GPR88_HUMAN
ID GPR88_HUMAN Reviewed; 384 AA.
AC Q9GZN0; Q29S24; Q6VN48;
DT 29-MAR-2005, integrated into UniProtKB/Swiss-Prot.
DT 24-MAR-2009, sequence version 2.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Probable G-protein coupled receptor 88;
DE AltName: Full=Striatum-specific G-protein coupled receptor;
GN Name=GPR88; Synonyms=STRG;
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 / MRNA], TISSUE SPECIFICITY, AND VARIANTS
RP ILE-190 AND HIS-318.
RX PubMed=11056049; DOI=10.1006/geno.2000.6340;
RA Mizushima K., Miyamoto Y., Tsukahara F., Hirai M., Sakaki Y., Ito T.;
RT "A novel G-protein-coupled receptor gene expressed in striatum.";
RL Genomics 69:314-321(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ILE-190.
RA Kopatz S.A., Aronstam R.S., Sharma S.V.;
RT "cDNA clones of human proteins involved in signal transduction sequenced by
RT the Guthrie cDNA resource center (www.cdna.org).";
RL Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-357.
RC TISSUE=Brain;
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 [5]
RP INVOLVEMENT IN COCPMR.
RX PubMed=27123486; DOI=10.1212/nxg.0000000000000064;
RA Alkufri F., Shaag A., Abu-Libdeh B., Elpeleg O.;
RT "Deleterious mutation in GPR88 is associated with chorea, speech delay, and
RT learning disabilities.";
RL Neurol. Genet. 2:E64-E64(2016).
CC -!- FUNCTION: Probable G-protein coupled receptor implicated in a large
CC repertoire of behavioral responses that engage motor activities,
CC spatial learning, and emotional processing. May play a role in the
CC regulation of cognitive and motor function.
CC {ECO:0000250|UniProtKB:Q9EPB7, ECO:0000250|UniProtKB:Q9ESP4}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q9ESP4};
CC Multi-pass membrane protein {ECO:0000255}. Cytoplasm
CC {ECO:0000250|UniProtKB:Q9ESP4}. Nucleus {ECO:0000250|UniProtKB:Q9ESP4}.
CC Note=During cortical lamination, subcellular location shifts, on the
CC day of birth, from expression at the plasma membrane and in the
CC cytoplasm to the nuclei of neurons. This intranuclear localization
CC remains throughout adulthood. {ECO:0000250|UniProtKB:Q9ESP4}.
CC -!- TISSUE SPECIFICITY: Expressed predominantly in the striatum.
CC {ECO:0000269|PubMed:11056049}.
CC -!- DISEASE: Chorea, childhood-onset, with psychomotor retardation (COCPMR)
CC [MIM:616939]: An autosomal recessive neurodevelopmental disorder
CC characterized by abnormal involuntary movements, marked speech delay,
CC intellectual disability and learning difficulties.
CC {ECO:0000269|PubMed:27123486}. Note=The disease is caused by variants
CC 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; AB042410; BAB18247.1; -; mRNA.
DR EMBL; AB042411; BAB18248.1; -; Genomic_DNA.
DR EMBL; AY336999; AAQ76787.1; -; Genomic_DNA.
DR EMBL; AC099670; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC036775; AAH36775.1; -; mRNA.
DR CCDS; CCDS772.1; -.
DR RefSeq; NP_071332.2; NM_022049.2.
DR PDB; 7EJX; EM; 2.40 A; R=1-384.
DR PDBsum; 7EJX; -.
DR AlphaFoldDB; Q9GZN0; -.
DR SMR; Q9GZN0; -.
DR BioGRID; 119908; 15.
DR STRING; 9606.ENSP00000314223; -.
DR BindingDB; Q9GZN0; -.
DR ChEMBL; CHEMBL3399910; -.
DR GuidetoPHARMACOLOGY; 123; -.
DR GlyGen; Q9GZN0; 1 site.
DR iPTMnet; Q9GZN0; -.
DR PhosphoSitePlus; Q9GZN0; -.
DR BioMuta; GPR88; -.
DR DMDM; 229464740; -.
DR MassIVE; Q9GZN0; -.
DR PaxDb; Q9GZN0; -.
DR PeptideAtlas; Q9GZN0; -.
DR PRIDE; Q9GZN0; -.
DR Antibodypedia; 19999; 206 antibodies from 26 providers.
DR DNASU; 54112; -.
DR Ensembl; ENST00000315033.5; ENSP00000314223.4; ENSG00000181656.7.
DR GeneID; 54112; -.
DR KEGG; hsa:54112; -.
DR MANE-Select; ENST00000315033.5; ENSP00000314223.4; NM_022049.3; NP_071332.2.
DR UCSC; uc001dth.4; human.
DR CTD; 54112; -.
DR DisGeNET; 54112; -.
DR GeneCards; GPR88; -.
DR HGNC; HGNC:4539; GPR88.
DR HPA; ENSG00000181656; Tissue enriched (brain).
DR MalaCards; GPR88; -.
DR MIM; 607468; gene.
DR MIM; 616939; phenotype.
DR neXtProt; NX_Q9GZN0; -.
DR OpenTargets; ENSG00000181656; -.
DR PharmGKB; PA28932; -.
DR VEuPathDB; HostDB:ENSG00000181656; -.
DR eggNOG; KOG3656; Eukaryota.
DR GeneTree; ENSGT00390000009609; -.
DR HOGENOM; CLU_053532_0_0_1; -.
DR InParanoid; Q9GZN0; -.
DR OMA; LLYTWKN; -.
DR OrthoDB; 1437332at2759; -.
DR PhylomeDB; Q9GZN0; -.
DR TreeFam; TF336499; -.
DR PathwayCommons; Q9GZN0; -.
DR BioGRID-ORCS; 54112; 8 hits in 1056 CRISPR screens.
DR GeneWiki; GPR88; -.
DR GenomeRNAi; 54112; -.
DR Pharos; Q9GZN0; Tchem.
DR PRO; PR:Q9GZN0; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9GZN0; protein.
DR Bgee; ENSG00000181656; Expressed in lateral globus pallidus and 98 other tissues.
DR Genevisible; Q9GZN0; HS.
DR GO; GO:0005929; C:cilium; IDA:MGI.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; ISS:UniProtKB.
DR GO; GO:0003774; F:cytoskeletal motor activity; ISS:UniProtKB.
DR GO; GO:0008020; F:G protein-coupled photoreceptor activity; IBA:GO_Central.
DR GO; GO:0071482; P:cellular response to light stimulus; IBA:GO_Central.
DR GO; GO:0007186; P:G protein-coupled receptor signaling pathway; IBA:GO_Central.
DR GO; GO:0007626; P:locomotory behavior; IEA:Ensembl.
DR GO; GO:0061743; P:motor learning; ISS:UniProtKB.
DR GO; GO:0050885; P:neuromuscular process controlling balance; IEA:Ensembl.
DR GO; GO:0019228; P:neuronal action potential; IEA:Ensembl.
DR GO; GO:0007602; P:phototransduction; IBA:GO_Central.
DR InterPro; IPR000276; GPCR_Rhodpsn.
DR InterPro; IPR017452; GPCR_Rhodpsn_7TM.
DR Pfam; PF00001; 7tm_1; 1.
DR PRINTS; PR00237; GPCRRHODOPSN.
DR PROSITE; PS50262; G_PROTEIN_RECEP_F1_2; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Cell membrane; Cytoplasm; G-protein coupled receptor;
KW Glycoprotein; Intellectual disability; Membrane; Nucleus; Receptor;
KW Reference proteome; Transducer; Transmembrane; Transmembrane helix.
FT CHAIN 1..384
FT /note="Probable G-protein coupled receptor 88"
FT /id="PRO_0000069597"
FT TOPO_DOM 1..35
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 36..56
FT /note="Helical; Name=1"
FT /evidence="ECO:0000255"
FT TOPO_DOM 57..73
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 74..94
FT /note="Helical; Name=2"
FT /evidence="ECO:0000255"
FT TOPO_DOM 95..116
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 117..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..179
FT /note="Helical; Name=4"
FT /evidence="ECO:0000255"
FT TOPO_DOM 180..195
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 196..216
FT /note="Helical; Name=5"
FT /evidence="ECO:0000255"
FT TOPO_DOM 217..285
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 286..306
FT /note="Helical; Name=6"
FT /evidence="ECO:0000255"
FT TOPO_DOM 307..310
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 311..331
FT /note="Helical; Name=7"
FT /evidence="ECO:0000255"
FT TOPO_DOM 332..384
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT CARBOHYD 3
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 190
FT /note="V -> I (in dbSNP:rs2809819)"
FT /evidence="ECO:0000269|PubMed:11056049, ECO:0000269|Ref.2"
FT /id="VAR_054767"
FT VARIANT 318
FT /note="Q -> H (in dbSNP:rs3001995)"
FT /evidence="ECO:0000269|PubMed:11056049"
FT /id="VAR_054768"
SQ SEQUENCE 384 AA; 40246 MW; 2BCB6B1B9691B455 CRC64;
MTNSSSTSTS STTGGSLLLL CEEEESWAGR RIPVSLLYSG LAIGGTLANG MVIYLVSSFR
KLQTTSNAFI VNGCAADLSV CALWMPQEAV LGLLPTGSAE PPADWDGAGG SYRLLRGGLL
GLGLTVSLLS HCLVALNRYL LITRAPATYQ ALYQRRHTAG MLALSWALAL GLVLLLPPWA
PRPGAAPPRV HYPALLAAAA LLAQTALLLH CYLGIVRRVR VSVKRVSVLN FHLLHQLPGC
AAAAAAFPGA QHAPGPGGAA HPAQAQPLPP ALHPRRAQRR LSGLSVLLLC CVFLLATQPL
VWVSLASGFS LPVPWGVQAA SWLLCCALSA LNPLLYTWRN EEFRRSVRSV LPGVGDAAAA
AVAATAVPAV SQAQLGTRAA GQHW
