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FLASH GENE
Symbol ADRB1 contributors: mct - updated : 15-09-2016
HGNC name adrenergic, beta-1-, receptor
HGNC id 285
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • seven transmembrane segments (7TM) receptor
  • the extreme C-terminus of ADRB1 binds DLG1 and AKAP5 to organize a scaffold involved in trafficking of the ADRB1
    • HOMOLOGY
    Homologene
    FAMILY
  • G protein coupled receptor superfamily
    • CATEGORY signaling , receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endosome
    text
  • localized with TRPV5 in DCT2/CNT
    • basic FUNCTION
  • activating adenylate cyclase and in other organs mediating the action of catecholamines and sympathetic nervous system
  • in cardiomyocytes, ADRB1 plays an important role in regulating cardiac functions
  • activation of ADRB1 stimulates active Ca(2+) reabsorption in late distal convoluted and connecting tubules (DCT2/CNT)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ADRBK1
  • trans-Golgi network (TGN) acts as a checkpoint for both the recycling and down-regulation of ADRB1 and that arrestin-3 not only mediates ADRB1 endocytosis but also its recycling through the TGN
  • recycles via a membranous organelle, recycling endosome, by binding with SNX27
  • significant role for the AKAP5 scaffold in signaling and trafficking of the ADRB1 in cardiac myocytes and mammalian cells
  • ADRB1 associates with PDE4D8 through the receptor C-terminal PDZ motif-dependent binding to synaptic-associated protein 97 (DLG1)
  • role for ADRB1 in the downregulation of PTGS2
  • GOPC colocalizes with SNX1 and the internalized ADRB1 and protects endocytosed receptors from lysosomal degradation
    • cell & other
    REGULATION
    Other is S-palmitoylated at a second, more distal site within the C-terminal tail
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    of 2 transcripts in heart failure
    constitutional     --over  
    in infantile hemangioma (IH) independent of the proliferative or regressive phase
    Susceptibility to takotsubo cardiomyopathy (TTC)
    Variant & Polymorphism
  • no apparent association of the C1165G variant with idiopathic cardiomyopathy
  • Arg389 predisposing to heart failure, in hypertrophic cardiomyopathy, allele Gly-Gly having protective effect
  • Arg389Gly influencing the pathophysiology of OAG in Japanese patients
  • association between TTC phenotype and beta1 adrenoreceptor gene polymorphisms
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS