Human Gene DRD5 (ENST00000304374.4) from GENCODE V44
  Description: Homo sapiens dopamine receptor D5 (DRD5), mRNA. (from RefSeq NM_000798)
RefSeq Summary (NM_000798): This gene encodes the D5 subtype of the dopamine receptor. The D5 subtype is a G-protein coupled receptor which stimulates adenylyl cyclase. This receptor is expressed in neurons in the limbic regions of the brain. It has a 10-fold higher affinity for dopamine than the D1 subtype. Pseudogenes related to this gene reside on chromosomes 1 and 2. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments and orthologous data.
Gencode Transcript: ENST00000304374.4
Gencode Gene: ENSG00000169676.6
Transcript (Including UTRs)
   Position: hg38 chr4:9,781,634-9,784,009 Size: 2,376 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg38 chr4:9,782,030-9,783,463 Size: 1,434 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:9,781,634-9,784,009)mRNA (may differ from genome)Protein (477 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DRD5_HUMAN
DESCRIPTION: RecName: Full=D(1B) dopamine receptor; AltName: Full=D(5) dopamine receptor; AltName: Full=D1beta dopamine receptor; AltName: Full=Dopamine D5 receptor;
FUNCTION: Dopamine receptor whose activity is mediated by G proteins which activate adenylyl cyclase.
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Neuron-specific, localized primarily within limbic regions of the brain.
DISEASE: Defects in DRD5 are a cause of benign essential blepharospasm (BEB) [MIM:606798]. BEB is a primary focal dystonia affecting the orbicularis oculi muscles. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. BEB usually begins in middle age. Initial symptoms include eye irritation and frequent blinking, progressing to involuntary spasms of eyelid closure. Patients have normal eyes. The visual disturbance is due solely to the forced closure of the eyelids. In severe cases, this can lead to functional blindness.
SIMILARITY: Belongs to the G-protein coupled receptor 1 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DRD5
Diseases sorted by gene-association score: blepharospasm, primary benign* (950), blepharospasm* (443), attention deficit-hyperactivity disorder* (416), attention deficit-hyperactivity disorder susceptibility, drd5-related* (100), focal dystonia (31), cranio-facial dystonia (18), meige syndrome (18), substance dependence (12), cervical dystonia (10), wolfram syndrome (8), entropion (8), lagophthalmos (7), gilles de la tourette syndrome (7), focal hand dystonia (7), conduct disorder (6), substance abuse (6), exposure keratitis (5), eyelid disease (5), tic disorder (5), dystonia (5), migraine with or without aura 1 (2), schizophrenia (2), specific developmental disorder (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.77 RPKM in Brain - Anterior cingulate cortex (BA24)
Total median expression: 8.50 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -181.00396-0.457 Picture PostScript Text
3' UTR -141.60546-0.259 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000276 - 7TM_GPCR_Rhodpsn
IPR000497 - Dopa_1B_rcpt
IPR000929 - Dopamine_rcpt
IPR017452 - GPCR_Rhodpsn_supfam

Pfam Domains:
PF00001 - 7 transmembrane receptor (rhodopsin family)

ModBase Predicted Comparative 3D Structure on P21918
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001588 dopamine neurotransmitter receptor activity, coupled via Gs
GO:0004871 signal transducer activity
GO:0004930 G-protein coupled receptor activity
GO:0004952 dopamine neurotransmitter receptor activity
GO:0035240 dopamine binding

