ADCY5 (adenylate cyclase 5)
- symbol:
- ADCY5
- locus group:
- protein-coding gene
- location:
- 3q21.1
- gene_family:
- Adenylate cyclases
- alias symbol:
- AC5
- alias name:
- None
- entrez id:
- 111
- ensembl gene id:
- ENSG00000173175
- ucsc gene id:
- uc003egh.3
- refseq accession:
- NM_183357
- hgnc_id:
- HGNC:236
- approved reserved:
- 1994-07-22
ADCY5（腺苷酸环化酶5）属于腺苷酸环化酶（AC）基因家族，该家族共有9个成员（ADCY1-9），它们共同负责催化ATP生成第二信使环磷酸腺苷（cAMP），在G蛋白偶联受体信号转导中起核心作用。ADCY5主要在脑部（尤其是纹状体）、心脏和骨骼肌中高表达，其产物通过调节cAMP水平影响多巴胺能神经传递、心肌收缩和糖代谢等生理过程。该基因的显著特点是受钙调蛋白（CaM）和Gαs/olf蛋白双重激活，并能被Gαi蛋白抑制，这种复杂调控使其成为神经和代谢调控的关键节点。ADCY5功能突变可导致多种疾病：显性突变（如p.R418W、p.R418Q）引发ADCY5相关运动障碍（OMIM#606703），表现为儿童期起病的阵发性肌张力障碍、舞蹈样动作和面部扭曲，机制可能与突变导致酶活性异常升高有关；而某些错义突变（如p.A726T）则与家族性肥胖和2型糖尿病相关。在帕金森病患者中，纹状体ADCY5表达下调会加剧多巴胺信号传导障碍。过表达ADCY5会异常激活PKA/CREB通路，导致神经元过度兴奋和运动控制异常，同时促进脂肪细胞分化引发肥胖；反之表达降低则损害突触可塑性，加速神经退行性病变，并引起胰岛素抵抗。该基因与ADCY1/8共同构成钙敏感亚家族，其成员均含有两个串联的催化结构域和特有的CaM结合域，但ADCY5独特的组织分布和调控特性使其成为治疗运动障碍和代谢疾病的潜在靶点，目前已有针对其变构调节位点的小分子抑制剂进入临床前研究。
This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
该基因编码膜结合的腺苷酸环化酶的酶的成员。腺苷酸环化酶介导的G蛋白偶联受体信号通过第二信使cAMP的合成。所编码的蛋白质的活性的G蛋白偶联受体的GSα亚基刺激，并通过蛋白激酶A，钙和Gi的α亚基抑制。在这种基因的单核苷酸多态性可能与低出生体重和2型糖尿病有关。编码不同同种型的可变剪接转录物变体已经观察到这种基因。 [由RefSeq的，2010年12月提供]
正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
CCCACCTGAATTTGCTTGTC
60
GAAAGCCTGTCTCTGGGAG
60
TCTACACCATCTACACGCTG
59
ACATTGGAGACAAGCTGCT
60
AAGTCTCAGAAAGAGGGCTG
60
ACATTGGAGACAAGCCTCC
60
ACTCAGTTGGAGCTTGTCTC
60
GAAAGCCTGTCTCTGGGAG
60
GATTTGGTGCCTATGTGGC
59
CTGAGCATGAATATGGAGTGG
59
CACAGGAGCACAACATCAG
58
ACGCTGTAGGTGAAGTACTC
59
TTGGAGGTAAGCTTGTCTCC
60
CTCCTGGAAAGCCTGTCTC
60
CTGTTTGCTGACATCGAGG
59
TAAACAGTGATTCTCTGCGG
58
TAGAGAAGAAGTACTCCAAGCA
58
AGATGAAGAGGAAGACGAGC
59
AGCCTCAGTACGACATCTG
59
ACATGTCTGTGGTGACCTG
60
基因本体信息
ADCY5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
ADCY5基因的本体（GO）信息：
GO库代码
对应的蛋白质
来源代码
GO:0000166
B3KWA8 (UniProtKB)
IEA
GO:0004016
B3KWA8 (UniProtKB)
IEA
GO:0005622
B3KWA8 (UniProtKB)
IEA
GO:0005886
B3KWA8 (UniProtKB)
IEA
GO:0006171
B3KWA8 (UniProtKB)
IEA
GO:0016021
B3KWA8 (UniProtKB)
IEA
GO:0035556
B3KWA8 (UniProtKB)
IEA
GO:0005622
C9JQ38 (UniProtKB)
IEA
GO:0009190
C9JQ38 (UniProtKB)
IEA
GO:0016849
C9JQ38 (UniProtKB)
IEA
GO:0035556
C9JQ38 (UniProtKB)
IEA
GO:0000166
C9JRT8 (UniProtKB)
IEA
GO:0004016
C9JRT8 (UniProtKB)
IEA
GO:0005622
C9JRT8 (UniProtKB)
IEA
GO:0005886
C9JRT8 (UniProtKB)
IEA
GO:0006171
C9JRT8 (UniProtKB)
IEA
GO:0016021
C9JRT8 (UniProtKB)
IEA
GO:0035556
C9JRT8 (UniProtKB)
IEA
GO:0001973
O95622 (UniProtKB)
IEA
GO:0003091
O95622 (UniProtKB)
TAS
GO:0004016
O95622 (UniProtKB)
IDA
GO:0004016
O95622 (UniProtKB)
IDA
GO:0004016
O95622 (UniProtKB)
IMP
GO:0005524
O95622 (UniProtKB)
IEA
GO:0005622
O95622 (UniProtKB)
IEA
GO:0005622
O95622 (UniProtKB)
IEA
GO:0005886
O95622 (UniProtKB)
ISS
GO:0005886
O95622 (UniProtKB)
IBA
GO:0005886
O95622 (UniProtKB)
TAS
GO:0005886
O95622 (UniProtKB)
TAS
GO:0005886
O95622 (UniProtKB)
TAS
GO:0005886
O95622 (UniProtKB)
TAS
