ADCY1 Gene: Adenylate Cyclase 1 - Function, Disease Associations, and Expression
Comprehensive resource on ADCY1 (Adenylate Cyclase 1): genomic data, protein function, tissue expression, mutations, and related diseases.
Gene Information Card
| Symbol | ADCY1 |
|---|---|
| Full Name | Adenylate Cyclase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p12.3 |
| NCBI Gene ID | 107 ncbi.nlm.nih.gov/gene/107 |
| Ensembl ID | ENSG00000164742 |
| UniProt ID | Q08828 |
| OMIM ID | 603385 |
| HGNC ID | 232 |
| Aliases | AC1, DC1, mKIAA4090 |
Description
ADCY1 (Adenylate Cyclase 1) encodes a membrane-bound adenylate cyclase that catalyzes the conversion of ATP to cyclic AMP (cAMP) and pyrophosphate. This enzyme is stimulated by calcium/calmodulin and is predominantly expressed in the brain, where it plays a critical role in neuronal signaling, synaptic plasticity, learning, and memory. ADCY1 is also involved in pain sensation and circadian rhythm regulation. Mutations and altered expression of ADCY1 have been linked to various neurological and psychiatric disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bipolar disorder | Altered ADCY1 expression and cAMP signaling in brain regions may contribute to mood dysregulation. | Association studies and gene expression analyses (PMID: 20379614) |
| Schizophrenia | Reduced ADCY1 expression in prefrontal cortex may impair cAMP-dependent signaling pathways. | Post-mortem brain studies (PMID: 21926968) |
| Major depressive disorder | Dysregulation of cAMP signaling via ADCY1 may affect neuroplasticity and mood regulation. | Genetic association and expression studies (PMID: 22968125) |
| Chronic pain | ADCY1 is involved in central sensitization and pain transmission; inhibition reduces pain responses. | Animal model studies (PMID: 26631472) |
| Intellectual disability | Rare variants in ADCY1 have been identified in patients with intellectual disability, suggesting a role in cognitive function. | Case reports and cohort studies (PMID: 28135719) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 31.2 | High |
| Adrenal gland | 12.5 | Medium |
| Lung | 5.3 | Low |
| Heart | 2.1 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 45.6 | High expression; used for neuronal studies |
| U87-MG (glioblastoma) | 22.3 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 1.2 | Low expression |
| A549 (lung carcinoma) | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1753C>T (p.Arg585Trp) | Missense | Rare (MAF <0.01%) | Potential loss of function; associated with intellectual disability |
| c.2860G>A (p.Val954Met) | Missense | Rare | Uncertain significance; possibly affects enzyme activity |
| c.1234del (p.Leu412fs) | Frameshift | Very rare | Likely loss of function; may cause disease |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in ADCY1 reduce cAMP production, impairing neuronal signaling and potentially leading to intellectual disability and altered pain sensitivity.
Gain of Function (GOF)
Gain-of-function mutations are rare; increased ADCY1 activity could lead to excessive cAMP signaling, possibly contributing to neuropsychiatric disorders.
Dominant Negative (DN)
Dominant-negative effects have not been clearly established for ADCY1; however, some missense mutations may interfere with dimerization or catalytic activity.
View complete mutation data：
Gene Ontology (GO)
| • adenylate cyclase activity | • ATP binding |
| • calmodulin binding | • metal ion binding |
| • cAMP biosynthetic process | • response to calcium ion |
| • G protein-coupled receptor signaling pathway | • adenylate cyclase-activating G protein-coupled receptor signaling pathway |
| • neuron projection development | • synaptic transmission |
Pathways
• cAMP signaling pathway
• Calcium signaling pathway
• G alpha (s) signaling events
• G alpha (q) signaling events
• Olfactory transduction
• Neuroactive ligand-receptor interaction
Protein Summary
ADCY1 is a transmembrane protein with 12 transmembrane domains, two cytoplasmic catalytic domains (C1 and C2), and a calmodulin-binding domain. It is activated by calcium/calmodulin and by G protein-coupled receptors via Gs alpha. The protein forms homodimers and catalyzes the formation of cAMP, a key second messenger. ADCY1 is highly expressed in the brain, particularly in the hippocampus, cortex, and cerebellum, where it regulates synaptic plasticity and memory formation. It also plays roles in pain modulation and circadian rhythm.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADCY1 Knockout HEK293 Cell Line | EDJ-KQ1292 | Human | 107 | Details Get a Quote |
| ADCY10 Knockout HEK293 Cell Line | EDC07938 | Human | 55811 | Details Get a Quote |
| ADCY1 Knockout A-549 Cell Line | EDJ-KQ20699 | Human | 107 | Details Get a Quote |
| ADCY1 Knockout HeLa Cell Line | EDJ-KQ52549 | Human | 107 | Details Get a Quote |
| ADCY10 Knockout HeLa Cell Line | EDJ-KQ56636 | Human | 55811 | Details Get a Quote |
| ADCY10 Knockout A-549 Cell Line | EDJ-KQ65142 | Human | 55811 | Details Get a Quote |
| ADCY1 Knockout HCT 116 Cell Line | EDJ-KQ69507 | Human | 107 | Details Get a Quote |
| ADCY10 Knockout HCT 116 Cell Line | EDJ-KQ73579 | Human | 55811 | Details Get a Quote |
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