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
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.
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.
ModBase Predicted Comparative 3D Structure on P21918
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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.