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D(1B) dopamine receptor (D(5) dopamine receptor) (D1beta dopamine receptor) (Dopamine D5 receptor)

 DRD5_HUMAN              Reviewed;         477 AA.
P21918; B2R9S3; Q8NEQ8;
01-MAY-1991, integrated into UniProtKB/Swiss-Prot.
01-MAR-1992, sequence version 2.
27-SEP-2017, entry version 190.
RecName: Full=D(1B) dopamine receptor;
AltName: Full=D(5) dopamine receptor;
AltName: Full=D1beta dopamine receptor;
AltName: Full=Dopamine D5 receptor;
Name=DRD5; Synonyms=DRD1B, DRD1L2;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
TISSUE=Brain;
PubMed=1826762; DOI=10.1038/350614a0;
Sunahara R.K., Guan H.-C., O'Dowd B.F., Seeman P., Laurier L.G.,
Ng G., George S.R., Torchia J., van Tol H.H.M., Niznik H.B.;
"Cloning of the gene for a human dopamine D5 receptor with higher
affinity for dopamine than D1.";
Nature 350:614-619(1991).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=1833775; DOI=10.1073/pnas.88.20.9175;
Grandy D.K., Zhang Y., Bouvier C., Zhou Q.-Y., Johnson R.A., Allen L.,
Buck K., Bunzow J.R., Salon J., Civelli O.;
"Multiple human D5 dopamine receptor genes: a functional receptor and
two pseudogenes.";
Proc. Natl. Acad. Sci. U.S.A. 88:9175-9179(1991).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, AND TISSUE SPECIFICITY.
TISSUE=Spleen;
PubMed=1834671;
Weinshank R.L., Adham N., Macchi M., Olsen M.A., Branchek T.A.,
Hartig P.R.;
"Molecular cloning and characterization of a high affinity dopamine
receptor (D1 beta) and its pseudogene.";
J. Biol. Chem. 266:22427-22435(1991).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Puhl H.L. III, Ikeda S.R., Aronstam R.S.;
"cDNA clones of human proteins involved in signal transduction
sequenced by the Guthrie cDNA resource center (www.cdna.org).";
Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Amygdala;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Ovary;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[8]
GLYCOSYLATION AT ASN-7, AND MUTAGENESIS OF ASN-7.
PubMed=10531415;
Karpa K.D., Lidow M.S., Pickering M.T., Levenson R., Bergson C.;
"N-linked glycosylation is required for plasma membrane localization
of D5, but not D1, dopamine receptors in transfected mammalian
cells.";
Mol. Pharmacol. 56:1071-1078(1999).
[9]
INVOLVEMENT IN BEB.
PubMed=11781417; DOI=10.1212/WNL.58.1.124;
Misbahuddin A., Placzek M.R., Chaudhuri K.R., Wood N.W., Bhatia K.P.,
Warner T.T.;
"A polymorphism in the dopamine receptor DRD5 is associated with
blepharospasm.";
Neurology 58:124-126(2002).
[10]
VARIANTS VAL-269; GLN-330; ASP-351 AND CYS-453.
PubMed=7633397; DOI=10.1093/hmg/4.4.507;
Sobell J.L., Lind T.J., Sigurdson D.C., Zald D.H., Snitz B.E.,
Grove W.M., Heston L.L., Sommer S.S.;
"The D5 dopamine receptor gene in schizophrenia: identification of a
nonsense change and multiple missense changes but lack of association
with disease.";
Hum. Mol. Genet. 4:507-514(1995).
[11]
VARIANT ARG-88.
PubMed=10391209; DOI=10.1038/10290;
Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N.,
Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L.,
Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q.,
Lander E.S.;
"Characterization of single-nucleotide polymorphisms in coding regions
of human genes.";
Nat. Genet. 22:231-238(1999).
[12]
ERRATUM.
Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N.,
Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L.,
Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q.,
Lander E.S.;
Nat. Genet. 23:373-373(1999).
-!- FUNCTION: Dopamine receptor whose activity is mediated by G
proteins which activate adenylyl cyclase.
{ECO:0000269|PubMed:1834671}.
-!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
-!- TISSUE SPECIFICITY: Neuron-specific, localized primarily within
limbic regions of the brain. {ECO:0000269|PubMed:1834671}.
