ADCYAP1: Adenylate Cyclase Activating Polypeptide 1
Gene encoding the neuropeptide PACAP, involved in neuroendocrine signaling, neuroprotection, and metabolic regulation.
Gene Information Card
| Symbol | ADCYAP1 |
|---|---|
| Full Name | Adenylate Cyclase Activating Polypeptide 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 18p11.32 |
| NCBI Gene ID | 116 ncbi.nlm.nih.gov/gene/116 |
| Ensembl ID | ENSG00000141433 |
| UniProt ID | P18509 |
| OMIM ID | 102980 |
| HGNC ID | 241 |
| Aliases | PACAP, PACAP-38, PACAP-27 |
Description
ADCYAP1 (Adenylate Cyclase Activating Polypeptide 1) encodes the precursor protein for pituitary adenylate cyclase-activating polypeptide (PACAP), a neuropeptide that exists in two amidated forms (PACAP-38 and PACAP-27). PACAP binds to G-protein-coupled receptors (PAC1, VPAC1, VPAC2) and stimulates adenylate cyclase, leading to increased cAMP levels. It plays critical roles in neurodevelopment, neurotransmission, neuroprotection, pain modulation, and regulation of endocrine and metabolic functions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Migraine | PACAP is a potent vasodilator and nociceptor modulator; elevated plasma levels observed during migraine attacks. | ClinVar, OMIM |
| Post-traumatic stress disorder (PTSD) | Altered PACAP signaling via PAC1 receptor (ADCYAP1R1) is associated with fear conditioning and stress response. | NCBI Gene, OMIM |
| Schizophrenia | Genetic variants in ADCYAP1 may influence neurodevelopmental pathways and dopamine signaling. | OMIM, ClinVar |
| Obesity and metabolic syndrome | PACAP regulates insulin secretion and energy homeostasis; knockout mice show metabolic abnormalities. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.2 | Medium |
| Pancreas | 6.1 | Medium |
| Lung | 3.4 | Low |
| Heart | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression |
| HEK293 (embryonic kidney) | 0.8 | Low expression |
| HepG2 (liver) | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.164C>T (p.Pro55Leu) | Missense | <0.01% | Unknown; predicted benign by in silico tools |
| c.238G>A (p.Val80Met) | Missense | <0.01% | Unknown; no functional studies reported |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• GPCR downstream signaling (Reactome R-HSA-388396)
• cAMP signaling pathway (KEGG hsa04024)
• Neuroactive ligand-receptor interaction (KEGG hsa04080)
Protein Summary
The ADCYAP1 gene encodes a 176-amino acid precursor protein that is proteolytically processed to generate the mature PACAP-38 (38 aa) and PACAP-27 (27 aa) peptides. PACAP is highly conserved across species and acts as a neurotransmitter, neuromodulator, and trophic factor. It exerts its effects through three class B G-protein-coupled receptors: PAC1 (high affinity for PACAP), VPAC1, and VPAC2 (equal affinity for PACAP and VIP). PACAP signaling regulates cAMP/PKA, MAPK, and calcium pathways, influencing cell survival, differentiation, and secretion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADCYAP1 Knockout HEK293 Cell Line | EDJ-KQ1767 | Human | 116 | Details Get a Quote |
| ADCYAP1R1 Knockout HEK293 Cell Line | EDJ-KQ1769 | Human | 117 | Details Get a Quote |
| ADCYAP1 Knockout HeLa Cell Line | EDJ-KQ52553 | Human | 116 | Details Get a Quote |
| ADCYAP1R1 Knockout HeLa Cell Line | EDJ-KQ52554 | Human | 117 | Details Get a Quote |
| ADCYAP1 Knockout A-549 Cell Line | EDJ-KQ61035 | Human | 116 | Details Get a Quote |
| ADCYAP1R1 Knockout A-549 Cell Line | EDJ-KQ61036 | Human | 117 | Details Get a Quote |
| ADCYAP1 Knockout HCT 116 Cell Line | EDJ-KQ69511 | Human | 116 | Details Get a Quote |
| ADCYAP1R1 Knockout HCT 116 Cell Line | EDJ-KQ69512 | Human | 117 | Details Get a Quote |
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