Biological Process:
GO:0001963 synaptic transmission, dopaminergic
GO:0001975 response to amphetamine
GO:0001992 regulation of systemic arterial blood pressure by vasopressin
GO:0001994 norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure
GO:0006874 cellular calcium ion homeostasis
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway
GO:0007190 activation of adenylate cyclase activity
GO:0007191 adenylate cyclase-activating dopamine receptor signaling pathway
GO:0007268 chemical synaptic transmission
GO:0007612 learning
GO:0007617 mating behavior
GO:0008306 associative learning
GO:0019226 transmission of nerve impulse
GO:0033861 negative regulation of NAD(P)H oxidase activity
GO:0042060 wound healing
GO:0042220 response to cocaine
GO:0045762 positive regulation of adenylate cyclase activity
GO:0045776 negative regulation of blood pressure
GO:0045924 regulation of female receptivity
GO:0046960 sensitization
GO:0060158 phospholipase C-activating dopamine receptor signaling pathway
GO:0060292 long term synaptic depression
GO:0071870 cellular response to catecholamine stimulus
GO:0072593 reactive oxygen species metabolic process

Cellular Component:
GO:0005622 intracellular
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031526 brush border membrane
GO:0060170 ciliary membrane
GO:0097730 non-motile cilium


-  Descriptions from all associated GenBank mRNAs
  JD335871 - Sequence 316895 from Patent EP1572962.
AK313897 - Homo sapiens cDNA, FLJ94533, Homo sapiens dopamine receptor D5 (DRD5), mRNA.
BC009748 - Homo sapiens dopamine receptor D5, mRNA (cDNA clone MGC:10601 IMAGE:3928370), complete cds.
CU679469 - Synthetic construct Homo sapiens gateway clone IMAGE:100017347 5' read DRD5 mRNA.
AB587599 - Synthetic construct DNA, clone: pF1KB9870, Homo sapiens DRD5 gene for dopamine receptor D5, without stop codon, in Flexi system.
DQ895120 - Synthetic construct Homo sapiens clone IMAGE:100009580; FLH181540.01L; RZPDo839E07135D dopamine receptor D5 (DRD5) gene, encodes complete protein.
DQ891933 - Synthetic construct clone IMAGE:100004563; FLH181544.01X; RZPDo839E07136D dopamine receptor D5 (DRD5) gene, encodes complete protein.
KJ896728 - Synthetic construct Homo sapiens clone ccsbBroadEn_06122 DRD5 gene, encodes complete protein.
AY136750 - Homo sapiens dopamine receptor D5 (DRD5) mRNA, complete cds.
JD063790 - Sequence 44814 from Patent EP1572962.
JD537680 - Sequence 518704 from Patent EP1572962.
JD519189 - Sequence 500213 from Patent EP1572962.
JD259396 - Sequence 240420 from Patent EP1572962.
JD498790 - Sequence 479814 from Patent EP1572962.
JD154382 - Sequence 135406 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04020 - Calcium signaling pathway
hsa04080 - Neuroactive ligand-receptor interaction

Reactome (by CSHL, EBI, and GO)

Protein P21918 (Reactome details) participates in the following event(s):

R-HSA-390835 D1-like dopamine receptors bind to dopamine
R-HSA-744886 The Ligand:GPCR:Gs complex dissociates
R-HSA-744887 Liganded Gs-activating GPCRs bind inactive heterotrimeric Gs
R-HSA-379044 Liganded Gs-activating GPCR acts as a GEF for Gs
R-HSA-390651 Dopamine receptors
R-HSA-418555 G alpha (s) signalling events
R-HSA-375280 Amine ligand-binding receptors
R-HSA-388396 GPCR downstream signalling
R-HSA-373076 Class A/1 (Rhodopsin-like receptors)
R-HSA-372790 Signaling by GPCR
R-HSA-500792 GPCR ligand binding
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B2R9S3, DRD1B, DRD1L2, DRD5_HUMAN, ENST00000304374.1, ENST00000304374.2, ENST00000304374.3, NM_000798, P21918, Q8NEQ8, uc003gmb.1, uc003gmb.2, uc003gmb.3, uc003gmb.4, uc003gmb.5, uc003gmb.6
UCSC ID: ENST00000304374.4
RefSeq Accession: NM_000798
Protein: P21918 (aka DRD5_HUMAN or DBDR_HUMAN)
CCDS: CCDS3405.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.