起到信号传导的作用。在PDE1家族成员，如PDE1A，为Ca（2 +）/钙调蛋白（见CALM1; MIM 114180）是由钙调素在钙的存在（2+）（Michibata等激活依赖偏微分方程（CAM-偏微分方程）人，2001年[考研11342109]。Fidock等，2002 [考研11747989]）[由OMIM，2009年10月提供]
基因本体信息
PDE1A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
PDE1A基因的本体（GO）信息：
| 名称 |
|---|
| 230 Purine metabolism [PATH:hsa00230] |
| 4020 Calcium signaling pathway [PATH:hsa04020] |
| 4742 Taste transduction [PATH:hsa04742] |
| 5032 Morphine addiction [PATH:hsa05032] |
| 名称 |
|---|
| Ca-dependent events |
| Calmodulin induced events |
| CaM pathway |
| Cam-PDE 1 activation |
| cGMP effects |
| DAG and IP3 signaling |
| DAP12 interactions |
| DAP12 signaling |
| Downstream signal transduction |
| Downstream signaling of activated FGFR1 |
| Downstream signaling of activated FGFR2 |
| Downstream signaling of activated FGFR3 |
| Downstream signaling of activated FGFR4 |
| EGFR interacts with phospholipase C-gamma |
| G alpha (s) signalling events |
| G-protein mediated events |
| GPCR downstream signaling |
| Hemostasis |
| Immune System |
| Innate Immune System |
| NGF signalling via TRKA from the plasma membrane |
| Nitric oxide stimulates guanylate cyclase |
| Opioid Signalling |
| Phospholipase C-mediated cascade; FGFR2 |
| Phospholipase C-mediated cascade; FGFR3 |
| Phospholipase C-mediated cascade; FGFR4 |
| Phospholipase C-mediated cascade: FGFR1 |
| Platelet homeostasis |
| PLC beta mediated events |
| PLC-gamma1 signalling |
| PLCG1 events in ERBB2 signaling |
| Signaling by EGFR |
| Signaling by ERBB2 |
| Signaling by FGFR |
| Signaling by FGFR1 |
| Signaling by FGFR2 |
| Signaling by FGFR3 |
| Signaling by FGFR4 |
| Signaling by GPCR |
| Signaling by PDGF |
| Signalling by NGF |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Mental Depression | 0.004734064 | 2 | 0 | GAD |
| Atherosclerosis | 0.00272435 | 1 | 0 | LHGDN |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.000271442 | 1 | 0 | BeFree |
| Generalized Anxiety Disorder | 0.000271442 | 1 | 0 | BeFree |
| Acute lymphocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
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