-!- DISEASE: Benign essential blepharospasm (BEB) [MIM:606798]: 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.
{ECO:0000269|PubMed:11781417}. Note=Disease susceptibility may be
associated with variations affecting the gene represented in this
entry.
-!- SIMILARITY: Belongs to the G-protein coupled receptor 1 family.
{ECO:0000255|PROSITE-ProRule:PRU00521}.
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EMBL; X58454; CAA41360.1; -; Genomic_DNA.
EMBL; M67439; AAA52329.1; -; Genomic_DNA.
EMBL; AY136750; AAN01276.1; -; mRNA.
EMBL; AK313897; BAG36620.1; -; mRNA.
EMBL; CH471069; EAW92679.1; -; Genomic_DNA.
EMBL; BC009748; AAH09748.1; -; mRNA.
CCDS; CCDS3405.1; -.
PIR; S15080; DYHUD5.
RefSeq; NP_000789.1; NM_000798.4.
UniGene; Hs.380681; -.
ProteinModelPortal; P21918; -.
BioGrid; 108150; 3.
IntAct; P21918; 1.
STRING; 9606.ENSP00000306129; -.
BindingDB; P21918; -.
ChEMBL; CHEMBL1850; -.
DrugBank; DB00714; Apomorphine.
DrugBank; DB01238; Aripiprazole.
DrugBank; DB01200; Bromocriptine.
DrugBank; DB00248; Cabergoline.
DrugBank; DB01038; Carphenazine.
DrugBank; DB00477; Chlorpromazine.
DrugBank; DB00568; Cinnarizine.
DrugBank; DB00988; Dopamine.
DrugBank; DB00696; Ergotamine.
DrugBank; DB00800; Fenoldopam.
DrugBank; DB00458; Imipramine.
DrugBank; DB01235; Levodopa.
DrugBank; DB00589; Lisuride.
DrugBank; DB00408; Loxapine.
DrugBank; DB01403; Methotrimeprazine.
DrugBank; DB06148; Mianserin.
DrugBank; DB00370; Mirtazapine.
DrugBank; DB00334; Olanzapine.
DrugBank; DB01186; Pergolide.
DrugBank; DB00413; Pramipexole.
DrugBank; DB01224; Quetiapine.
DrugBank; DB00268; Ropinirole.
DrugBank; DB05271; Rotigotine.
DrugBank; DB00726; Trimipramine.
DrugBank; DB00246; Ziprasidone.
DrugBank; DB01624; Zuclopenthixol.
GuidetoPHARMACOLOGY; 218; -.
BioMuta; DRD5; -.
DMDM; 118214; -.
PaxDb; P21918; -.
PeptideAtlas; P21918; -.
PRIDE; P21918; -.
DNASU; 1816; -.
Ensembl; ENST00000304374; ENSP00000306129; ENSG00000169676.
GeneID; 1816; -.
KEGG; hsa:1816; -.
UCSC; uc003gmb.5; human.
CTD; 1816; -.
DisGeNET; 1816; -.
EuPathDB; HostDB:ENSG00000169676.5; -.
GeneCards; DRD5; -.
H-InvDB; HIX0029583; -.
HGNC; HGNC:3026; DRD5.
HPA; HPA048930; -.
MalaCards; DRD5; -.
MIM; 126453; gene+phenotype.
MIM; 606798; phenotype.
neXtProt; NX_P21918; -.
OpenTargets; ENSG00000169676; -.
Orphanet; 93962; Autosomal dominant cervical dystonia.
Orphanet; 93955; Benign essential blepharospasm.
PharmGKB; PA148; -.
eggNOG; KOG3656; Eukaryota.
eggNOG; ENOG410XRW9; LUCA.
GeneTree; ENSGT00890000139331; -.
HOGENOM; HOG000239242; -.
HOVERGEN; HBG106962; -.
InParanoid; P21918; -.
KO; K05840; -.
OMA; VWELDCE; -.
OrthoDB; EOG091G06VI; -.
PhylomeDB; P21918; -.
TreeFam; TF325181; -.
Reactome; R-HSA-390651; Dopamine receptors.
Reactome; R-HSA-418555; G alpha (s) signalling events.
GeneWiki; Dopamine_receptor_D5; -.
GenomeRNAi; 1816; -.
PRO; PR:P21918; -.
Proteomes; UP000005640; Chromosome 4.
Bgee; ENSG00000169676; -.
CleanEx; HS_DRD5; -.
Genevisible; P21918; HS.
GO; GO:0031526; C:brush border membrane; IEA:Ensembl.
GO; GO:0060170; C:ciliary membrane; IDA:SYSCILIA_CCNET.
GO; GO:0005887; C:integral component of plasma membrane; TAS:BHF-UCL.
GO; GO:0097730; C:non-motile cilium; IDA:SYSCILIA_CCNET.
GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
GO; GO:0035240; F:dopamine binding; IDA:UniProtKB.
GO; GO:0004952; F:dopamine neurotransmitter receptor activity; IDA:UniProtKB.
GO; GO:0001588; F:dopamine neurotransmitter receptor activity, coupled via Gs; TAS:BHF-UCL.
GO; GO:0007190; P:activation of adenylate cyclase activity; TAS:BHF-UCL.
GO; GO:0007191; P:adenylate cyclase-activating dopamine receptor signaling pathway; IDA:UniProtKB.
GO; GO:0007189; P:adenylate cyclase-activating G-protein coupled receptor signaling pathway; IDA:UniProtKB.
GO; GO:0008306; P:associative learning; IEA:Ensembl.
GO; GO:0006874; P:cellular calcium ion homeostasis; TAS:BHF-UCL.
GO; GO:0071870; P:cellular response to catecholamine stimulus; IDA:BHF-UCL.
GO; GO:0007268; P:chemical synaptic transmission; NAS:UniProtKB.
GO; GO:0007612; P:learning; IBA:GO_Central.
GO; GO:0060292; P:long term synaptic depression; IEA:Ensembl.
GO; GO:0045776; P:negative regulation of blood pressure; IEA:Ensembl.
GO; GO:0033861; P:negative regulation of NAD(P)H oxidase activity; IDA:UniProtKB.
GO; GO:0001994; P:norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure; IEA:Ensembl.
GO; GO:0060158; P:phospholipase C-activating dopamine receptor signaling pathway; TAS:BHF-UCL.
GO; GO:0045762; P:positive regulation of adenylate cyclase activity; IDA:UniProtKB.
GO; GO:0010579; P:positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway; IEA:InterPro.
GO; GO:0072593; P:reactive oxygen species metabolic process; IDA:UniProtKB.
GO; GO:0045924; P:regulation of female receptivity; IEA:Ensembl.
GO; GO:0001992; P:regulation of systemic arterial blood pressure by vasopressin; IEA:Ensembl.
GO; GO:0001975; P:response to amphetamine; IEA:Ensembl.
GO; GO:0042220; P:response to cocaine; IEA:Ensembl.
GO; GO:0046960; P:sensitization; IEA:Ensembl.
GO; GO:0001963; P:synaptic transmission, dopaminergic; NAS:UniProtKB.
GO; GO:0019226; P:transmission of nerve impulse; IEA:Ensembl.
GO; GO:0042060; P:wound healing; IEA:Ensembl.
InterPro; IPR000497; Dopamine_D5_rcpt.
InterPro; IPR000929; Dopamine_rcpt.
InterPro; IPR000276; GPCR_Rhodpsn.
InterPro; IPR017452; GPCR_Rhodpsn_7TM.
Pfam; PF00001; 7tm_1; 1.
PRINTS; PR00566; DOPAMINED1BR.
PRINTS; PR00242; DOPAMINER.
PRINTS; PR00237; GPCRRHODOPSN.
SMART; SM01381; 7TM_GPCR_Srsx; 1.
PROSITE; PS00237; G_PROTEIN_RECEP_F1_1; 1.
PROSITE; PS50262; G_PROTEIN_RECEP_F1_2; 1.
1: Evidence at protein level;
Cell membrane; Complete proteome; Disulfide bond; Dystonia;
G-protein coupled receptor; Glycoprotein; Lipoprotein; Membrane;
Palmitate; Polymorphism; Receptor; Reference proteome; Transducer;
Transmembrane; Transmembrane helix.
CHAIN 1 477 D(1B) dopamine receptor.
/FTId=PRO_0000069405.
TOPO_DOM 1 39 Extracellular. {ECO:0000255}.
