DRD5_HUMAN
ID DRD5_HUMAN Reviewed; 477 AA.
AC P21918; B2R9S3; Q8NEQ8;
DT 01-MAY-1991, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-1992, sequence version 2.
DT 03-AUG-2022, entry version 221.
DE RecName: Full=D(1B) dopamine receptor;
DE AltName: Full=D(5) dopamine receptor;
DE AltName: Full=D1beta dopamine receptor;
DE AltName: Full=Dopamine D5 receptor;
GN Name=DRD5; Synonyms=DRD1B, DRD1L2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RC TISSUE=Brain;
RX PubMed=1826762; DOI=10.1038/350614a0;
RA Sunahara R.K., Guan H.-C., O'Dowd B.F., Seeman P., Laurier L.G., Ng G.,
RA George S.R., Torchia J., van Tol H.H.M., Niznik H.B.;
RT "Cloning of the gene for a human dopamine D5 receptor with higher affinity
RT for dopamine than D1.";
RL Nature 350:614-619(1991).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=1833775; DOI=10.1073/pnas.88.20.9175;
RA Grandy D.K., Zhang Y., Bouvier C., Zhou Q.-Y., Johnson R.A., Allen L.,
RA Buck K., Bunzow J.R., Salon J., Civelli O.;
RT "Multiple human D5 dopamine receptor genes: a functional receptor and two
RT pseudogenes.";
RL Proc. Natl. Acad. Sci. U.S.A. 88:9175-9179(1991).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, AND TISSUE SPECIFICITY.
RC TISSUE=Spleen;
RX PubMed=1834671; DOI=10.1016/s0021-9258(18)54590-7;
RA Weinshank R.L., Adham N., Macchi M., Olsen M.A., Branchek T.A.,
RA Hartig P.R.;
RT "Molecular cloning and characterization of a high affinity dopamine
RT receptor (D1 beta) and its pseudogene.";
RL J. Biol. Chem. 266:22427-22435(1991).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Puhl H.L. III, Ikeda S.R., Aronstam R.S.;
RT "cDNA clones of human proteins involved in signal transduction sequenced by
RT the Guthrie cDNA resource center (www.cdna.org).";
RL Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Amygdala;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Ovary;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [8]
RP GLYCOSYLATION AT ASN-7, AND MUTAGENESIS OF ASN-7.
RX PubMed=10531415; DOI=10.1124/mol.56.5.1071;
RA Karpa K.D., Lidow M.S., Pickering M.T., Levenson R., Bergson C.;
RT "N-linked glycosylation is required for plasma membrane localization of D5,
RT but not D1, dopamine receptors in transfected mammalian cells.";
RL Mol. Pharmacol. 56:1071-1078(1999).
RN [9]
RP INVOLVEMENT IN BEB.
RX PubMed=11781417; DOI=10.1212/wnl.58.1.124;
RA Misbahuddin A., Placzek M.R., Chaudhuri K.R., Wood N.W., Bhatia K.P.,
RA Warner T.T.;
RT "A polymorphism in the dopamine receptor DRD5 is associated with
RT blepharospasm.";
RL Neurology 58:124-126(2002).
RN [10]
RP VARIANTS VAL-269; GLN-330; ASP-351 AND CYS-453.
RX PubMed=7633397; DOI=10.1093/hmg/4.4.507;
RA Sobell J.L., Lind T.J., Sigurdson D.C., Zald D.H., Snitz B.E., Grove W.M.,
RA Heston L.L., Sommer S.S.;
RT "The D5 dopamine receptor gene in schizophrenia: identification of a
RT nonsense change and multiple missense changes but lack of association with
RT disease.";
RL Hum. Mol. Genet. 4:507-514(1995).
RN [11]
RP VARIANT ARG-88.
RX PubMed=10391209; DOI=10.1038/10290;
RA Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N.,
RA Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L.,
RA Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q.,
RA Lander E.S.;
RT "Characterization of single-nucleotide polymorphisms in coding regions of
RT human genes.";
RL Nat. Genet. 22:231-238(1999).
RN [12]
RP ERRATUM OF PUBMED:10391209.
RA Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N.,
RA Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L.,
RA Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q.,
RA Lander E.S.;
RL Nat. Genet. 23:373-373(1999).
CC -!- FUNCTION: Dopamine receptor whose activity is mediated by G proteins
CC which activate adenylyl cyclase. {ECO:0000269|PubMed:1834671}.
CC -!- INTERACTION:
CC P21918; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-12139313, EBI-22310682;
CC -!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
CC -!- TISSUE SPECIFICITY: Neuron-specific, localized primarily within limbic
CC regions of the brain. {ECO:0000269|PubMed:1834671}.
CC -!- DISEASE: Benign essential blepharospasm (BEB) [MIM:606798]: A primary
CC focal dystonia affecting the orbicularis oculi muscles. Dystonia is
CC defined by the presence of sustained involuntary muscle contraction,
CC often leading to abnormal postures. BEB usually begins in middle age.
CC Initial symptoms include eye irritation and frequent blinking,
CC progressing to involuntary spasms of eyelid closure. Patients have
CC normal eyes. The visual disturbance is due solely to the forced closure
CC of the eyelids. In severe cases, this can lead to functional blindness.
CC {ECO:0000269|PubMed:11781417}. Note=Disease susceptibility may be
CC associated with variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the G-protein coupled receptor 1 family.
CC {ECO:0000255|PROSITE-ProRule:PRU00521}.
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DR EMBL; X58454; CAA41360.1; -; Genomic_DNA.
DR EMBL; M67439; AAA52329.1; -; Genomic_DNA.
DR EMBL; AY136750; AAN01276.1; -; mRNA.
DR EMBL; AK313897; BAG36620.1; -; mRNA.
DR EMBL; CH471069; EAW92679.1; -; Genomic_DNA.
DR EMBL; BC009748; AAH09748.1; -; mRNA.
DR CCDS; CCDS3405.1; -.
DR PIR; S15080; DYHUD5.
DR RefSeq; NP_000789.1; NM_000798.4.
DR AlphaFoldDB; P21918; -.
DR SMR; P21918; -.
DR BioGRID; 108150; 7.
DR IntAct; P21918; 1.
DR STRING; 9606.ENSP00000306129; -.
DR BindingDB; P21918; -.
DR ChEMBL; CHEMBL1850; -.
DR DrugBank; DB00714; Apomorphine.
DR DrugBank; DB01238; Aripiprazole.
DR DrugBank; DB14185; Aripiprazole lauroxil.
DR DrugBank; DB01200; Bromocriptine.
DR DrugBank; DB00248; Cabergoline.
DR DrugBank; DB01038; Carphenazine.
DR DrugBank; DB00477; Chlorpromazine.
DR DrugBank; DB00568; Cinnarizine.
DR DrugBank; DB11274; Dihydro-alpha-ergocryptine.
DR DrugBank; DB13345; Dihydroergocristine.
DR DrugBank; DB00988; Dopamine.
DR DrugBank; DB11275; Epicriptine.
DR DrugBank; DB01049; Ergoloid mesylate.
DR DrugBank; DB00696; Ergotamine.
DR DrugBank; DB00800; Fenoldopam.
DR DrugBank; DB00458; Imipramine.
DR DrugBank; DB00555; Lamotrigine.
DR DrugBank; DB01235; Levodopa.
DR DrugBank; DB00589; Lisuride.
DR DrugBank; DB00408; Loxapine.
DR DrugBank; DB01403; Methotrimeprazine.
DR DrugBank; DB06148; Mianserin.
DR DrugBank; DB08804; Nandrolone decanoate.
DR DrugBank; DB00334; Olanzapine.
DR DrugBank; DB00715; Paroxetine.
DR DrugBank; DB01186; Pergolide.
DR DrugBank; DB11584; Pipradrol.
DR DrugBank; DB01224; Quetiapine.
DR DrugBank; DB09097; Quinagolide.
DR DrugBank; DB05271; Rotigotine.
DR DrugBank; DB00726; Trimipramine.
DR DrugBank; DB00246; Ziprasidone.
DR DrugBank; DB09225; Zotepine.
DR DrugBank; DB01624; Zuclopenthixol.
DR DrugCentral; P21918; -.
DR GuidetoPHARMACOLOGY; 218; -.
DR GlyGen; P21918; 2 sites.
DR iPTMnet; P21918; -.
DR PhosphoSitePlus; P21918; -.
DR BioMuta; DRD5; -.
DR DMDM; 118214; -.
DR jPOST; P21918; -.
DR MassIVE; P21918; -.
DR PaxDb; P21918; -.
DR PeptideAtlas; P21918; -.
DR PRIDE; P21918; -.
DR Antibodypedia; 9652; 427 antibodies from 39 providers.
DR DNASU; 1816; -.
DR Ensembl; ENST00000304374.4; ENSP00000306129.2; ENSG00000169676.6.
DR GeneID; 1816; -.
DR KEGG; hsa:1816; -.
DR MANE-Select; ENST00000304374.4; ENSP00000306129.2; NM_000798.5; NP_000789.1.
DR UCSC; uc003gmb.5; human.
DR CTD; 1816; -.
DR DisGeNET; 1816; -.
DR GeneCards; DRD5; -.
DR HGNC; HGNC:3026; DRD5.
DR HPA; ENSG00000169676; Tissue enhanced (brain, stomach).
DR MalaCards; DRD5; -.
DR MIM; 126453; gene.
DR MIM; 606798; phenotype.
DR neXtProt; NX_P21918; -.
DR OpenTargets; ENSG00000169676; -.
DR PharmGKB; PA148; -.
DR VEuPathDB; HostDB:ENSG00000169676; -.
DR eggNOG; KOG3656; Eukaryota.
DR GeneTree; ENSGT00940000157037; -.
DR HOGENOM; CLU_009579_11_0_1; -.
DR InParanoid; P21918; -.
DR OMA; NNLANWT; -.
DR OrthoDB; 1045889at2759; -.
DR PhylomeDB; P21918; -.
DR TreeFam; TF325181; -.
DR PathwayCommons; P21918; -.
DR Reactome; R-HSA-390651; Dopamine receptors.
DR Reactome; R-HSA-418555; G alpha (s) signalling events.
DR Reactome; R-HSA-9660821; ADORA2B mediated anti-inflammatory cytokines production.
DR SignaLink; P21918; -.
DR SIGNOR; P21918; -.
DR BioGRID-ORCS; 1816; 163 hits in 1066 CRISPR screens.
DR GeneWiki; Dopamine_receptor_D5; -.
DR GenomeRNAi; 1816; -.
DR Pharos; P21918; Tchem.
DR PRO; PR:P21918; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; P21918; protein.
DR Bgee; ENSG00000169676; Expressed in pancreatic ductal cell and 43 other tissues.
DR Genevisible; P21918; HS.
DR GO; GO:0031526; C:brush border membrane; IEA:Ensembl.
DR GO; GO:0060170; C:ciliary membrane; IDA:SYSCILIA_CCNET.
DR GO; GO:0005929; C:cilium; IDA:MGI.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0097730; C:non-motile cilium; IDA:SYSCILIA_CCNET.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0045202; C:synapse; IEA:GOC.
DR GO; GO:0035240; F:dopamine binding; IDA:UniProtKB.
DR GO; GO:0004952; F:dopamine neurotransmitter receptor activity; IDA:UniProtKB.
DR GO; GO:0001588; F:dopamine neurotransmitter receptor activity, coupled via Gs; IBA:GO_Central.
DR GO; GO:0004930; F:G protein-coupled receptor activity; IBA:GO_Central.
DR GO; GO:0007190; P:activation of adenylate cyclase activity; TAS:BHF-UCL.
DR GO; GO:0071880; P:adenylate cyclase-activating adrenergic receptor signaling pathway; IBA:GO_Central.
DR GO; GO:0007191; P:adenylate cyclase-activating dopamine receptor signaling pathway; IDA:UniProtKB.
DR GO; GO:0007189; P:adenylate cyclase-activating G protein-coupled receptor signaling pathway; IDA:UniProtKB.
DR GO; GO:0008306; P:associative learning; IEA:Ensembl.
DR GO; GO:0006874; P:cellular calcium ion homeostasis; TAS:BHF-UCL.
DR GO; GO:0071870; P:cellular response to catecholamine stimulus; IDA:BHF-UCL.
DR GO; GO:0007268; P:chemical synaptic transmission; NAS:UniProtKB.
DR GO; GO:0007212; P:dopamine receptor signaling pathway; IBA:GO_Central.
DR GO; GO:0060292; P:long-term synaptic depression; IEA:Ensembl.
DR GO; GO:0045776; P:negative regulation of blood pressure; IEA:Ensembl.
DR GO; GO:0033861; P:negative regulation of NAD(P)H oxidase activity; IDA:UniProtKB.
DR GO; GO:0001994; P:norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure; IEA:Ensembl.
DR GO; GO:0060158; P:phospholipase C-activating dopamine receptor signaling pathway; TAS:BHF-UCL.
DR GO; GO:0045762; P:positive regulation of adenylate cyclase activity; NAS:UniProtKB.
DR GO; GO:0072593; P:reactive oxygen species metabolic process; IDA:UniProtKB.
DR GO; GO:0045924; P:regulation of female receptivity; IEA:Ensembl.
DR GO; GO:0001992; P:regulation of systemic arterial blood pressure by vasopressin; IEA:Ensembl.
DR GO; GO:0001975; P:response to amphetamine; IEA:Ensembl.
DR GO; GO:0042220; P:response to cocaine; IEA:Ensembl.
DR GO; GO:0046960; P:sensitization; IEA:Ensembl.
DR GO; GO:0001963; P:synaptic transmission, dopaminergic; NAS:UniProtKB.
DR GO; GO:0019226; P:transmission of nerve impulse; IEA:Ensembl.
DR GO; GO:0042060; P:wound healing; IEA:Ensembl.
DR InterPro; IPR000497; Dopamine_D5_rcpt.
DR InterPro; IPR000929; Dopamine_rcpt.
DR InterPro; IPR000276; GPCR_Rhodpsn.
DR InterPro; IPR017452; GPCR_Rhodpsn_7TM.
DR Pfam; PF00001; 7tm_1; 1.
DR PRINTS; PR00566; DOPAMINED1BR.
DR PRINTS; PR00242; DOPAMINER.
DR PRINTS; PR00237; GPCRRHODOPSN.
DR SMART; SM01381; 7TM_GPCR_Srsx; 1.
DR PROSITE; PS00237; G_PROTEIN_RECEP_F1_1; 1.
DR PROSITE; PS50262; G_PROTEIN_RECEP_F1_2; 1.
PE 1: Evidence at protein level;
KW Cell membrane; Disulfide bond; Dystonia; G-protein coupled receptor;
KW Glycoprotein; Lipoprotein; Membrane; Palmitate; Receptor;
KW Reference proteome; Transducer; Transmembrane; Transmembrane helix.
FT CHAIN 1..477
FT /note="D(1B) dopamine receptor"
FT /id="PRO_0000069405"
FT TOPO_DOM 1..39
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 40..66
FT /note="Helical; Name=1"
FT /evidence="ECO:0000255"
FT TOPO_DOM 67..77
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 78..104
FT /note="Helical; Name=2"
FT /evidence="ECO:0000255"
FT TOPO_DOM 105..114
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 115..136
FT /note="Helical; Name=3"
FT /evidence="ECO:0000255"
FT TOPO_DOM 137..158
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 159..180
FT /note="Helical; Name=4"
FT /evidence="ECO:0000255"
FT TOPO_DOM 181..223
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 224..246
FT /note="Helical; Name=5"
FT /evidence="ECO:0000255"
FT TOPO_DOM 247..296
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 297..320
FT /note="Helical; Name=6"
FT /evidence="ECO:0000255"
FT TOPO_DOM 321..340
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 341..360
FT /note="Helical; Name=7"
FT /evidence="ECO:0000255"
FT TOPO_DOM 361..477
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT LIPID 375
FT /note="S-palmitoyl cysteine"
FT /evidence="ECO:0000250"
FT CARBOHYD 7
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:10531415"
FT CARBOHYD 222
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 113..217
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00521"
FT VARIANT 62
FT /note="C -> S (in dbSNP:rs2227840)"
FT /id="VAR_029210"
FT VARIANT 88
FT /note="L -> R (in dbSNP:rs6282)"
FT /evidence="ECO:0000269|PubMed:10391209"
FT /id="VAR_011837"
FT VARIANT 110
FT /note="G -> E (in dbSNP:rs2227849)"
FT /id="VAR_029211"
FT VARIANT 207
FT /note="F -> V (in dbSNP:rs2227845)"
FT /id="VAR_029212"
FT VARIANT 233
FT /note="S -> N (in dbSNP:rs2227843)"
FT /id="VAR_029213"
FT VARIANT 238
FT /note="V -> I (in dbSNP:rs2227852)"
FT /id="VAR_024254"
FT VARIANT 269
FT /note="A -> V (in dbSNP:rs538877978)"
FT /evidence="ECO:0000269|PubMed:7633397"
FT /id="VAR_003458"
FT VARIANT 286
FT /note="A -> V (in dbSNP:rs2227850)"
FT /id="VAR_029215"
FT VARIANT 297
FT /note="T -> P (in dbSNP:rs2227851)"
FT /id="VAR_061217"
FT VARIANT 330
FT /note="P -> Q (in dbSNP:rs1800762)"
FT /evidence="ECO:0000269|PubMed:7633397"
FT /id="VAR_003459"
FT VARIANT 351
FT /note="N -> D (in dbSNP:rs1577263526)"
FT /evidence="ECO:0000269|PubMed:7633397"
FT /id="VAR_003460"
FT VARIANT 453
FT /note="S -> C (in dbSNP:rs776114395)"
FT /evidence="ECO:0000269|PubMed:7633397"
FT /id="VAR_003461"
FT MUTAGEN 7
FT /note="N->Q: Impairs subcellular location."
FT /evidence="ECO:0000269|PubMed:10531415"
SQ 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
