DRD1 Gene (Dopamine Receptor D1): Function, Expression, and Disease Associations

The DRD1 gene encodes the D1 subtype of dopamine receptors, a G protein-coupled receptor that activates adenylyl cyclase via Gs/olf proteins, increasing intracellular cAMP. It is predominantly expressed in the central nervous system, particularly in the striatum, and plays critical roles in motor control, reward, cognition, and neuroendocrine regulation. DRD1 is implicated in several neuropsychiatric and neurological disorders, including schizophrenia, Parkinson's disease, and substance use disorders.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Dopamine receptor signaling (Reactome: R-HSA-418594)

• GPCR downstream signaling (Reactome: R-HSA-372790)

• cAMP signaling pathway (KEGG: hsa04024)

• Neuroactive ligand-receptor interaction (KEGG: hsa04080)

The D1 dopamine receptor is a 446-amino acid protein with seven transmembrane domains, typical of G protein-coupled receptors. It couples to Gs/olf proteins, activating adenylyl cyclase and increasing cAMP levels, leading to PKA activation and downstream effects on ion channels and gene expression. The receptor is N-glycosylated at the N-terminus and has phosphorylation sites in the third intracellular loop and C-terminus, regulating desensitization. It forms heteromers with other receptors (e.g., D2, adenosine A2A) modulating signaling. DRD1 is a major target for antipsychotic and psychostimulant drugs.