ADCYAP1R1 Gene: Pituitary Adenylate Cyclase-Activating Polypeptide Type I Receptor
A key G-protein coupled receptor involved in neuroendocrine signaling, stress response, and psychiatric disorders.
Gene Information Card
| Symbol | ADCYAP1R1 |
|---|---|
| Full Name | Adenylate Cyclase Activating Polypeptide 1 (Pituitary) Receptor Type I |
| Gene Type | protein-coding |
| Chromosomal Location | 7p14.3 |
| NCBI Gene ID | 117 ncbi.nlm.nih.gov/gene/117 |
| Ensembl ID | ENSG00000106686 |
| UniProt ID | P41586 |
| OMIM ID | 102981 |
| HGNC ID | 242 |
| Aliases | PAC1, PACAPR, PACAPRI, PAC1R |
Description
ADCYAP1R1 encodes the PAC1 receptor, a G-protein coupled receptor for pituitary adenylate cyclase-activating polypeptide (PACAP). It is highly expressed in the brain, adrenal glands, and pancreas, mediating neuroendocrine signaling, stress responses, and neuroprotection. Variants in this gene are associated with post-traumatic stress disorder (PTSD), migraine, and psychiatric conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Post-Traumatic Stress Disorder (PTSD) | Altered receptor expression and signaling in stress pathways; SNP rs2267735 associated with PTSD risk in females | ClinVar, OMIM |
| Migraine (with aura) | PACAP/PAC1 receptor signaling implicated in trigeminovascular activation; genetic association studies | OMIM, NCBI |
| Major Depressive Disorder | Dysregulation of PACAP-PAC1 axis in hypothalamic-pituitary-adrenal (HPA) axis | OMIM |
| Panic Disorder | Increased PAC1 receptor binding in brain regions involved in fear and anxiety | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Adrenal gland | 8.3 | Low |
| Pancreas | 6.1 | Low |
| Pituitary gland | 15.2 | Medium |
| Testis | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.2 | Neuronal model |
| HEK293 (embryonic kidney) | 2.1 | Low endogenous expression |
| U-87 MG (glioblastoma) | 7.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2267735 | SNP (intronic) | 0.15 (global) | Associated with PTSD risk in females; may alter transcription factor binding |
| c.1234G>A | Missense (p.Val412Met) | <0.01 | Unknown functional effect; rare variant |
| c.789C>T | Synonymous (p.Pro263Pro) | 0.02 | No known effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC for ADCYAP1R1.
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)
| • G-protein coupled receptor activity | • adenylate cyclase-activating polypeptide receptor activity |
| • peptide hormone binding | • plasma membrane |
| • integral component of membrane | • G protein-coupled receptor signaling pathway |
| • adenylate cyclase-activating G protein-coupled receptor signaling pathway | • positive regulation of cAMP biosynthetic process |
| • nervous system development | • response to stress |
Pathways
• GPCR downstream signaling (cAMP/PKA)
• PACAP signaling pathway
• Neurotrophin signaling pathway
• cAMP signaling pathway
Protein Summary
The PAC1 receptor (UniProt P41586) is a 468-amino acid G-protein coupled receptor with seven transmembrane domains. It binds PACAP with high affinity and activates adenylate cyclase, increasing intracellular cAMP. It also couples to phospholipase C and MAPK pathways. The receptor is involved in neuroprotection, neurotransmitter release, and regulation of the HPA axis. Alternative splicing generates multiple isoforms with distinct signaling properties.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADCYAP1R1 Knockout HEK293 Cell Line | EDJ-KQ1769 | Human | 117 | Details Get a Quote |
| ADCYAP1R1 Knockout HeLa Cell Line | EDJ-KQ52554 | Human | 117 | Details Get a Quote |
| ADCYAP1R1 Knockout A-549 Cell Line | EDJ-KQ61036 | Human | 117 | Details Get a Quote |
| ADCYAP1R1 Knockout HCT 116 Cell Line | EDJ-KQ69512 | Human | 117 | Details Get a Quote |
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