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Protein

G-protein coupled receptor 143

Gene

GPR143

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

Functioni

Receptor for tyrosine, L-DOPA and dopamine. After binding to L-DOPA, stimulates Ca2+ influx into the cytoplasm, increases secretion of the neurotrophic factor SERPINF1 and relocalizes beta arrestin at the plasma membrane; this ligand-dependent signaling occurs through a G(q)-mediated pathway in melanocytic cells. Its activity is mediated by G proteins which activate the phosphoinositide signaling pathway. Plays also a role as an intracellular G protein-coupled receptor involved in melanosome biogenesis, organization and transport.5 Publications

GO - Molecular functioni

  • dopamine binding Source: UniProtKB
  • G-protein coupled receptor activity Source: UniProtKB
  • L-DOPA binding Source: UniProtKB
  • L-DOPA receptor activity Source: UniProtKB
  • tyrosine binding Source: UniProtKB

GO - Biological processi

  • calcium-mediated signaling using intracellular calcium source Source: UniProtKB
  • eye pigment biosynthetic process Source: ProtInc
  • G-protein coupled receptor signaling pathway Source: UniProtKB
  • melanosome localization Source: UniProtKB
  • melanosome organization Source: UniProtKB
  • melanosome transport Source: UniProtKB
  • phosphatidylinositol-mediated signaling Source: UniProtKB
  • regulation of calcium-mediated signaling Source: UniProtKB
  • regulation of melanosome organization Source: Ensembl
  • regulation of melanosome transport Source: Ensembl
  • signal transduction Source: ProtInc
  • visual perception Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

G-protein coupled receptor, Receptor, Transducer

Enzyme and pathway databases

BioCyciZFISH:ENSG00000101850-MONOMER.
ReactomeiR-HSA-375280. Amine ligand-binding receptors.

Protein family/group databases

TCDBi9.A.14.20.1. the g-protein-coupled receptor (gpcr) family.

Names & Taxonomyi

Protein namesi
Recommended name:
G-protein coupled receptor 143
Alternative name(s):
Ocular albinism type 1 protein
Gene namesi
Name:GPR143
Synonyms:OA1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:20145. GPR143.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 28ExtracellularSequence analysisAdd BLAST28
Transmembranei29 – 49Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini50 – 78CytoplasmicSequence analysisAdd BLAST29
Transmembranei79 – 99Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini100 – 124ExtracellularSequence analysisAdd BLAST25
Transmembranei125 – 145Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini146 – 149CytoplasmicSequence analysis4
Transmembranei150 – 170Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini171 – 191ExtracellularSequence analysisAdd BLAST21
Transmembranei192 – 212Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini213 – 248CytoplasmicSequence analysisAdd BLAST36
Transmembranei249 – 269Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini270 – 292ExtracellularSequence analysisAdd BLAST23
Transmembranei293 – 313Helical; Name=7Sequence analysisAdd BLAST21
Topological domaini314 – 404CytoplasmicSequence analysisAdd BLAST91

GO - Cellular componenti

  • apical plasma membrane Source: UniProtKB
  • cytoplasm Source: ProtInc
  • Golgi apparatus Source: UniProtKB
  • integral component of membrane Source: ProtInc
  • lysosomal membrane Source: UniProtKB
  • melanosome Source: UniProtKB
  • melanosome membrane Source: UniProtKB
  • membrane Source: ProtInc
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Albinism ocular 1 (OA1)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionForm of albinism affecting only the eye. Pigment of the hair and skin is normal or only slightly diluted. Eyes may be severely affected with photophobia and reduced visual acuity. Nystagmus or strabismus are often associated. The irides and fundus are depigmented.
See also OMIM:300500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0181305R → C in OA1; results in altered glycosylation pattern and subcellular localization consistent with proteiin retention in the endoplasmic reticulum; lacks G protein-activation abilities. 2 PublicationsCorresponds to variant rs62635289dbSNPEnsembl.1
Natural variantiVAR_00550735G → D in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum. 3 PublicationsCorresponds to variant rs62635018dbSNPEnsembl.1
Natural variantiVAR_01813139L → R in OA1. 1 PublicationCorresponds to variant rs62635019dbSNPEnsembl.1
Natural variantiVAR_01813278D → N in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum. 2 PublicationsCorresponds to variant rs62635024dbSNPEnsembl.1
Natural variantiVAR_01813378D → V in OA1. 1 PublicationCorresponds to variant rs62635025dbSNPEnsembl.1
Natural variantiVAR_06326480Missing in OA1. 1 Publication1
Natural variantiVAR_06326581G → V in OA1. 1 Publication1
Natural variantiVAR_00550884G → D in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum. 2 PublicationsCorresponds to variant rs62635027dbSNPEnsembl.1
Natural variantiVAR_00550984G → R in OA1. 1 PublicationCorresponds to variant rs62635026dbSNPEnsembl.1
Natural variantiVAR_063267116C → G in OA1. 2 Publications1
Natural variantiVAR_005510116C → R in OA1. 1 PublicationCorresponds to variant rs62635030dbSNPEnsembl.1
Natural variantiVAR_018134116C → S in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum. 2 PublicationsCorresponds to variant rs62635029dbSNPEnsembl.1
Natural variantiVAR_063268116C → W in OA1. 1 Publication1
Natural variantiVAR_005511118G → E in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum. 4 PublicationsCorresponds to variant rs62635031dbSNPEnsembl.1
Natural variantiVAR_018135124Q → R in OA1. 1 PublicationCorresponds to variant rs62635032dbSNPEnsembl.1
Natural variantiVAR_063269132W → R in OA1. 1 Publication1
Natural variantiVAR_005513133W → R in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum. 3 PublicationsCorresponds to variant rs137852296dbSNPEnsembl.1
Natural variantiVAR_063270134L → P in OA1. 1 Publication1
Natural variantiVAR_005514138A → V in OA1. 1 PublicationCorresponds to variant rs62635762dbSNPEnsembl.1
Natural variantiVAR_005515152S → N in OA1. 1 PublicationCorresponds to variant rs58933950dbSNPEnsembl.1
Natural variantiVAR_063271166T → N in OA1. 1 Publication1
Natural variantiVAR_005516173A → D in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum. 2 PublicationsCorresponds to variant rs62635035dbSNPEnsembl.1
Natural variantiVAR_063272185E → K in OA1. 1 Publication1
Natural variantiVAR_063273186R → P in OA1. 1 Publication1
Natural variantiVAR_063274186R → W in OA1. 1 PublicationCorresponds to variant rs199899645dbSNPEnsembl.1
Natural variantiVAR_018136229G → V in OA1; not delivered at the cell surface of melanocytic and non-melanocytic cells. 2 PublicationsCorresponds to variant rs62635037dbSNPEnsembl.1
Natural variantiVAR_005517232T → K in OA1; abnormal distribution of melanosomes; Not delivered at the cell surface of melanocytic and non-melanocytic cells. 3 PublicationsCorresponds to variant rs137852297dbSNPEnsembl.1
Natural variantiVAR_018137233E → K in OA1. 1 PublicationCorresponds to variant rs62635038dbSNPEnsembl.1
Natural variantiVAR_005518235E → K in OA1; not delivered at the cell surface of melanocytic and non-melanocytic cells. 2 Publications1
Natural variantiVAR_018138244I → V in OA1; not delivered at the cell surface of melanocytic and non-melanocytic cells. 2 PublicationsCorresponds to variant rs62635040dbSNPEnsembl.1
Natural variantiVAR_018139261I → N in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_018140271E → G in OA1. 1 PublicationCorresponds to variant rs62635043dbSNPEnsembl.1
Natural variantiVAR_005519290Missing in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_018141292W → C in OA1. 1 PublicationCorresponds to variant rs62635046dbSNPEnsembl.1
Natural variantiVAR_005520292W → G in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum. 2 PublicationsCorresponds to variant rs62635045dbSNPEnsembl.1
Nystagmus congenital X-linked 6 (NYS6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding.
See also OMIM:300814
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06326689S → F in NYS6. 1 PublicationCorresponds to variant rs137852298dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi223 – 224LL → AA: Delivered to both at the cell surface and in vesicles of melanocytic and non-melanocytic cells. Strongly delivered at the cell surface of melanocytic and non-melanocytic cells; when associated with 329-A-A-330. 2
Mutagenesisi329 – 330WE → AA: Mostly delivered at the cell surface of melanocytic and non-melanocytic cells. Strongly delivered at the cell surface of melanocytic and non-melanocytic cells; when associated with 224-A-A-225. 1 Publication2

Keywords - Diseasei

Albinism, Disease mutation

Organism-specific databases

DisGeNETi4935.
MalaCardsiGPR143.
MIMi300500. phenotype.
300814. phenotype.
OpenTargetsiENSG00000101850.
Orphaneti651. Idiopathic infantile nystagmus.
54. X-linked recessive ocular albinism.
PharmGKBiPA31872.

Polymorphism and mutation databases

BioMutaiGPR143.
DMDMi3219999.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001950861 – 404G-protein coupled receptor 143Add BLAST404

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi106N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

Glycosylated.1 Publication
Phosphorylated.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiP51810.
PaxDbiP51810.
PeptideAtlasiP51810.
PRIDEiP51810.

PTM databases

iPTMnetiP51810.
PhosphoSitePlusiP51810.

Expressioni

Tissue specificityi

Expressed at high levels in the retina, including the retinal pigment epithelium (RPE), and in melanocytes. Weak expression is observed in brain and adrenal gland.2 Publications

Gene expression databases

BgeeiENSG00000101850.
CleanExiHS_GPR143.
ExpressionAtlasiP51810. baseline and differential.
GenevisibleiP51810. HS.

Organism-specific databases

HPAiHPA003648.

Interactioni

Subunit structurei

Interacts with heterotrimeric G(i) proteins. Interacts with ARRB1 and ARRB2. Interacts with MLANA.3 Publications

Protein-protein interaction databases

BioGridi110989. 2 interactors.
DIPiDIP-53284N.
IntActiP51810. 1 interactor.
STRINGi9606.ENSP00000417161.

Structurei

3D structure databases

ProteinModelPortaliP51810.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni221 – 238Necessary for its G protein-activation ability and normal distribution of melanosomesAdd BLAST18

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi222 – 231lysosomal/melanosomal membrane localization signal10
Motifi329 – 330lysosomal/melanosomal membrane localization signal2

Domaini

The cytoplasmic domain 3 and the C-terminus tail domain contain the lysosomal sorting signals and are necessary and sufficient for intracellular retention and delivery to lysosomal and melanosomal, respectively in melanocytic and non-melanocytic cells.

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IGRK. Eukaryota.
ENOG410ZPYV. LUCA.
GeneTreeiENSGT00390000016722.
HOGENOMiHOG000112769.
HOVERGENiHBG051784.
InParanoidiP51810.
KOiK08470.
OMAiMGILNPM.
OrthoDBiEOG091G0E85.
PhylomeDBiP51810.
TreeFamiTF324849.

Family and domain databases

InterProiIPR001414. GPR143.
[Graphical view]
PANTHERiPTHR15177:SF2. PTHR15177:SF2. 1 hit.
PfamiPF02101. Ocular_alb. 1 hit.
[Graphical view]
PRINTSiPR00965. OCULARALBNSM.

Sequencei

Sequence statusi: Complete.

