ADCY1(腺苷酸环化酶1)属于腺苷酸环化酶(AC)基因家族,该家族共有9个成员(ADCY1-9),它们共同编码腺苷酸环化酶,负责将ATP转化为第二信使cAMP,从而参与多种细胞信号传导通路。ADCY1主要在神经系统高表达,尤其是大脑皮层、海马和小脑,其产生的cAMP通过激活蛋白激酶A(PKA)调控神经元可塑性、学习记忆等关键功能。该基因定位于7p12.3,其蛋白产物具有典型的12次跨膜结构域和两个胞质催化结构域,受G蛋白偶联受体(GPCR)的Gsα亚基激活。ADCY1功能异常与多种神经系统疾病相关:突变可能导致智力障碍或精神分裂症风险增加,而阿尔茨海默病患者脑中常观察到ADCY1表达下降,这可能通过减少cAMP水平加剧tau蛋白过度磷酸化。过表达实验显示ADCY1能增强突触可塑性并改善记忆功能,但持续高活性可能导致异常神经兴奋;反之表达降低会损害长时程增强(LTP)效应。该基因还参与调节心脏功能,在心肌细胞中与β-肾上腺素受体信号偶联,其表达异常可能影响心脏收缩力。ADCY家族成员均含保守的催化核心区,但组织分布和调控机制各异:ADCY1对钙调蛋白敏感,而ADCY5主要受Gi蛋白抑制。最新研究发现ADCY1与疼痛感知相关,其抑制剂可能成为新型镇痛靶点。在癌症中,ADCY1表达变化与胶质瘤进展相关,可能通过影响CREB信号通路促进肿瘤侵袭。
This gene encodes a member of the of adenylate cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/calmodulin concentration and may be involved in brain development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
该基因编码的腺苷酸环化酶基因家族是主要在脑中表达的成员。该蛋白质是通过钙/钙调蛋白浓度调节并可能参与脑发育。选择性剪接结果在多个抄本变形。 [由RefSeq的,2013年8月提供]
ADCY1基因(以及对应的蛋白质)的细胞分布位置:
ADCY1基因的本体(GO)信息:
| 名称 |
|---|
| 230 Purine metabolism [PATH:hsa00230] |
| 4015 Rap1 signaling pathway [PATH:hsa04015] |
| 4020 Calcium signaling pathway [PATH:hsa04020] |
| 4024 cAMP signaling pathway [PATH:hsa04024] |
| 4022 cGMP - PKG signaling pathway [PATH:hsa04022] |
| 4114 Oocyte meiosis [PATH:hsa04114] |
| 4540 Gap junction [PATH:hsa04540] |
| 4611 Platelet activation [PATH:hsa04611] |
| 4062 Chemokine signaling pathway [PATH:hsa04062] |
| 4911 Insulin secretion [PATH:hsa04911] |
| 4912 GnRH signaling pathway [PATH:hsa04912] |
| 4913 Ovarian Steroidogenesis [PATH:hsa04913] |
| 4915 Estrogen signaling pathway [PATH:hsa04915] |
| 4914 Progesterone-mediated oocyte maturation [PATH:hsa04914] |
| 4921 Oxytocin signaling pathway [PATH:hsa04921] |
| 4918 Thyroid hormone synthesis [PATH:hsa04918] |
| 4916 Melanogenesis [PATH:hsa04916] |
| 4261 Adrenergic signaling in cardiomyocytes [PATH:hsa04261] |
| 4270 Vascular smooth muscle contraction [PATH:hsa04270] |
| 4970 Salivary secretion [PATH:hsa04970] |
| 4971 Gastric acid secretion [PATH:hsa04971] |
| 4972 Pancreatic secretion [PATH:hsa04972] |
| 4976 Bile secretion [PATH:hsa04976] |
| 4724 Glutamatergic synapse [PATH:hsa04724] |
| 4727 GABAergic synapse [PATH:hsa04727] |
| 4725 Cholinergic synapse [PATH:hsa04725] |
| 4720 Long-term potentiation [PATH:hsa04720] |
| 4723 Retrograde endocannabinoid signaling [PATH:hsa04723] |
| 4750 Inflammatory mediator regulation of TRP channels [PATH:hsa04750] |
| 4713 Circadian entrainment [PATH:hsa04713] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5032 Morphine addiction [PATH:hsa05032] |
| 5414 Dilated cardiomyopathy (DCM) [PATH:hsa05414] |
| 5166 HTLV-I infection [PATH:hsa05166] |
| 5146 Amoebiasis [PATH:hsa05146] |
| 5142 Chagas disease (American trypanosomiasis) [PATH:hsa05142] |
| 名称 |
|---|
| Activation of GABAB receptors |
| Activation of NMDA receptor upon glutamate binding and postsynaptic events |
| Adenylate cyclase activating pathway |
| Adenylate cyclase inhibitory pathway |
| Aquaporin-mediated transport |
| Ca-dependent events |
| Calmodulin induced events |
| CaM pathway |
| CREB phosphorylation through the activation of Adenylate Cyclase |
| 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 (i) signalling events |
| G alpha (s) signalling events |
| G alpha (z) signalling events |
| G-protein mediated events |
| GABA B receptor activation |
| GABA receptor activation |
| Glucagon signaling in metabolic regulation |
| GPCR downstream signaling |
| Hedgehog 'off' state |
| Immune System |
| Inhibition of adenylate cyclase pathway |
| Innate Immune System |
| Integration of energy metabolism |
| Metabolism |
| Neuronal System |
| Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell |
| NGF signalling via TRKA from the plasma membrane |
| Opioid Signalling |
| Phospholipase C-mediated cascade; FGFR2 |
| Phospholipase C-mediated cascade; FGFR3 |
| Phospholipase C-mediated cascade; FGFR4 |
| Phospholipase C-mediated cascade: FGFR1 |
| PKA activation |
| PKA activation in glucagon signalling |
| PKA-mediated phosphorylation of CREB |
| PLC beta mediated events |
| PLC-gamma1 signalling |
| PLCG1 events in ERBB2 signaling |
| Post NMDA receptor activation events |
| Signal Transduction |
| 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 Hedgehog |
| Signaling by PDGF |
| Signalling by NGF |
| Transmembrane transport of small molecules |
| Transmission across Chemical Synapses |
| Vasopressin regulates renal water homeostasis via Aquaporins |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Hyperactive behavior | 0.12 | 1 | 0 | CTD_human |
| Substance Withdrawal Syndrome | 0.12 | 1 | 0 | CTD_human |
| DEAFNESS, AUTOSOMAL RECESSIVE 44 | 0.12 | 0 | 1 | CLINVAR |
| Small cell carcinoma of lung | 0.12 | 1 | 0 | CTD_human |
| Weight Gain | 0.002367032 | 1 | 0 | GAD |
| Weight Gain Adverse Event | 0.002367032 | 1 | 0 | GAD |
| Mood Disorders | 0.000271442 | 1 | 0 | BeFree |
| Hyperthyroidism | 0.000271442 | 1 | 0 | BeFree |
| Alcoholic Intoxication, Chronic | 0.000271442 | 1 | 0 | BeFree |
| Depressive disorder | 0.000271442 | 1 | 0 | BeFree |
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