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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
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