GO:0005886
O95622 (UniProtKB)
TAS
GO:0005886
O95622 (UniProtKB)
TAS
GO:0005886
O95622 (UniProtKB)
TAS
GO:0005886
O95622 (UniProtKB)
TAS
GO:0005886
O95622 (UniProtKB)
TAS
GO:0005886
O95622 (UniProtKB)
TAS
GO:0005886
O95622 (UniProtKB)
TAS
GO:0005886
O95622 (UniProtKB)
TAS
GO:0006171
O95622 (UniProtKB)
IDA
GO:0006171
O95622 (UniProtKB)
IDA
GO:0006171
O95622 (UniProtKB)
IMP
GO:0007189
O95622 (UniProtKB)
IMP
GO:0007189
O95622 (UniProtKB)
TAS
GO:0007190
O95622 (UniProtKB)
TAS
GO:0007191
O95622 (UniProtKB)
IEA
GO:0007193
O95622 (UniProtKB)
IBA
GO:0007193
O95622 (UniProtKB)
TAS
GO:0007195
O95622 (UniProtKB)
IEA
GO:0007204
O95622 (UniProtKB)
IMP
GO:0007626
O95622 (UniProtKB)
IEA
GO:0008179
O95622 (UniProtKB)
ISS
GO:0016021
O95622 (UniProtKB)
IDA
GO:0019933
O95622 (UniProtKB)
IBA
GO:0034199
O95622 (UniProtKB)
TAS
GO:0046872
O95622 (UniProtKB)
IEA
GO:0046982
O95622 (UniProtKB)
ISS
GO:0050885
O95622 (UniProtKB)
IEA
GO:0061178
O95622 (UniProtKB)
IMP
GO:0071377
O95622 (UniProtKB)
TAS
GO:0072372
O95622 (UniProtKB)
ISS
GO:1904322
O95622 (UniProtKB)
IDA
GO:1904322
O95622 (UniProtKB)
IDA
| 名称 |
|---|
| 230 Purine metabolism [PATH:hsa00230] |
| 4015 Rap1 signaling pathway [PATH:hsa04015] |
| 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] |
| 4728 Dopaminergic synapse [PATH:hsa04728] |
| 4726 Serotonergic synapse [PATH:hsa04726] |
| 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] |
| 5012 Parkinson's disease [PATH:hsa05012] |
| 5030 Cocaine addiction [PATH:hsa05030] |
| 5031 Amphetamine addiction [PATH:hsa05031] |
| 5032 Morphine addiction [PATH:hsa05032] |
| 5034 Alcoholism [PATH:hsa05034] |
| 5414 Dilated cardiomyopathy (DCM) [PATH:hsa05414] |
| 5166 HTLV-I infection [PATH:hsa05166] |
| 名称 |
|---|
| Activation of GABAB receptors |
| Adenylate cyclase activating pathway |
| Adenylate cyclase inhibitory pathway |
| Adrenaline,noradrenaline inhibits insulin secretion |
| Aquaporin-mediated transport |
| Ca-dependent events |
| Calmodulin induced events |
| CaM pathway |
| 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 |
| Glucagon-like Peptide-1 (GLP1) regulates insulin secretion |
| 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 |
| Regulation of insulin secretion |
| 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 |
| Dyskinesia, Familial, with Facial Myokymia | 0.36 | 1 | 5 | CLINVAR_ORPHANET_UNIPROT |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.249815515 | 14 | 2 | BeFree_CTD_human_GAD_GWASCAT |
| Benign Hereditary Chorea | 0.120271442 | 1 | 0 | BeFree_ORPHANET |
| Ventricular Dysfunction, Left | 0.12 | 1 | 0 | CTD_human |
| Hypertensive disease | 0.12 | 1 | 0 | CTD_human |
| Osteoporosis | 0.12 | 1 | 0 | CTD_human |
| Cardiomyopathies | 0.12 | 2 | 0 | CTD_human |
| Fibrosis | 0.12 | 1 | 0 | CTD_human |
| Mammary Neoplasms, Experimental | 0.12 | 1 | 0 | CTD_human |
| Birth Weight | 0.12 | 1 | 0 | CTD_human |
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