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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ADCYAP1R1
ADCYAP receptor type I
Chromosome 7 · 7p14.3
NCBI Gene: 117Ensembl: ENSG00000078549.16HGNC: HGNC:242UniProt: A0A090N8F8
101PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
adenylate cyclase-activating G protein-coupled receptor signaling pathwayprotein bindingpituitary adenylate cyclase-activating polypeptide receptor activityplasma membraneneurodegenerative diseasespinal cord injurysubarachnoid hemorrhagegastric ulcer
✦AI Summary

ADCYAP1R1 encodes a G protein-coupled receptor (PAC1) that binds the neuropeptide pituitary adenylate cyclase-activating polypeptide (PACAP), recognizing both PACAP27 and PACAP38 variants 12. Ligand binding triggers conformational changes that activate cAMP-dependent signaling pathways through G protein coupling 13. The receptor regulates multiple neuroendocrine functions, including release of adrenocorticotropin, growth hormone, and catecholamines, and modulates smooth muscle relaxation in the gastrointestinal tract 13. In neurons, PAC1 signaling promotes dendritic spine density and mitochondrial content, supporting synaptic plasticity and energy homeostasis critical for cognitive function 4. Functionally, ADCYAP1R1 modulates emotional processing and stress responses 5. Genetic variants, particularly rs2267735, show significant associations with posttraumatic stress disorder (PTSD), particularly in women, with the C allele conferring increased risk 6. This variant also demonstrates gene-by-environment interactions, where CC genotype combined with high neighborhood crime or violence exposure predicts elevated major depression symptoms and fear-conditioned responses in trauma-exposed populations 78. Additionally, ADCYAP1R1 variants associate with childhood asthma, modulated by epigenetic methylation patterns and violence exposure 9. These findings identify PAC1 as a stress-system modulator relevant to neuropsychiatric and physical health outcomes.

Sources cited
1
ADCYAP1R1 is a GPCR activated by PACAP that binds PACAP27/38 and activates cAMP signaling
PMID: 32047270
2
Confirms PACAP binding to ADCYAP1R1 and cAMP pathway activation
PMID: 35477937
3
Supports cAMP activation and gastrointestinal smooth muscle effects
PMID: 33715378
4
PAC1 deletion impairs dendritic spine density, mitochondrial content, and spatial memory in excitatory neurons
PMID: 40628313
5
ADCYAP1R1 is a genetic modulator of emotion processing and individual differences in emotionality
PMID: 21835681
6
rs2267735 C allele associates with PTSD risk, particularly in women
PMID: 28746747
7
Gene-by-environment interaction between rs2267735 and neighborhood crime predicts depression in trauma-exposed women
PMID: 26334183
8
CC genotype increases fear-conditioned responses in children with high violence exposure, with stronger effects in females
PMID: 32590837
9
ADCYAP1R1 methylation and rs2267735 variant associate with childhood asthma in Puerto Rican children
PMID: 23328528
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.38Weak
spinal cord injuryOpen Targets
0.32Weak
subarachnoid hemorrhageOpen Targets
0.31Weak
gastric ulcerOpen Targets
0.11Weak
hemorrhageOpen Targets
0.11Weak
ovarian neoplasmOpen Targets
0.11Weak
post-traumatic stress disorderOpen Targets
0.10Weak
Female infertility due to fertilization defectOpen Targets
0.07Suggestive
male infertilityOpen Targets
0.07Suggestive
attention deficit hyperactivity disorderOpen Targets
0.06Suggestive
glomerulonephritisOpen Targets
0.06Suggestive
autoimmune thrombocytopenic purpuraOpen Targets
0.06Suggestive
oocyte maturation defect 14Open Targets
0.06Suggestive
oocyte maturation defect 5Open Targets
0.06Suggestive
female infertility due to oocyte meiotic arrestOpen Targets
0.06Suggestive
premature ovarian failure 19Open Targets
0.05Suggestive
invasive hydatidiform moleOpen Targets
0.05Suggestive
female infertility due to zona pellucida defectOpen Targets
0.05Suggestive
oocyte/zygote/embryo maturation arrest 18Open Targets
0.05Suggestive
Rare genetic female infertilityOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
VIPProtein interaction99%GCGProtein interaction98%GNG7Protein interaction96%GNASProtein interaction93%GHRHProtein interaction92%GNB1Protein interaction90%
Tissue Expression6 tissues
Brain
100%
Heart
28%
Ovary
9%
Liver
2%
Lung
2%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
ADCYAP1R1VIPGCGGNG7GNASGHRHGNB1
PROTEIN STRUCTURE
Preparing viewer…
PDB3N94 · 1.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.80LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.62 [0.48–0.80]
RankingsWhere ADCYAP1R1 stands among ~20K protein-coding genes
  • #4,704of 20,598
    Most Researched101 · top quartile
  • #6,611of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedADCYAP1R1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetics of emotion.
PMID: 21835681
Trends Cogn Sci · 2011
1.00
2
Association of Posttraumatic Stress Disorder With rs2267735 in the ADCYAP1R1 Gene: A Meta-Analysis.
PMID: 28746747
J Trauma Stress · 2017
0.90
3
Genetics of cluster headache.
PMID: 30917683
Cephalalgia · 2019
0.80
4
Gene-by-social-environment interaction (GxSE) between ADCYAP1R1 genotype and neighborhood crime predicts major depression symptoms in trauma-exposed women.
PMID: 26334183
J Affect Disord · 2015
0.70
5
Neuronal PAC1 deletion impairs structural plasticity.
PMID: 40628313
Life Sci · 2025
0.60