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    DRD3 dopamine receptor D3 [ Homo sapiens (human) ]

    Gene ID: 1814, updated on 22-Apr-2017
    Official Symbol
    DRD3provided by HGNC
    Official Full Name
    dopamine receptor D3provided by HGNC
    Primary source
    HGNC:HGNC:3024
    See related
    Ensembl:ENSG00000151577 MIM:126451; Vega:OTTHUMG00000159334
    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
    D3DR; ETM1; FET1
    Summary
    This gene encodes the D3 subtype of the five (D1-D5) dopamine receptors. The activity of the D3 subtype receptor is mediated by G proteins which inhibit adenylyl cyclase. This receptor is localized to the limbic areas of the brain, which are associated with cognitive, emotional, and endocrine functions. Genetic variation in this gene may be associated with susceptibility to hereditary essential tremor 1. Alternative splicing of this gene results in transcript variants encoding different isoforms, although some variants may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    3q13.31
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (114127623..114199407, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (113847499..113918254, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene queuine tRNA-ribosyltransferase accessory subunit 2 Neighboring gene histone cluster 1, H2bj pseudogene Neighboring gene uncharacterized LOC107986115 Neighboring gene zinc finger protein 80 Neighboring gene family with sequence similarity 214 member B pseudogene Neighboring gene T-cell immunoreceptor with Ig and ITIM domains

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Hereditary essential tremor 1
    MedGen: C1860861 OMIM: 190300 GeneReviews: Not available
    Compare labs
    Schizophrenia
    MedGen: C0036341 OMIM: 181500 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
    NHGRI GWA Catalog
    Genome-wide association study of the five-factor model of personality in young Korean women.
    NHGRI GWA Catalog
    • Amine ligand-binding receptors, organism-specific biosystem (from REACTOME)
      Amine ligand-binding receptors, organism-specific biosystemThe class A (rhodopsin-like) GPCRs that bind to classical biogenic amine ligands are annotated here. The amines involved (acetylcholine, adrenaline, noradrenaline, dopamine, serotonin and histamine)...
    • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
      Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
    • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
      Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
    • Dopamine receptors, organism-specific biosystem (from REACTOME)
      Dopamine receptors, organism-specific biosystemDopamine receptors play vital roles in processes such as the control of learning, motivation, fine motor control and modulation of neuroendocrine signaling (Giralt JA and Greengard P, 2004). Abnormal...
    • Dopaminergic synapse, organism-specific biosystem (from KEGG)
      Dopaminergic synapse, organism-specific biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
    • Dopaminergic synapse, conserved biosystem (from KEGG)
      Dopaminergic synapse, conserved biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
    • G alpha (i) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (i) signalling events, organism-specific biosystemThe classical signalling mechanism for G alpha (i) is inhibition of the cAMP dependent pathway through inhibition of adenylate cyclase. Decreased production of cAMP from ATP results in decreased act...
    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • GPCR ligand binding, organism-specific biosystem (from REACTOME)
      GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
    • GPCRs, Class A Rhodopsin-like, organism-specific biosystem (from WikiPathways)
      GPCRs, Class A Rhodopsin-like, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.gpcr.org/7tm/ (originally at http://www.cmbi.kun.nl/7tm/). The groupings are based on the GPCR phylogenetic tree available fr...
    • GPCRs, Other, organism-specific biosystem (from WikiPathways)
      GPCRs, Other, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.gpcr.org/7tm/ (originally at http://www.cmbi.kun.nl/7tm/). The groupings are based on the GPCR phylogenetic tree available fr...
    • Monoamine GPCRs, organism-specific biosystem (from WikiPathways)
      Monoamine GPCRs, organism-specific biosystem
      Monoamine GPCRs
    • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, organism-specific biosystem
      Neuroactive ligand-receptor interaction
    • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, conserved biosystem
      Neuroactive ligand-receptor interaction
    • Nicotine Activity on Dopaminergic Neurons, organism-specific biosystem (from WikiPathways)
      Nicotine Activity on Dopaminergic Neurons, organism-specific biosystemNicotine is an alkaloid found in tobacco plants. It is a substance that acts as a stimulant in humans and is one of the main factors responsible for tobacco dependence. When nicotine enters the body,...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC149204, MGC149205

