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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
    mouse all
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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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