GP179_HUMAN
ID GP179_HUMAN Reviewed; 2367 AA.
AC Q6PRD1;
DT 10-JAN-2006, integrated into UniProtKB/Swiss-Prot.
DT 10-JAN-2006, sequence version 2.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Probable G-protein coupled receptor 179;
DE AltName: Full=Probable G-protein coupled receptor 158-like 1;
DE Short=GPR158-like;
DE Flags: Precursor;
GN Name=GPR179; Synonyms=GPR158L, GPR158L1;
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 [MRNA].
RC TISSUE=Pituitary;
RA Bonner T.I., Nagle J.W., Kauffman D., Kozhich O.;
RT "Complete coding sequence of GPR158L1.";
RL Submitted (MAR-2004) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP TISSUE SPECIFICITY, AND VARIANTS CSNB1E HIS-126; ASP-455 AND TYR-603.
RX PubMed=22325361; DOI=10.1016/j.ajhg.2011.12.007;
RA Audo I., Bujakowska K., Orhan E., Poloschek C.M., Defoort-Dhellemmes S.,
RA Drumare I., Kohl S., Luu T.D., Lecompte O., Zrenner E., Lancelot M.E.,
RA Antonio A., Germain A., Michiels C., Audier C., Letexier M., Saraiva J.P.,
RA Leroy B.P., Munier F.L., Mohand-Said S., Lorenz B., Friedburg C.,
RA Preising M., Kellner U., Renner A.B., Moskova-Doumanova V., Berger W.,
RA Wissinger B., Hamel C.P., Schorderet D.F., De Baere E., Sharon D.,
RA Banin E., Jacobson S.G., Bonneau D., Zanlonghi X., Le Meur G., Casteels I.,
RA Koenekoop R., Long V.W., Meire F., Prescott K., de Ravel T., Simmons I.,
RA Nguyen H., Dollfus H., Poch O., Leveillard T., Nguyen-Ba-Charvet K.,
RA Sahel J.A., Bhattacharya S.S., Zeitz C.;
RT "Whole-exome sequencing identifies mutations in GPR179 leading to
RT autosomal-recessive complete congenital stationary night blindness.";
RL Am. J. Hum. Genet. 90:321-330(2012).
RN [4]
RP FUNCTION, AND VARIANT CSNB1E CYS-220.
RX PubMed=22325362; DOI=10.1016/j.ajhg.2011.12.006;
RA Peachey N.S., Ray T.A., Florijn R., Rowe L.B., Sjoerdsma T.,
RA Contreras-Alcantara S., Baba K., Tosini G., Pozdeyev N., Iuvone P.M.,
RA Bojang P. Jr., Pearring J.N., Simonsz H.J., van Genderen M., Birch D.G.,
RA Traboulsi E.I., Dorfman A., Lopez I., Ren H., Goldberg A.F., Nishina P.M.,
RA Lachapelle P., McCall M.A., Koenekoop R.K., Bergen A.A., Kamermans M.,
RA Gregg R.G.;
RT "GPR179 is required for depolarizing bipolar cell function and is mutated
RT in autosomal-recessive complete congenital stationary night blindness.";
RL Am. J. Hum. Genet. 90:331-339(2012).
CC -!- FUNCTION: Orphan receptor, involved in vision. Required for signal
CC transduction through retinal depolarizing bipolar cells.
CC {ECO:0000269|PubMed:22325362}.
CC -!- INTERACTION:
CC Q6PRD1; Q63HQ2: EGFLAM; NbExp=3; IntAct=EBI-20895185, EBI-21327031;
CC Q6PRD1; P35052: GPC1; NbExp=2; IntAct=EBI-20895185, EBI-8307554;
CC Q6PRD1; P78333: GPC5; NbExp=2; IntAct=EBI-20895185, EBI-2558325;
CC Q6PRD1; P31431: SDC4; NbExp=2; IntAct=EBI-20895185, EBI-3913237;
CC Q6PRD1; Q4VBE4: Egflam; Xeno; NbExp=3; IntAct=EBI-20895185, EBI-2025048;
CC -!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
CC -!- TISSUE SPECIFICITY: Expressed in the retina.
CC {ECO:0000269|PubMed:22325361}.
CC -!- DISEASE: Night blindness, congenital stationary, 1E (CSNB1E)
CC [MIM:614565]: An autosomal recessive, non-progressive retinal disorder
CC characterized by impaired night vision, absence of the
CC electroretinogram (ERG) b-wave, and variable degrees of involvement of
CC other visual functions. Affected individuals have an ERG waveform that
CC lacks the b-wave because of failure to transmit the photoreceptor
CC signal through the retinal depolarizing bipolar cells.
CC {ECO:0000269|PubMed:22325361, ECO:0000269|PubMed:22325362}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the G-protein coupled receptor 3 family.
CC {ECO:0000305}.
CC -!- WEB RESOURCE: Name=G protein-coupled receptor 179 (GPR179); Note=Leiden
CC Open Variation Database (LOVD);
CC URL="https://databases.lovd.nl/shared/genes/GPR179";
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DR EMBL; AY584611; AAS91740.1; -; mRNA.
DR EMBL; AC115992; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS42308.1; -.
DR RefSeq; NP_001004334.3; NM_001004334.3.
DR AlphaFoldDB; Q6PRD1; -.
DR SMR; Q6PRD1; -.
DR BioGRID; 136572; 2.
DR IntAct; Q6PRD1; 15.
DR MINT; Q6PRD1; -.
DR STRING; 9606.ENSP00000483469; -.
DR GlyGen; Q6PRD1; 2 sites.
DR iPTMnet; Q6PRD1; -.
DR PhosphoSitePlus; Q6PRD1; -.
DR BioMuta; GPR179; -.
DR DMDM; 85540945; -.
DR EPD; Q6PRD1; -.
DR MassIVE; Q6PRD1; -.
DR PaxDb; Q6PRD1; -.
DR PeptideAtlas; Q6PRD1; -.
DR PRIDE; Q6PRD1; -.
DR ProteomicsDB; 67258; -.
DR DNASU; 440435; -.
DR Ensembl; ENST00000610650.1; ENSP00000484951.1; ENSG00000276469.1.
DR GeneID; 440435; -.
DR KEGG; hsa:440435; -.
DR UCSC; uc032gkv.1; human.
DR CTD; 440435; -.
DR DisGeNET; 440435; -.
DR GeneCards; GPR179; -.
DR HGNC; HGNC:31371; GPR179.
DR MalaCards; GPR179; -.
DR MIM; 614515; gene.
DR MIM; 614565; phenotype.
DR neXtProt; NX_Q6PRD1; -.
DR Orphanet; 215; Congenital stationary night blindness.
DR PharmGKB; PA134900696; -.
DR eggNOG; KOG4418; Eukaryota.
DR InParanoid; Q6PRD1; -.
DR OrthoDB; 63351at2759; -.
DR PhylomeDB; Q6PRD1; -.
DR TreeFam; TF319114; -.
DR PathwayCommons; Q6PRD1; -.
DR SignaLink; Q6PRD1; -.
DR BioGRID-ORCS; 440435; 36 hits in 1054 CRISPR screens.
DR GeneWiki; GPR179; -.
DR GenomeRNAi; 440435; -.
DR Pharos; Q6PRD1; Tdark.
DR PRO; PR:Q6PRD1; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q6PRD1; protein.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0004930; F:G protein-coupled receptor activity; IEA:UniProtKB-KW.
DR GO; GO:0007601; P:visual perception; IMP:UniProtKB.
DR InterPro; IPR017978; GPCR_3_C.
DR InterPro; IPR043458; GPR158/179.
DR InterPro; IPR032964; GPR179.
DR PANTHER; PTHR32546; PTHR32546; 3.
DR PANTHER; PTHR32546:SF7; PTHR32546:SF7; 3.
DR Pfam; PF00003; 7tm_3; 1.
DR PROSITE; PS50259; G_PROTEIN_RECEP_F3_4; 1.
PE 1: Evidence at protein level;
KW Cell membrane; Congenital stationary night blindness; Disease variant;
KW G-protein coupled receptor; Glycoprotein; Membrane; Receptor;
KW Reference proteome; Sensory transduction; Signal; Transducer;
KW Transmembrane; Transmembrane helix; Vision.
FT SIGNAL 1..25
FT /evidence="ECO:0000255"
FT CHAIN 26..2367
FT /note="Probable G-protein coupled receptor 179"
FT /id="PRO_0000045397"
FT TOPO_DOM 26..381
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 382..402
FT /note="Helical; Name=1"
FT /evidence="ECO:0000255"
FT TOPO_DOM 403..415
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 416..436
FT /note="Helical; Name=2"
FT /evidence="ECO:0000255"
FT TOPO_DOM 437..444
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 445..465
FT /note="Helical; Name=3"
FT /evidence="ECO:0000255"
FT TOPO_DOM 466..493
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 494..514
FT /note="Helical; Name=4"
FT /evidence="ECO:0000255"
FT TOPO_DOM 515..543
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 544..564
FT /note="Helical; Name=5"
FT /evidence="ECO:0000255"
FT TOPO_DOM 565..575
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 576..594
FT /note="Helical; Name=6"
FT /evidence="ECO:0000255"
FT TOPO_DOM 595..607
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 608..628
FT /note="Helical; Name=7"
FT /evidence="ECO:0000255"
FT TOPO_DOM 629..2367
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 731..818
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 869..932
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1039..1083
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1098..1198
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1247..1431
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1537..1557
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1577..1672
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1723..1757
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1823..1852
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1886..2108
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2133..2212
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2308..2367
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 738..764
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 772..804
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 916..930
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1041..1071
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1148..1169
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1170..1197
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1281..1322
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1341..1364
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1384..1418
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1614..1637
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1836..1852
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1890..1904
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1906..1922
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1933..1952
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2029..2068
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2328..2346
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 75
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 298
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 126
FT /note="D -> H (in CSNB1E; dbSNP:rs281875233)"
FT /evidence="ECO:0000269|PubMed:22325361"
FT /id="VAR_067925"
FT VARIANT 220
FT /note="Y -> C (in CSNB1E; dbSNP:rs281875236)"
FT /evidence="ECO:0000269|PubMed:22325362"
FT /id="VAR_067926"
FT VARIANT 455
FT /note="G -> D (in CSNB1E; dbSNP:rs281875235)"
FT /evidence="ECO:0000269|PubMed:22325361"
FT /id="VAR_067927"
FT VARIANT 603
FT /note="H -> Y (in CSNB1E; dbSNP:rs281875234)"
FT /evidence="ECO:0000269|PubMed:22325361"
FT /id="VAR_067928"
FT VARIANT 1150
FT /note="K -> E (in dbSNP:rs55727040)"
FT /id="VAR_061204"
FT VARIANT 1176
FT /note="Q -> E (in dbSNP:rs4399578)"
FT /id="VAR_049287"
FT VARIANT 1381
FT /note="C -> R (in dbSNP:rs4398144)"
FT /id="VAR_049288"
FT VARIANT 1869
FT /note="Q -> E (in dbSNP:rs4399578)"
FT /id="VAR_049289"
SQ SEQUENCE 2367 AA; 257363 MW; 882ABAAED71B2EF0 CRC64;
MGTRGAVMPP PMWGLLGCCF VCAWALGGPR PIRSLPPLSS QVKPGSVPMQ VPLEGAEAAL
AYLYSGDAQQ LSQVNCSERY EARGAGAMPG LPPSLQGAAG TLAQAANFLN MLLQANDIRE
SSVEEDVEWY QALVRSVAEG DPRVYRALLT FNPPPGASHL QLALQATRTG EETILQDLSG
NWVQEENPPG DLDTPALKKR VLTNDLGSLG SPKWPQADGY VGDTQQVRLS PPFLECQEGR
LRPGWLITLS ATFYGLKPDL SPEVRGQVQM DVDLQSVDIN QCASGPGWYS NTHLCDLNST
QCVPLESQGF VLGRYLCRCR PGFYGASPSG GLEESDFQTT GQFGFPEGRS GRLLQCLPCP
EGCTSCMDAT PCLVEEAAVL RAAVLACQAC CMLAIFLSML VSYRCRRNKR IWASGVVLLE
TVLFGFLLLY FPVFILYFKP SVFRCIALRW VRLLGFAIVY GTIILKLYRV LQLFLSRTAQ
RSALLSSGRL LRRLGLLLLP VLGFLAVWTV GALERGIQHA PLVIRGHTPS GRHFYLCHHD
RWDYIMVVAE LLLLCWGSFL CYATRAVLSA FHEPRYMGIA LHNELLLSAA FHTARFVLVP
SLHPDWTLLL FFFHTHSTVT TTLALIFIPK FWKLGAPPRE EMVDEVCEDE LDLQHSGSYL
GSSIASAWSE HSLDPGDIRD ELKKLYAQLE VHKTKEMAAN NPHLPKKRGS SCQGLGRSFM
RYLAEFPEAL ARQHSRDSGS PGHGSLPGSS RRRLLSSSLQ EPEGTPALHK SRSTYDQRRE
QDPPLLDSLL RRKLAKKASR TESRESVEGP PALGFRSASA HNLTVGERLP RARPASLQKS
LSVASSREKA LLMASQAYLE ETYRQAKERE ERKKAKAAMA SLVRRPSARR LERPRGAPLS
APPSPAKSSS VDSSHTSGRL HEEARRRLPH PPIRHQVSTP ILALSGGLGE PRMLSPTSTL
APALLPALAP TPAPALAPVP VSPQSPNLLT YICPWENAEL PAKQENVPQE GPSGPERGHH
SPAPARARLW RALSVAVEKS RAGENEMDAE DAHHQREAND VDEDRPKIFP KSHSLKAPVQ
QGSMRSLGLA IKALTRSRST YREKESVEES PEGQNSGTAG ESMGAPSRSP RLGRPKAVSK
QAALIPSDDK ESLQNQQNAH TSRMLQVCQR EGSREQEDRG RRMTQGLGER KAERAGKTGL
AMLRQVSRDK NIKQSKETPV GWQELPKAGL QSLGSADHRV AEVCPWEVTE SETRQPDSGN
KAEICPWETS EGAPESRALR QDPGDSQKKR GEARGKSEPI DVVPMMRKKP ERLVREQEAV
CPWESADRGG LSPGSAPQDP GRIRDKSEAG DSVEARKVEK PGWEAAGPEA HTPDITKAEP
CPWEASEGGE DGKPAQEAVK DLPQEKQKTR KATFWKEQKP GGDLESLCPW ESTDFRGPSA
VSIQAPGSSE CSGSLGSGIA EVCLWEAGDA PAIQKAEICP WELDDNVMGQ EMLSLGTGRE
SLQEKEKASR KGSFGEMGEQ TVKAVQKLSQ QQESVCPRES TVPGHSSPCL DNSSSKAGSQ
FLCNGGSRAT QVCPQEDLRP EAQEATPAKT EICPWEVNER TREEWTSAQV PRGGESQKDK
EKMPGKSEIE DVTAWEKPEG QIQKQEAVGP WESVDPGSFS PQPRPQDTER PQTLLQMSGS
VGSKAADICP LDVEENLTAG KAEICPWEVG AGAGEERALG AEAIRKSPND TGKVSADLGP
RERAVTAPEK PQKPTPEWEV ACPWGSVGPG ACSQHPGTLD ADGPKAGFQE LDHMGCRPGE
VCPWEAQEAA TSEKAKICPW EVSEGTTGKG LDQKAGSESA EQREKALEKG RLTSLGEDVS
KGMAKLCQQQ ETICIWENKD LRESPAQAPK ISDLPSSMSS EVAEGHSLEA TEKGDLRQDP
KTGSFPEHIT QEKAPAADTE EFTTEDGEKT SHELQSVCPW ETTAPADSVS HLDRQRPDQP
KASSQRLVST GGRAADVCPW DVPDAGVYKS DSSAKAETCP WEVTERIPVK GVSRQDGKGD
SQEEKGRAPE KSEPKGVPVQ KKPEMADFRQ QEAVCPWESQ DGKGLSPQPA PDASDRSRGS
SEAAGSVETR VAEVCLWEVV EAPSAKKAEI CPWEAGGGAA EEGEQERESQ GQGEMFLQKA
GPGGTEEHFS KAAAKPREQE AVCPGEGTGS GGLLPQSGAL DPELKVSPKE AGSMGSRMAE
LCQWEITDPE GNKIKGTMAD ICPGEETGVP SEESGLLALT ATRREFFPTA PEKPLCLLVH
GPLDHFFPES KIPCPKVSRP ASTFTLEGVR ELQGPSGLEP RTSLAPEPSL QEAESQSSSL
TEDSGQVAFE AQYEEFTPPT VYPWDWE