TRANSMEM 40 66 Helical; Name=1. {ECO:0000255}.
TOPO_DOM 67 77 Cytoplasmic. {ECO:0000255}.
TRANSMEM 78 104 Helical; Name=2. {ECO:0000255}.
TOPO_DOM 105 114 Extracellular. {ECO:0000255}.
TRANSMEM 115 136 Helical; Name=3. {ECO:0000255}.
TOPO_DOM 137 158 Cytoplasmic. {ECO:0000255}.
TRANSMEM 159 180 Helical; Name=4. {ECO:0000255}.
TOPO_DOM 181 223 Extracellular. {ECO:0000255}.
TRANSMEM 224 246 Helical; Name=5. {ECO:0000255}.
TOPO_DOM 247 296 Cytoplasmic. {ECO:0000255}.
TRANSMEM 297 320 Helical; Name=6. {ECO:0000255}.
TOPO_DOM 321 340 Extracellular. {ECO:0000255}.
TRANSMEM 341 360 Helical; Name=7. {ECO:0000255}.
TOPO_DOM 361 477 Cytoplasmic. {ECO:0000255}.
LIPID 375 375 S-palmitoyl cysteine. {ECO:0000250}.
CARBOHYD 7 7 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:10531415}.
CARBOHYD 222 222 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 113 217 {ECO:0000255|PROSITE-ProRule:PRU00521}.
VARIANT 62 62 C -> S (in dbSNP:rs2227840).
/FTId=VAR_029210.
VARIANT 88 88 L -> R (in dbSNP:rs6282).
{ECO:0000269|PubMed:10391209}.
/FTId=VAR_011837.
VARIANT 110 110 G -> E (in dbSNP:rs2227849).
/FTId=VAR_029211.
VARIANT 207 207 F -> V (in dbSNP:rs2227845).
/FTId=VAR_029212.
VARIANT 233 233 S -> N (in dbSNP:rs2227843).
/FTId=VAR_029213.
VARIANT 238 238 V -> I (in dbSNP:rs2227852).
/FTId=VAR_024254.
VARIANT 269 269 A -> V (in dbSNP:rs538877978).
{ECO:0000269|PubMed:7633397}.
/FTId=VAR_003458.
VARIANT 286 286 A -> V (in dbSNP:rs2227850).
/FTId=VAR_029215.
VARIANT 297 297 T -> P (in dbSNP:rs2227851).
/FTId=VAR_061217.
VARIANT 330 330 P -> Q (in dbSNP:rs1800762).
{ECO:0000269|PubMed:7633397}.
/FTId=VAR_003459.
VARIANT 351 351 N -> D. {ECO:0000269|PubMed:7633397}.
/FTId=VAR_003460.
VARIANT 453 453 S -> C (in dbSNP:rs776114395).
{ECO:0000269|PubMed:7633397}.
/FTId=VAR_003461.
MUTAGEN 7 7 N->Q: Impairs subcellular location.
{ECO:0000269|PubMed:10531415}.
SEQUENCE 477 AA; 52951 MW; BACCB85E5A72F9CA CRC64;
MLPPGSNGTA YPGQFALYQQ LAQGNAVGGS AGAPPLGPSQ VVTACLLTLL IIWTLLGNVL
VCAAIVRSRH LRANMTNVFI VSLAVSDLFV ALLVMPWKAV AEVAGYWPFG AFCDVWVAFD
IMCSTASILN LCVISVDRYW AISRPFRYKR KMTQRMALVM VGLAWTLSIL ISFIPVQLNW
HRDQAASWGG LDLPNNLANW TPWEEDFWEP DVNAENCDSS LNRTYAISSS LISFYIPVAI
MIVTYTRIYR IAQVQIRRIS SLERAAEHAQ SCRSSAACAP DTSLRASIKK ETKVLKTLSV
IMGVFVCCWL PFFILNCMVP FCSGHPEGPP AGFPCVSETT FDVFVWFGWA NSSLNPVIYA
FNADFQKVFA QLLGCSHFCS RTPVETVNIS NELISYNQDI VFHKEIAAAY IHMMPNAVTP
GNREVDNDEE EGPFDRMFQI YQTSPDGDPV AESVWELDCE GEISLDKITP FTPNGFH


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