DRD1 dopamine receptor D1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DRD1provided by HGNC
Official Full Name: dopamine receptor D1provided by HGNC
Primary source: HGNC:HGNC:3020
See related: Ensembl:ENSG00000184845 MIM:126449; AllianceGenome:HGNC:3020
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: D1R; DADR; DRD1A
Summary: This gene encodes the D1 subtype of the dopamine receptor. The D1 subtype is the most abundant dopamine receptor in the central nervous system. This G-protein coupled receptor stimulates adenylyl cyclase and activates cyclic AMP-dependent protein kinases. D1 receptors regulate neuronal growth and development, mediate some behavioral responses, and modulate dopamine receptor D2-mediated events. Alternate transcription initiation sites result in two transcript variants of this gene. [provided by RefSeq, Jul 2008]
Expression: Biased expression in brain (RPKM 3.4), placenta (RPKM 0.8) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q35.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (175440036..175444182, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (175983814..175987960, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (174867039..174871185, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dopamine D1-Receptor Organization Contributes to Functional Brain Architecture.
Title: Dopamine D1-Receptor Organization Contributes to Functional Brain Architecture.
Unravelling neurotransmitters impairment in primary progressive aphasias.
Title: Unravelling neurotransmitters impairment in primary progressive aphasias.
DRD1 signaling modulates TrkB turnover and BDNF sensitivity in direct pathway striatal medium spiny neurons.
Title: DRD1 signaling modulates TrkB turnover and BDNF sensitivity in direct pathway striatal medium spiny neurons.
Dopamine Receptor D1 Is Exempt from Transforming Growth Factor beta-Mediated Antifibrotic G Protein-Coupled Receptor Landscape Tampering in Lung Fibroblasts.
Title: Dopamine Receptor D1 Is Exempt from Transforming Growth Factor β-Mediated Antifibrotic G Protein-Coupled Receptor Landscape Tampering in Lung Fibroblasts.
Inhibition of dopamine receptor D1 signaling promotes human bile duct cancer progression via WNT signaling.
Title: Inhibition of dopamine receptor D1 signaling promotes human bile duct cancer progression via WNT signaling.
Dopamine D1 receptor activation ameliorates ox-LDL-induced endothelial cell senescence via CREB/Nrf2 pathway.
Title: Dopamine D1 receptor activation ameliorates ox-LDL-induced endothelial cell senescence via CREB/Nrf2 pathway.
An Investigation into the Association Between Dopamine Receptor D1 Multilocus Genetic Variation, Multiparametric Magnetic Resonance Imaging, and Antidepressant Treatment.
Title: An Investigation into the Association Between Dopamine Receptor D1 Multilocus Genetic Variation, Multiparametric Magnetic Resonance Imaging, and Antidepressant Treatment.
Dopamine receptor 1 expressing B cells exert a proinflammatory role in female patients with rheumatoid arthritis.
Title: Dopamine receptor 1 expressing B cells exert a proinflammatory role in female patients with rheumatoid arthritis.
HERV-W Envelope Triggers Abnormal Dopaminergic Neuron Process through DRD2/PP2A/AKT1/GSK3 for Schizophrenia Risk.
Title: HERV-W Envelope Triggers Abnormal Dopaminergic Neuron Process through DRD2/PP2A/AKT1/GSK3 for Schizophrenia Risk.
Mechanism of dopamine binding and allosteric modulation of the human D1 dopamine receptor.
Title: Mechanism of dopamine binding and allosteric modulation of the human D1 dopamine receptor.

Submit: New GeneRIF Correction See all GeneRIFs (219)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Beyond single-marker analyses: mining whole genome scans for insights into treatment responses in severe sepsis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat and methamphetamine inhibit the normal conjunction of signaling between D1 and NMDA receptors, resulting in neural dysfunction and death	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:595086 (e-PCR)
- UniSTS:158013