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    D1 dopamine receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    dopamine binding IEA
    Inferred from Electronic Annotation
    more info
     
    dopamine neurotransmitter receptor activity, coupled via Gi/Go IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dopamine neurotransmitter receptor activity, coupled via Gi/Go ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    drug binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    drug binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    G-protein coupled receptor internalization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    G-protein coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acid secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    adenylate cyclase-activating dopamine receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    adenylate cyclase-inhibiting dopamine receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    arachidonic acid secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    behavioral response to cocaine IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    behavioral response to cocaine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular calcium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    circadian regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dopamine metabolic process IC
    Inferred by Curator
    more info
    PubMed 
    gastric emptying IEA
    Inferred from Electronic Annotation
    more info
     
    learning NAS
    Non-traceable Author Statement
    more info
    PubMed 
    learning or memory NAS
    Non-traceable Author Statement
    more info
    PubMed 
    locomotory behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    musculoskeletal movement, spinal reflex action ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of adenylate cyclase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of blood pressure ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of dopamine receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of oligodendrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of protein kinase B signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of protein secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of sodium:proton antiporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of dopamine receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of mitotic nuclear division ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of renal sodium excretion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    prepulse inhibition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of blood volume by renin-angiotensin IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cAMP metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of circadian sleep/wake cycle, sleep IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of dopamine secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of dopamine uptake involved in synaptic transmission IC
    Inferred by Curator
    more info
    PubMed 
    regulation of lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of locomotion involved in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    response to amphetamine IEA
    Inferred from Electronic Annotation
    more info
     
    response to cocaine IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    response to drug ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT response to ethanol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to histamine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to morphine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    social behavior NAS
    Non-traceable Author Statement
    more info
    PubMed 
    synaptic transmission, dopaminergic IEA
    Inferred from Electronic Annotation
    more info
     
    visual learning ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    apical part of cell IEA
    Inferred from Electronic Annotation
    more info
     
    cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    endocytic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane IC
    Inferred by Curator
    more info
    PubMed 
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    D(3) dopamine receptor
    Names
    essential tremor 1

    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

    1. NG_008842.2 RefSeqGene

      Range
      25356..75756
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000796.5NP_000787.2  D(3) dopamine receptor isoform a

      See identical proteins and their annotated locations for NP_000787.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a) represents the predominant transcript and encodes the longer isoform (a). Variants a, f and g encode the same isoform (a).
      Source sequence(s)
      AK292309, AY228458, BC095510
      Consensus CDS
      CCDS2978.1
      UniProtKB/Swiss-Prot
      P35462
      UniProtKB/TrEMBL
      A8K8E4, X5D2G4
      Related
      ENSP00000373169.2, ENST00000383673.4
      Conserved Domains (2) summary
      pfam00001
      Location:46383
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      cl21561
      Location:44216
      7tm_4; Olfactory receptor
    2. NM_001282563.2NP_001269492.1  D(3) dopamine receptor isoform a

      See identical proteins and their annotated locations for NP_001269492.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (f) differs in the 5' UTR compared to variant a. Variants a, f and g encode the same isoform (a).
      Source sequence(s)
      AK292309, BC095510
      Consensus CDS
      CCDS2978.1
      UniProtKB/Swiss-Prot
      P35462
      UniProtKB/TrEMBL
      A8K8E4, X5D2G4
      Related
      ENSP00000419402.1, OTTHUMP00000214909, ENST00000460779.5, OTTHUMT00000354699
      Conserved Domains (2) summary
      pfam00001
      Location:46383
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      cl21561
      Location:44216
      7tm_4; Olfactory receptor
    3. NM_001290809.1NP_001277738.1  D(3) dopamine receptor isoform a

      See identical proteins and their annotated locations for NP_001277738.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (g) has an additional internal exon in the 5' UTR, compared to variant a. Variants a, f and g encode the same isoform (a).
      Source sequence(s)
      AK292309, BC095510, BC128122
      Consensus CDS
      CCDS2978.1
      UniProtKB/Swiss-Prot
      P35462
      UniProtKB/TrEMBL
      A1A4V4, A8K8E4, X5D2G4
      Related
      ENSP00000420662.1, OTTHUMP00000214910, ENST00000467632.5, OTTHUMT00000354700
      Conserved Domains (2) summary
      pfam00001
      Location:46383
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      cl21561
      Location:44216
      7tm_4; Olfactory receptor
    4. NM_033663.5NP_387512.3  D(3) dopamine receptor isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e) has split coding exons at the 3' end compared to the penultimate coding exon of variant a. This results in a shorter isoform (e) missing a 33 aa segment compared to isoform a.
      Source sequence(s)
      AK292309, AY228458, BC095510, L20469
      Consensus CDS
      CCDS33829.1
      UniProtKB/Swiss-Prot
      P35462
      UniProtKB/TrEMBL
      A8K8E4, E9PCM4
      Related
      ENSP00000295881.6, ENST00000295881.9
      Conserved Domains (2) summary
      pfam00001
      Location:46350
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      cl21561
      Location:44216
      7tm_4; Olfactory receptor

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      114127623..114199407 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017005829.1XP_016861318.1  D(3) dopamine receptor isoform X1

      UniProtKB/TrEMBL
      X5D2G4
      Conserved Domains (2) summary
      pfam00001
      Location:46383
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      cl21561
      Location:44216
      7tm_4; Olfactory receptor

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      113810844..113881272 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_033658.1: Suppressed sequence

      Description
      NM_033658.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
    2. NM_033659.1: Suppressed sequence

      Description
      NM_033659.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    3. NM_033660.1: Suppressed sequence

      Description
      NM_033660.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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