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ADCYAP1R1 ADCYAP receptor type I [ Homo sapiens (human) ]

Gene ID: 117, updated on 3-Apr-2024

Summary

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Official Symbol
ADCYAP1R1provided by HGNC
Official Full Name
ADCYAP receptor type Iprovided by HGNC
Primary source
HGNC:HGNC:242
See related
Ensembl:ENSG00000078549 MIM:102981; AllianceGenome:HGNC:242
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PAC1; PAC1R; PACAPR; PACAPRI
Summary
This gene encodes type I adenylate cyclase activating polypeptide receptor, which is a membrane-associated protein and shares significant homology with members of the glucagon/secretin receptor family. This receptor mediates diverse biological actions of adenylate cyclase activating polypeptide 1 and is positively coupled to adenylate cyclase. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Dec 2010]
Expression
Biased expression in brain (RPKM 39.8), adrenal (RPKM 5.5) and 1 other tissue See more
Orthologs
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Genomic context

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Location:
7p14.3
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (31052308..31111474)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (31189955..31249113)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (31091923..31151088)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr7:31014486-31014664 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18074 Neighboring gene uncharacterized LOC105375222 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:31024083-31024608 Neighboring gene growth hormone releasing hormone receptor Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:31029507-31030287 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:31032726-31033925 Neighboring gene uncharacterized LOC105375221 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:31066433-31067036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:31067037-31067640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:31082296-31082796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:31082797-31083297 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:31109473-31109974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:31117973-31118706 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:31141510-31142010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:31145675-31146470 Neighboring gene small integral membrane protein 14-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18075 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18076 Neighboring gene uncharacterized LOC107986781

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Impact of ADCYAP1R1 genotype on longitudinal fear conditioning in children: interaction with trauma and sex. Jovanovic T, et al. Neuropsychopharmacology, 2020 Sep. PMID 32590837, Free PMC Article
  2. Cryo-EM structure of the human PAC1 receptor coupled to an engineered heterotrimeric G protein. Kobayashi K, et al. Nat Struct Mol Biol, 2020 Mar. PMID 32157248
  3. Cryo-EM structures of PAC1 receptor reveal ligand binding mechanism. Wang J, et al. Cell Res, 2020 May. PMID 32047270, Free PMC Article
  4. Circulating PACAP peptide and PAC1R genotype as possible transdiagnostic biomarkers for anxiety disorders in women: a preliminary study. Ross RA, et al. Neuropsychopharmacology, 2020 Jun. PMID 31910434, Free PMC Article
  5. PAC1R Genotype to Phenotype Correlations in Autism Spectrum Disorder. Goodrich M, et al. Autism Res, 2019 Feb. PMID 30556326, Free PMC Article

See all (95) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Pituitary Adenylate Cyclase-Activating Polypeptide (PACAP) and Sudden Infant Death Syndrome: A Potential Model for Investigation.
    Title: Pituitary Adenylate Cyclase-Activating Polypeptide (PACAP) and Sudden Infant Death Syndrome: A Potential Model for Investigation.
  2. Calcitonin/PAC1 receptor splice variants: a blind spot in migraine research.
    Title: Calcitonin/PAC(1) receptor splice variants: a blind spot in migraine research.
  3. Distribution of PACAP and PAC1 Receptor in the Human Eye.
    Title: Distribution of PACAP and PAC1 Receptor in the Human Eye.
  4. PAC1, VPAC1, and VPAC2 Receptor Expression in Rat and Human Trigeminal Ganglia: Characterization of PACAP-Responsive Receptor Antibodies.
    Title: PAC(1), VPAC(1), and VPAC(2) Receptor Expression in Rat and Human Trigeminal Ganglia: Characterization of PACAP-Responsive Receptor Antibodies.
  5. PACAP-38 and PAC1 Receptor Alterations in Plasma and Cardiac Tissue Samples of Heart Failure Patients.
    Title: PACAP-38 and PAC1 Receptor Alterations in Plasma and Cardiac Tissue Samples of Heart Failure Patients.
  6. The G Protein-Coupled Receptor PAC1 Regulates Transactivation of the Receptor Tyrosine Kinase HER3.
    Title: The G Protein-Coupled Receptor PAC1 Regulates Transactivation of the Receptor Tyrosine Kinase HER3.
  7. GIP receptor suppresses PAC1receptor-mediated neuronal differentiation via formation of a receptor heterocomplex.
    Title: GIP receptor suppresses PAC1receptor-mediated neuronal differentiation via formation of a receptor heterocomplex.
  8. Cryo-EM structures of PAC1 receptor reveal ligand binding mechanism.
    Title: Cryo-EM structures of PAC1 receptor reveal ligand binding mechanism.
  9. Impact of ADCYAP1R1 genotype on longitudinal fear conditioning in children: interaction with trauma and sex.
    Title: Impact of ADCYAP1R1 genotype on longitudinal fear conditioning in children: interaction with trauma and sex.
  10. Circulating PACAP peptide and PAC1R genotype as possible transdiagnostic biomarkers for anxiety disorders in women: a preliminary study.
    Title: Circulating PACAP peptide and PAC1R genotype as possible transdiagnostic biomarkers for anxiety disorders in women: a preliminary study.
Submit: New GeneRIF Correction See all GeneRIFs (65)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial.
EBI GWAS Catalog
Genome-wide association analysis of gender differences in major depressive disorder in the Netherlands NESDA and NTR population-based samples.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein-coupled peptide receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables adenylate cyclase binding IEA
Inferred from Electronic Annotation
more info
  
enables neuropeptide binding IEA
Inferred from Electronic Annotation
more info
  
enables peptide hormone binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables signaling receptor activity TAS
Traceable Author Statement
more info
 PubMed 
enables small GTPase binding IEA
Inferred from Electronic Annotation
more info
  
enables vasoactive intestinal polypeptide receptor activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cAMP-mediated signaling IEA
Inferred from Electronic Annotation
more info
  
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in cell surface receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in development of primary female sexual characteristics IEA
Inferred from Electronic Annotation
more info
  
involved_in multicellular organismal response to stress IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of response to reactive oxygen species IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of cAMP-mediated signaling IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of calcium ion transport into cytosol IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of inositol phosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in response to estradiol IEA
Inferred from Electronic Annotation
more info
  
involved_in response to ethanol IEA
Inferred from Electronic Annotation
more info
  
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in bicellular tight junction IEA
Inferred from Electronic Annotation
more info
  
located_in caveola IEA
Inferred from Electronic Annotation
more info
  
located_in cell surface IEA
Inferred from Electronic Annotation
more info
  
located_in endosome IEA
Inferred from Electronic Annotation
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of receptor complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
pituitary adenylate cyclase-activating polypeptide type I receptor
Names
PACAP receptor 1
PACAP type I receptor
PACAP-R1
adenylate cyclase activating polypeptide 1 (pituitary) receptor type I
pituitary adenylate cyclase activating polypeptide 1 receptor type I Hiphop
pituitary adenylate cyclase-activating polypeptide type 1 receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029869.2 RefSeqGene

    Range
    5002..64168
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001118.5 → NP_001109.2  pituitary adenylate cyclase-activating polypeptide type I receptor isoform 3 precursor

    See identical proteins and their annotated locations for NP_001109.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the CDS, as compared to variant 1. The resulting isoform (3) lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    AC006466, AK290046, CA432770, DA809763
    Consensus CDS
    CCDS5433.1
    UniProtKB/Swiss-Prot
    A8K1Y1, B7ZLA7, B8ZZK3, P41586, Q17S10
    UniProtKB/TrEMBL
    A0A090N8F8, E9PFU5
    Related
    ENSP00000306620.4, ENST00000304166.9
    Conserved Domains (2) summary
    pfam02793
    Location:52 → 137
    HRM; Hormone receptor domain
    cd15987
    Location:150 → 417
    7tmB1_PACAP-R1; pituitary adenylate cyclase-activating polypeptide type 1 receptor, member of the class B family of seven-transmembrane G protein-coupled receptors

  2. NM_001199635.2 → NP_001186564.1  pituitary adenylate cyclase-activating polypeptide type I receptor isoform 1 precursor

    See identical proteins and their annotated locations for NP_001186564.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC006466, BC136267, CA432770, DA809763
    Consensus CDS
    CCDS56480.1
    UniProtKB/TrEMBL
    E9PFU5
    Related
    ENSP00000379514.2, ENST00000396211.7
    Conserved Domains (2) summary
    pfam02793
    Location:52 → 137
    HRM; Hormone receptor domain
    cd15987
    Location:150 → 445
    7tmB1_PACAP-R1; pituitary adenylate cyclase-activating polypeptide type 1 receptor, member of the class B family of seven-transmembrane G protein-coupled receptors

  3. NM_001199636.2 → NP_001186565.1  pituitary adenylate cyclase-activating polypeptide type I receptor isoform 2 precursor