GDB:595113 (e-PCR)
- UniSTS:158014

GDB:595139 (e-PCR)
- UniSTS:158015

GDB:595147 (e-PCR)
- UniSTS:158016

RH16255 (e-PCR)
- UniSTS:25428

D5S2403 (e-PCR)
- UniSTS:68440

RH18117 (e-PCR)
- UniSTS:39773

NoName (e-PCR)
- UniSTS:482142

SGC34944 (e-PCR)
- UniSTS:17768

G44335 (e-PCR)
- UniSTS:95122

GDB:251589 (e-PCR)
- UniSTS:156309

GDB:251590 (e-PCR)
- UniSTS:156310

GDB:251591 (e-PCR)
- UniSTS:156311

GDB:251592 (e-PCR)
- UniSTS:156312

DRD1 (e-PCR)
- UniSTS:479906

GDB:681987 (e-PCR)
- UniSTS:158636

DRD1_599 (e-PCR)
- UniSTS:277169

PMC311033P2 (e-PCR)
- UniSTS:272840

GDB:210842 (e-PCR)
- UniSTS:156156

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables G-protein alpha-subunit binding	IPI Inferred from Physical Interaction more info	PubMed
enables arrestin family protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables dopamine binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables dopamine neurotransmitter receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables dopamine neurotransmitter receptor activity, coupled via Gs	IBA Inferred from Biological aspect of Ancestor more info
enables dopamine neurotransmitter receptor activity, coupled via Gs	IDA Inferred from Direct Assay more info	PubMed
enables dopamine neurotransmitter receptor activity, coupled via Gs	IMP Inferred from Mutant Phenotype more info	PubMed
enables heterotrimeric G-protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	IDA Inferred from Direct Assay more info	PubMed
involved_in activation of adenylate cyclase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in adenylate cyclase-activating adrenergic receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in adenylate cyclase-activating dopamine receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in adenylate cyclase-activating dopamine receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in adult walking behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in astrocyte development	IEA Inferred from Electronic Annotation more info
involved_in behavioral fear response	IEA Inferred from Electronic Annotation more info
involved_in behavioral response to cocaine	IEA Inferred from Electronic Annotation more info
involved_in cellular response to catecholamine stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cerebral cortex GABAergic interneuron migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in conditioned taste aversion	IEA Inferred from Electronic Annotation more info
involved_in dentate gyrus development	IEA Inferred from Electronic Annotation more info
involved_in dopamine metabolic process	IC Inferred by Curator more info	PubMed
involved_in dopamine receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in dopamine transport	IEA Inferred from Electronic Annotation more info
involved_in glucose import	IEA Inferred from Electronic Annotation more info
involved_in grooming behavior	IEA Inferred from Electronic Annotation more info
involved_in habituation	IEA Inferred from Electronic Annotation more info
involved_in long-term synaptic depression	IEA Inferred from Electronic Annotation more info
involved_in long-term synaptic potentiation	IEA Inferred from Electronic Annotation more info
involved_in maternal behavior	IEA Inferred from Electronic Annotation more info
involved_in mating behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in memory	IEA Inferred from Electronic Annotation more info
involved_in modification of postsynaptic structure	IEA Inferred from Electronic Annotation more info
involved_in neuronal action potential	IEA Inferred from Electronic Annotation more info
involved_in operant conditioning	IEA Inferred from Electronic Annotation more info
involved_in peristalsis	IEA Inferred from Electronic Annotation more info
involved_in phospholipase C-activating dopamine receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neuron migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of potassium ion transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of release of sequestered calcium ion into cytosol	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of synaptic transmission, glutamatergic	ISS Inferred from Sequence or Structural Similarity more info
involved_in prepulse inhibition	ISS Inferred from Sequence or Structural Similarity more info
involved_in presynaptic modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in protein import into nucleus	IEA Inferred from Electronic Annotation more info
involved_in regulation of dopamine metabolic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of dopamine uptake involved in synaptic transmission	IC Inferred by Curator more info	PubMed
involved_in regulation of protein phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in response to amphetamine	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in sensitization	IEA Inferred from Electronic Annotation more info
involved_in striatum development	IEA Inferred from Electronic Annotation more info
involved_in synapse assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic transmission, dopaminergic	IEA Inferred from Electronic Annotation more info
involved_in synaptic transmission, glutamatergic	IEA Inferred from Electronic Annotation more info
involved_in temperature homeostasis	IEA Inferred from Electronic Annotation more info
involved_in transmission of nerve impulse	ISS Inferred from Sequence or Structural Similarity more info
involved_in vasodilation	IEA Inferred from Electronic Annotation more info
involved_in visual learning	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of G protein-coupled receptor complex	IMP Inferred from Mutant Phenotype more info	PubMed
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
located_in ciliary membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in dendritic spine	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in non-motile cilium	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IC Inferred by Curator more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
located_in presynaptic membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: D(1A) dopamine receptor

Names: dopamine D1 receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011802.1 RefSeqGene

Range

4979..9125

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000794.5 → NP_000785.1 D(1A) dopamine receptor

See identical proteins and their annotated locations for NP_000785.1

Status: REVIEWED

Source sequence(s)

AC091393

Consensus CDS

CCDS4393.1

UniProtKB/Swiss-Prot

B2RA44, P21728, Q4QRJ0

UniProtKB/TrEMBL

Q6FH34

Related

ENSP00000377353.1, ENST00000393752.3

Conserved Domains (1) summary

cd15320
Location:23 → 341

7tmA_D1A_dopamine_R; D1A (or D1) subtype dopamine receptor, member of the class A family of seven-transmembrane G protein-coupled receptors