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Protein

Probable G-protein coupled receptor 179

Gene

GPR179

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Orphan receptor, involved in vision. Required for signal transduction through retinal depolarizing bipolar cells.1 Publication

GO - Molecular functioni

GO - Biological processi

  • G-protein coupled receptor signaling pathway Source: GO_Central
  • visual perception Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

G-protein coupled receptor, Receptor, Transducer

Keywords - Biological processi

Sensory transduction, Vision

Names & Taxonomyi

Protein namesi
Recommended name:
Probable G-protein coupled receptor 179
Alternative name(s):
Probable G-protein coupled receptor 158-like 1
Short name:
GPR158-like
Gene namesi
Name:GPR179
Synonyms:GPR158L, GPR158L1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:31371. GPR179.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini26 – 381356ExtracellularSequence analysisAdd
BLAST
Transmembranei382 – 40221Helical; Name=1Sequence analysisAdd
BLAST
Topological domaini403 – 41513CytoplasmicSequence analysisAdd
BLAST
Transmembranei416 – 43621Helical; Name=2Sequence analysisAdd
BLAST
Topological domaini437 – 4448ExtracellularSequence analysis
Transmembranei445 – 46521Helical; Name=3Sequence analysisAdd
BLAST
Topological domaini466 – 49328CytoplasmicSequence analysisAdd
BLAST
Transmembranei494 – 51421Helical; Name=4Sequence analysisAdd
BLAST
Topological domaini515 – 54329ExtracellularSequence analysisAdd
BLAST
Transmembranei544 – 56421Helical; Name=5Sequence analysisAdd
BLAST
Topological domaini565 – 57511CytoplasmicSequence analysisAdd
BLAST
Transmembranei576 – 59419Helical; Name=6Sequence analysisAdd
BLAST
Topological domaini595 – 60713ExtracellularSequence analysisAdd
BLAST
Transmembranei608 – 62821Helical; Name=7Sequence analysisAdd
BLAST
Topological domaini629 – 23671739CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Night blindness, congenital stationary, 1E (CSNB1E)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, non-progressive retinal disorder characterized by impaired night vision, absence of the electroretinogram (ERG) b-wave, and variable degrees of involvement of other visual functions. Affected individuals have an ERG waveform that lacks the b-wave because of failure to transmit the photoreceptor signal through the retinal depolarizing bipolar cells.
See also OMIM:614565
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti126 – 1261D → H in CSNB1E. 1 Publication
Corresponds to variant rs281875233 [ dbSNP | Ensembl ].
VAR_067925
Natural varianti220 – 2201Y → C in CSNB1E. 1 Publication
Corresponds to variant rs281875236 [ dbSNP | Ensembl ].
VAR_067926
Natural varianti455 – 4551G → D in CSNB1E. 1 Publication
Corresponds to variant rs281875235 [ dbSNP | Ensembl ].
VAR_067927
Natural varianti603 – 6031H → Y in CSNB1E. 1 Publication
Corresponds to variant rs281875234 [ dbSNP | Ensembl ].
VAR_067928

Keywords - Diseasei

Congenital stationary night blindness, Disease mutation

Organism-specific databases

MalaCardsiGPR179.
MIMi614565. phenotype.
Orphaneti215. Congenital stationary night blindness.
PharmGKBiPA134900696.

Polymorphism and mutation databases

BioMutaiGPR179.
DMDMi85540945.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2525Sequence analysisAdd
BLAST
Chaini26 – 23672342Probable G-protein coupled receptor 179PRO_0000045397Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi75 – 751N-linked (GlcNAc...)Sequence analysis
Glycosylationi298 – 2981N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ6PRD1.
PaxDbiQ6PRD1.
PRIDEiQ6PRD1.

PTM databases

iPTMnetiQ6PRD1.
PhosphoSiteiQ6PRD1.

Expressioni

Tissue specificityi

Expressed in the retina.1 Publication

Gene expression databases

BgeeiQ6PRD1.
CleanExiHS_GPR179.

Organism-specific databases

HPAiHPA017885.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000345060.

Structurei

3D structure databases

ProteinModelPortaliQ6PRD1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi494 – 4996Poly-Leu
Compositional biasi551 – 5544Poly-Leu

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4418. Eukaryota.
ENOG410XXEC. LUCA.
HOGENOMiHOG000015342.
HOVERGENiHBG081570.
InParanoidiQ6PRD1.
OMAiKAELCPW.
OrthoDBiEOG7HF1HD.
PhylomeDBiQ6PRD1.
TreeFamiTF319114.

Family and domain databases

InterProiIPR017978. GPCR_3_C.
IPR032964. GPR179.
[Graphical view]
PANTHERiPTHR32546:SF7. PTHR32546:SF7. 1 hit.
PfamiPF00003. 7tm_3. 1 hit.
[Graphical view]
PROSITEiPS50259. G_PROTEIN_RECEP_F3_4. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q6PRD1-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGTRGAVMPP PMWGLLGCCF VCAWALGGPR PIRSLPPLSS QVKPGSVPMQ
60 70 80 90 100
VPLEGAEAAL AYLYSGDAQQ LSQVNCSERY EARGAGAMPG LPPSLQGAAG
110 120 130 140 150
TLAQAANFLN MLLQANDIRE SSVEEDVEWY QALVRSVAEG DPRVYRALLT
160 170 180 190 200
FNPPPGASHL QLALQATRTG EETILQDLSG NWVQEENPPG DLDTPALKKR
210 220 230 240 250
VLTNDLGSLG SPKWPQADGY VGDTQQVRLS PPFLECQEGR LRPGWLITLS
260 270 280 290 300
ATFYGLKPDL SPEVRGQVQM DVDLQSVDIN QCASGPGWYS NTHLCDLNST
310 320 330 340 350
QCVPLESQGF VLGRYLCRCR PGFYGASPSG GLEESDFQTT GQFGFPEGRS
360 370 380 390 400
GRLLQCLPCP EGCTSCMDAT PCLVEEAAVL RAAVLACQAC CMLAIFLSML
410 420 430 440 450
VSYRCRRNKR IWASGVVLLE TVLFGFLLLY FPVFILYFKP SVFRCIALRW
460 470 480 490 500
VRLLGFAIVY GTIILKLYRV LQLFLSRTAQ RSALLSSGRL LRRLGLLLLP
510 520 530 540 550
VLGFLAVWTV GALERGIQHA PLVIRGHTPS GRHFYLCHHD RWDYIMVVAE
560 570 580 590 600
LLLLCWGSFL CYATRAVLSA FHEPRYMGIA LHNELLLSAA FHTARFVLVP
610 620 630 640 650
SLHPDWTLLL FFFHTHSTVT TTLALIFIPK FWKLGAPPRE EMVDEVCEDE
660 670 680 690 700
LDLQHSGSYL GSSIASAWSE HSLDPGDIRD ELKKLYAQLE VHKTKEMAAN
710 720 730 740 750
NPHLPKKRGS SCQGLGRSFM RYLAEFPEAL ARQHSRDSGS PGHGSLPGSS
760 770 780 790 800
RRRLLSSSLQ EPEGTPALHK SRSTYDQRRE QDPPLLDSLL RRKLAKKASR
810 820 830 840 850
TESRESVEGP PALGFRSASA HNLTVGERLP RARPASLQKS LSVASSREKA
860 870 880 890 900
LLMASQAYLE ETYRQAKERE ERKKAKAAMA SLVRRPSARR LERPRGAPLS
910 920 930 940 950
APPSPAKSSS VDSSHTSGRL HEEARRRLPH PPIRHQVSTP ILALSGGLGE
960 970 980 990 1000
PRMLSPTSTL APALLPALAP TPAPALAPVP VSPQSPNLLT YICPWENAEL
1010 1020 1030 1040 1050
PAKQENVPQE GPSGPERGHH SPAPARARLW RALSVAVEKS RAGENEMDAE
1060 1070 1080 1090 1100
DAHHQREAND VDEDRPKIFP KSHSLKAPVQ QGSMRSLGLA IKALTRSRST
1110 1120 1130 1140 1150
YREKESVEES PEGQNSGTAG ESMGAPSRSP RLGRPKAVSK QAALIPSDDK
1160 1170 1180 1190 1200
ESLQNQQNAH TSRMLQVCQR EGSREQEDRG RRMTQGLGER KAERAGKTGL
1210 1220 1230 1240 1250
AMLRQVSRDK NIKQSKETPV GWQELPKAGL QSLGSADHRV AEVCPWEVTE
1260 1270 1280 1290 1300
SETRQPDSGN KAEICPWETS EGAPESRALR QDPGDSQKKR GEARGKSEPI
1310 1320 1330 1340 1350
DVVPMMRKKP ERLVREQEAV CPWESADRGG LSPGSAPQDP GRIRDKSEAG
1360 1370 1380 1390 1400
DSVEARKVEK PGWEAAGPEA HTPDITKAEP CPWEASEGGE DGKPAQEAVK
1410 1420 1430 1440 1450
DLPQEKQKTR KATFWKEQKP GGDLESLCPW ESTDFRGPSA VSIQAPGSSE
1460 1470 1480 1490 1500
CSGSLGSGIA EVCLWEAGDA PAIQKAEICP WELDDNVMGQ EMLSLGTGRE
1510 1520 1530 1540 1550
SLQEKEKASR KGSFGEMGEQ TVKAVQKLSQ QQESVCPRES TVPGHSSPCL
1560 1570 1580 1590 1600
DNSSSKAGSQ FLCNGGSRAT QVCPQEDLRP EAQEATPAKT EICPWEVNER
1610 1620 1630 1640 1650
TREEWTSAQV PRGGESQKDK EKMPGKSEIE DVTAWEKPEG QIQKQEAVGP
1660 1670 1680 1690 1700
WESVDPGSFS PQPRPQDTER PQTLLQMSGS VGSKAADICP LDVEENLTAG
1710 1720 1730 1740 1750
KAEICPWEVG AGAGEERALG AEAIRKSPND TGKVSADLGP RERAVTAPEK
1760 1770 1780 1790 1800
PQKPTPEWEV ACPWGSVGPG ACSQHPGTLD ADGPKAGFQE LDHMGCRPGE
1810 1820 1830 1840 1850
VCPWEAQEAA TSEKAKICPW EVSEGTTGKG LDQKAGSESA EQREKALEKG
1860 1870 1880 1890 1900
RLTSLGEDVS KGMAKLCQQQ ETICIWENKD LRESPAQAPK ISDLPSSMSS
1910 1920 1930 1940 1950
EVAEGHSLEA TEKGDLRQDP KTGSFPEHIT QEKAPAADTE EFTTEDGEKT
1960 1970 1980 1990 2000
SHELQSVCPW ETTAPADSVS HLDRQRPDQP KASSQRLVST GGRAADVCPW
2010 2020 2030 2040 2050
DVPDAGVYKS DSSAKAETCP WEVTERIPVK GVSRQDGKGD SQEEKGRAPE
2060 2070 2080 2090 2100
KSEPKGVPVQ KKPEMADFRQ QEAVCPWESQ DGKGLSPQPA PDASDRSRGS
2110 2120 2130 2140 2150
SEAAGSVETR VAEVCLWEVV EAPSAKKAEI CPWEAGGGAA EEGEQERESQ
2160 2170 2180 2190 2200
GQGEMFLQKA GPGGTEEHFS KAAAKPREQE AVCPGEGTGS GGLLPQSGAL
2210 2220 2230 2240 2250
DPELKVSPKE AGSMGSRMAE LCQWEITDPE GNKIKGTMAD ICPGEETGVP
2260 2270 2280 2290 2300
SEESGLLALT ATRREFFPTA PEKPLCLLVH GPLDHFFPES KIPCPKVSRP
2310 2320 2330 2340 2350
ASTFTLEGVR ELQGPSGLEP RTSLAPEPSL QEAESQSSSL TEDSGQVAFE
2360
AQYEEFTPPT VYPWDWE
Length:2,367
Mass (Da):257,363
Last modified:January 10, 2006 - v2
Checksum:i882ABAAED71B2EF0
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti126 – 1261D → H in CSNB1E. 1 Publication
Corresponds to variant rs281875233 [ dbSNP | Ensembl ].
VAR_067925
Natural varianti220 – 2201Y → C in CSNB1E. 1 Publication
Corresponds to variant rs281875236 [ dbSNP | Ensembl ].
VAR_067926
Natural varianti455 – 4551G → D in CSNB1E. 1 Publication
Corresponds to variant rs281875235 [ dbSNP | Ensembl ].
VAR_067927
Natural varianti603 – 6031H → Y in CSNB1E. 1 Publication
Corresponds to variant rs281875234 [ dbSNP | Ensembl ].
VAR_067928
Natural varianti1150 – 11501K → E.
Corresponds to variant rs55727040 [ dbSNP | Ensembl ].
VAR_061204
Natural varianti1176 – 11761Q → E.
Corresponds to variant rs4399578 [ dbSNP | Ensembl ].
VAR_049287
Natural varianti1381 – 13811C → R.
Corresponds to variant rs4398144 [ dbSNP | Ensembl ].
VAR_049288
Natural varianti1869 – 18691Q → E.
Corresponds to variant rs4399578 [ dbSNP | Ensembl ].
VAR_049289

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY584611 mRNA. Translation: AAS91740.1.
AC115992 Genomic DNA. No translation available.
CCDSiCCDS42308.1.
RefSeqiNP_001004334.3. NM_001004334.3.
UniGeneiHs.462915.

Genome annotation databases

EnsembliENST00000610650; ENSP00000484951; ENSG00000276469.
GeneIDi440435.
KEGGihsa:440435.
UCSCiuc032gkv.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

G protein-coupled receptor 179 (GPR179)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY584611 mRNA. Translation: AAS91740.1.
AC115992 Genomic DNA. No translation available.
CCDSiCCDS42308.1.
RefSeqiNP_001004334.3. NM_001004334.3.
UniGeneiHs.462915.

3D structure databases

ProteinModelPortaliQ6PRD1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000345060.

Protein family/group databases

GPCRDBiSearch...

PTM databases

iPTMnetiQ6PRD1.
PhosphoSiteiQ6PRD1.

Polymorphism and mutation databases

BioMutaiGPR179.
DMDMi85540945.

Proteomic databases

EPDiQ6PRD1.
PaxDbiQ6PRD1.
PRIDEiQ6PRD1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000610650; ENSP00000484951; ENSG00000276469.
GeneIDi440435.
KEGGihsa:440435.
UCSCiuc032gkv.1. human.

Organism-specific databases

CTDi440435.
GeneCardsiGPR179.
HGNCiHGNC:31371. GPR179.
HPAiHPA017885.
MalaCardsiGPR179.
MIMi614515. gene.
614565. phenotype.
neXtProtiNX_Q6PRD1.
Orphaneti215. Congenital stationary night blindness.
PharmGKBiPA134900696.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4418. Eukaryota.
ENOG410XXEC. LUCA.
HOGENOMiHOG000015342.
HOVERGENiHBG081570.
InParanoidiQ6PRD1.
OMAiKAELCPW.
OrthoDBiEOG7HF1HD.
PhylomeDBiQ6PRD1.
TreeFamiTF319114.

Miscellaneous databases

GeneWikiiGPR179.
GenomeRNAii440435.
PROiQ6PRD1.
SOURCEiSearch...

Gene expression databases

BgeeiQ6PRD1.
CleanExiHS_GPR179.

Family and domain databases

InterProiIPR017978. GPCR_3_C.
IPR032964. GPR179.
[Graphical view]
PANTHERiPTHR32546:SF7. PTHR32546:SF7. 1 hit.
PfamiPF00003. 7tm_3. 1 hit.
[Graphical view]
PROSITEiPS50259. G_PROTEIN_RECEP_F3_4. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Complete coding sequence of GPR158L1."
    Bonner T.I., Nagle J.W., Kauffman D., Kozhich O.
    Submitted (MAR-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Pituitary.
  2. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness."
    Audo I., Bujakowska K., Orhan E., Poloschek C.M., Defoort-Dhellemmes S., Drumare I., Kohl S., Luu T.D., Lecompte O., Zrenner E., Lancelot M.E., Antonio A., Germain A., Michiels C., Audier C., Letexier M., Saraiva J.P., Leroy B.P.
    , Munier F.L., Mohand-Said S., Lorenz B., Friedburg C., Preising M., Kellner U., Renner A.B., Moskova-Doumanova V., Berger W., Wissinger B., Hamel C.P., Schorderet D.F., De Baere E., Sharon D., Banin E., Jacobson S.G., Bonneau D., Zanlonghi X., Le Meur G., Casteels I., Koenekoop R., Long V.W., Meire F., Prescott K., de Ravel T., Simmons I., Nguyen H., Dollfus H., Poch O., Leveillard T., Nguyen-Ba-Charvet K., Sahel J.A., Bhattacharya S.S., Zeitz C.
    Am. J. Hum. Genet. 90:321-330(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY, VARIANTS CSNB1E HIS-126; ASP-455 AND TYR-603.
  4. Cited for: FUNCTION, VARIANT CSNB1E CYS-220.

Entry informationi

Entry nameiGP179_HUMAN
AccessioniPrimary (citable) accession number: Q6PRD1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: January 10, 2006
Last modified: June 8, 2016
This is version 99 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
  2. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.