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FLASH GENE
Symbol ADRB1 contributors: mct - updated : 15-09-2016
HGNC name adrenergic, beta-1-, receptor
HGNC id 285
Location 10q25.3      Physical location : 115.803.805 - 115.806.665
Synonym name beta-1 adrenoreceptor
Synonym symbol(s) ADRB1R, B1AR, BETA1AR, RHR
DNA
TYPE functioning gene
STRUCTURE 2.86 kb     1 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
1 - 2862 51.1 477 - -
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Nervousbrainforebraincerebral cortex moderately
Urinarykidneytubulecollecting duct   Homo sapiens
 kidneytubuleconvoluted tubule   Homo sapiens
Visualeyeretina    Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
cells
SystemCellPubmedSpeciesStageRna symbol
Cardiovascularendothelial cell Homo sapiens
Muscularmyocyte
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
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