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FLASH GENE
Symbol ADCYAP1R1 contributors: mct - updated : 06-01-2021
HGNC name adenylate cyclase activating polypeptide 1 (pituitary) receptor type I
HGNC id 242
DNA
TYPE functioning gene
SPECIAL FEATURE arranged in tandem
STRUCTURE 59.17 kb     16 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - - - 525 - 2018 28926110
- splicing - - - - 2018 28926110
cytoplasmic insertion between TM5 and TM6, activating adenylate cyclase and phospholipase C
- - - - - - 2018 28926110
cytoplasmic insertion between TM5 and TM6, activating adenylate cyclase and phospholipase C
- splicing - - - - 2018 28926110
cytoplasmic insertion between TM5 and TM6, activating adenylate cyclase and phospholipase C
- splicing - - - - 2018 28926110
cytoplasmic insertion between TM5 and TM6, activating phospholipase C
- - - - - - 2018 28926110
cytoplasmic insertion between TM5 and TM6, activating phospholipase C
17 - 6723 - 496 - 2018 28926110
17 - 6720 - 495 - 2018 28926110
16 - 6639 - 468 - 2018 28926110
14 - 6576 - 447 - 2018 28926110
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineneuroendocrinepituitary   
Nervousbraindiencephalonamygdala highly Homo sapiens
 nerve    
Respiratoryrespiratory tracttrachea   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularexocrine 
Lymphoid    
cells
SystemCellPubmedSpeciesStageRna symbol
Endocrineislet cell (alpha,beta...)
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • seven transmembrane segments (7TM) receptor
  • with an insertion between TM5 and TM6 in variants
  • HOMOLOGY
    interspecies homolog to murine Adcyap1r1
    Homologene
    FAMILY secretin family,coupling with Gs alpha protein and activating adenylate cyclase
    CATEGORY enzyme , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • involved in the physiological control of insulin release
  • four spliced variants activating phospholipase C and one, the variant (PACAPR-TM4), activating L-type Ca++ channels
  • has neurodevelopmental functions in the human cerebellum
  • VIPR2 and/or ADCYAPR1 receptor activation is involved in cutaneous active vasodilation in humans
  • play a critical role in biological processes that mediate stress response and have been implicated in psychological outcome following trauma
  • importance of ADCYAP1R1 endosomal signaling as a key mechanism regulating cellular function
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with IGF1R (ADCYAP1R1 transactivation is essential for IGF1 receptor signaling and antiapoptotic activity in neurons)
  • action of GNRH1 in the regulation of gonadotropin subunit expression is enhanced by the presence of ADCYAP1R1
  • ADCYAP1/ADCYAP1R1 internalization and recruitment of endosomal signaling regulate cardiac neuron excitability
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in macrophages is a common mechanism in response to acute and chronic pro-inflammatory stimuli
    Susceptibility
  • to Cluster Headache (CH)
  • to Posttraumatic stress disorder (PTSD)
  • to severity of social deficits and functional amygdala connectivity in autism spectrum disorder
  • Variant & Polymorphism
  • association of CH with a common variant of the PACAP receptor gene (ADCYAP1R1)
  • sex-dependent association between ADCYAP1R1 and Posttraumatic stress disorder (PTSD)
  • ADCYAP1R1 genotype is linked to severity of social deficits and functional amygdala connectivity in ASD
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS