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FLASH GENE
Symbol DRD1 contributors: mct - updated : 12-01-2015
HGNC name dopamine receptor D1
HGNC id 3020
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • seven transmembrane segments (7TM) receptor
  • a di-L motif at the C-terminus critical for the glycosylation and cell surface targeting of DRD1
    • HOMOLOGY
    Homologene
    FAMILY
  • G protein coupled receptor superfamily
    • CATEGORY receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • dopamine receptor D1,adenylate cyclase stimulating
  • involved in the control of vascular tone
  • specific role in spinal network activation and rhythmic movement induction
  • is critical for spatial learning
  • plays a critical role in regulating blood pressure through its actions on renal hemodynamics and epithelial ion transport, which are highly linked to its intracellular trafficking
  • concerted action of NPPA and DRD1 to regulate sodium homeostasis in nephrotic syndrome
  • facilitates relaxation in airway smooth muscle
  • DRD1 regulates the activity-dependent development of retinal light responsiveness
  • potential roles of DRD1 in the activity-dependent functional development of retina
  • dentate gyrus DRD1, but not DRD5, contribute to the formation of distinct contextual representations of novel environments
  • differential roles of DRD1 and DRD2 receptor-containing neurons of the nucleus accumbens shell in behavioral sensitization
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cardiovascular
    PATHWAY
    metabolism
    signaling neurotransmission
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • calnexin interactions critically regulate DRD1
  • CALY interacting directly with DRD1, and is implicated in various neuropsychiatric disorders including schizophrenia, bipolar disorder, and attention deficit hyperactivity disorder
  • CALY interacts with DLG4 and subsequently forms a ternary complex with DRD1 through DLG4
  • interaction between DRD1 and NMDAR in synapses participate in the building of the dopamine-receptor-mediated signalling, and most likely to the glutamate-dopamine cross-talk
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       gain of function
    reduces renal sodium reabsorption
    Susceptibility
  • to schizophrenia (rs 4532)
  • to bipolar disorder
  • to alcoholism
  • to nicotine dependence
  • to autism spectrum disorder in male-only
  • to blood pressure variation
    • Variant & Polymorphism other
  • 5' UTR polymorphism associated with severity and temperament of alcoholism
  • A48G polymorphism in the D1 receptor genes associated with bipolar I disorder
  • polymorphisms increasing the risk of nicotine dependence
  • haplotype increasing the risk of autism spectrum disorder in male-only
  • DRD1 AGC haplotype associated with lower systolic (-3.54 mm Hg) and diastolic (-2.80 mm Hg)
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS