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FLASH GENE

Symbol

DRD1

contributors: mct - updated : 12-01-2015

HGNC name	dopamine receptor D1
HGNC id	3020

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	3.49 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - FLT4 /D5S211 - DRD1 - FGFR4 - D5S62 /D5S43 - qter
Authors	Frolova (91), Warrington (92), Wetsbrook (92)
Text	see D5S2360

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000794 2 - 3373 NP_000785 - 446 - 2007 17310237

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol endocrine brain diencephalon pituitary     Nervous brain limbic system hippocampus dentate gyrus   Homo sapiens   brain basal nuclei caudate nucleus     Respiratory respiratory tract bronchus       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Muscular smooth       Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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