    See identical proteins and their annotated locations for NP_001186565.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate splice site in the CDS, as compared to variant 1. The resulting isoform (2) lacks an internal aa, compared to isoform 1.
    Source sequence(s)
    AC006466, BC143679, CA432770, DA809763
    Consensus CDS
    CCDS94076.1
    UniProtKB/TrEMBL
    A0A994J7E9, E9PFU5
    Related
    ENSP00000516124.1, ENST00000705423.1
    Conserved Domains (2) summary
    pfam00002
    Location:150 → 423
    7tm_2; 7 transmembrane receptor (Secretin family)
    pfam02793
    Location:52 → 137
    HRM; Hormone receptor domain

  4. NM_001199637.2 → NP_001186566.1  pituitary adenylate cyclase-activating polypeptide type I receptor isoform 4 precursor

    See identical proteins and their annotated locations for NP_001186566.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two consecutive exons in the upstream region and one exon in the downstream region in the CDS, as compared to variant 1. The resulting isoform (3) lacks two internal segments, as compared to isoform 1.
    Source sequence(s)
    AC006466, AK226138, CA432770, DA809763
    Consensus CDS
    CCDS56481.1
    UniProtKB/TrEMBL
    E9PFU5
    Related
    ENSP00000387335.1, ENST00000409363.5
    Conserved Domains (2) summary
    cd15987
    Location:129 → 396
    7tmB1_PACAP-R1; pituitary adenylate cyclase-activating polypeptide type 1 receptor, member of the class B family of seven-transmembrane G protein-coupled receptors
    pfam02793
    Location:52 → 116
    HRM; Hormone receptor domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    31052308..31111474
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715645.4 → XP_006715708.1  pituitary adenylate cyclase-activating polypeptide type I receptor isoform X1

    See identical proteins and their annotated locations for XP_006715708.1

    UniProtKB/TrEMBL
    E9PFU5
    Conserved Domains (2) summary
    pfam00002
    Location:150 → 424
    7tm_2; 7 transmembrane receptor (Secretin family)
    pfam02793
    Location:52 → 137
    HRM; Hormone receptor domain

  2. XM_017011736.3 → XP_016867225.1  pituitary adenylate cyclase-activating polypeptide type I receptor isoform X2

    UniProtKB/TrEMBL
    E9PFU5
    Conserved Domains (2) summary
    pfam00002
    Location:143 → 417
    7tm_2; 7 transmembrane receptor (Secretin family)
    pfam02793
    Location:52 → 130
    HRM; Hormone receptor domain

  3. XM_047419879.1 → XP_047275835.1  pituitary adenylate cyclase-activating polypeptide type I receptor isoform X4

  4. XM_017011737.3 → XP_016867226.1  pituitary adenylate cyclase-activating polypeptide type I receptor isoform X3

    UniProtKB/TrEMBL
    E9PFU5
    Conserved Domains (2) summary
    cd15987
    Location:129 → 424
    7tmB1_PACAP-R1; pituitary adenylate cyclase-activating polypeptide type 1 receptor, member of the class B family of seven-transmembrane G protein-coupled receptors
    pfam02793
    Location:52 → 116
    HRM; Hormone receptor domain

  5. XM_017011738.3 → XP_016867227.1  pituitary adenylate cyclase-activating polypeptide type I receptor isoform X5

    UniProtKB/TrEMBL
    E9PFU5

  6. XM_005249618.6 → XP_005249675.1  pituitary adenylate cyclase-activating polypeptide type I receptor isoform X6

    UniProtKB/Swiss-Prot
    P41586
    Conserved Domains (2) summary
    pfam00002
    Location:93 → 339
    7tm_2; 7 transmembrane receptor (Secretin family)
    pfam02793
    Location:46 → 80
    HRM; Hormone receptor domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    31189955..31249113
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054357220.1 → XP_054213195.1  pituitary adenylate cyclase-activating polypeptide type I receptor isoform X1

  2. XM_054357221.1 → XP_054213196.1  pituitary adenylate cyclase-activating polypeptide type I receptor isoform X2

  3. XM_054357223.1 → XP_054213198.1  pituitary adenylate cyclase-activating polypeptide type I receptor isoform X4

  4. XM_054357222.1 → XP_054213197.1  pituitary adenylate cyclase-activating polypeptide type I receptor isoform X3

  5. XM_054357224.1 → XP_054213199.1  pituitary adenylate cyclase-activating polypeptide type I receptor isoform X5

  6. XM_054357225.1 → XP_054213200.1  pituitary adenylate cyclase-activating polypeptide type I receptor isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P41586.1 GenPept UniProtKB/Swiss-Prot:P41586

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