P51810-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MASPRLGTFC CPTRDAATQL VLSFQPRAFH ALCLGSGGLR LALGLLQLLP
60 70 80 90 100
GRRPAGPGSP ATSPPASVRI LRAAAACDLL GCLGMVIRST VWLGFPNFVD
110 120 130 140 150
SVSDMNHTEI WPAAFCVGSA MWIQLLYSAC FWWLFCYAVD AYLVIRRSAG
160 170 180 190 200
LSTILLYHIM AWGLATLLCV EGAAMLYYPS VSRCERGLDH AIPHYVTMYL
210 220 230 240 250
PLLLVLVANP ILFQKTVTAV ASLLKGRQGI YTENERRMGA VIKIRFFKIM
260 270 280 290 300
LVLIICWLSN IINESLLFYL EMQTDINGGS LKPVRTAAKT TWFIMGILNP
310 320 330 340 350
AQGFLLSLAF YGWTGCSLGF QSPRKEIQWE SLTTSAAEGA HPSPLMPHEN
360 370 380 390 400
PASGKVSQVG GQTSDEALSM LSEGSDASTI EIHTASESCN KNEGDPALPT

HGDL
Length:404
Mass (Da):43,878
Last modified:July 15, 1998 - v2
Checksum:i20DEB20E80CC0E1D
GO

Sequence cautioni

The sequence AAH68977 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAA88742 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence EAW98773 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0181305R → C in OA1; results in altered glycosylation pattern and subcellular localization consistent with proteiin retention in the endoplasmic reticulum; lacks G protein-activation abilities. 2 PublicationsCorresponds to variant rs62635289dbSNPEnsembl.1
Natural variantiVAR_00550735G → D in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum. 3 PublicationsCorresponds to variant rs62635018dbSNPEnsembl.1
Natural variantiVAR_01813139L → R in OA1. 1 PublicationCorresponds to variant rs62635019dbSNPEnsembl.1
Natural variantiVAR_01813278D → N in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum. 2 PublicationsCorresponds to variant rs62635024dbSNPEnsembl.1
Natural variantiVAR_01813378D → V in OA1. 1 PublicationCorresponds to variant rs62635025dbSNPEnsembl.1
Natural variantiVAR_06326480Missing in OA1. 1 Publication1
Natural variantiVAR_06326581G → V in OA1. 1 Publication1
Natural variantiVAR_00550884G → D in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum. 2 PublicationsCorresponds to variant rs62635027dbSNPEnsembl.1
Natural variantiVAR_00550984G → R in OA1. 1 PublicationCorresponds to variant rs62635026dbSNPEnsembl.1
Natural variantiVAR_06326689S → F in NYS6. 1 PublicationCorresponds to variant rs137852298dbSNPEnsembl.1
Natural variantiVAR_063267116C → G in OA1. 2 Publications1
Natural variantiVAR_005510116C → R in OA1. 1 PublicationCorresponds to variant rs62635030dbSNPEnsembl.1
Natural variantiVAR_018134116C → S in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum. 2 PublicationsCorresponds to variant rs62635029dbSNPEnsembl.1
Natural variantiVAR_063268116C → W in OA1. 1 Publication1
Natural variantiVAR_005511118G → E in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum. 4 PublicationsCorresponds to variant rs62635031dbSNPEnsembl.1
Natural variantiVAR_018135124Q → R in OA1. 1 PublicationCorresponds to variant rs62635032dbSNPEnsembl.1
Natural variantiVAR_063269132W → R in OA1. 1 Publication1
Natural variantiVAR_005513133W → R in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum. 3 PublicationsCorresponds to variant rs137852296dbSNPEnsembl.1
Natural variantiVAR_063270134L → P in OA1. 1 Publication1
Natural variantiVAR_005514138A → V in OA1. 1 PublicationCorresponds to variant rs62635762dbSNPEnsembl.1
Natural variantiVAR_005515152S → N in OA1. 1 PublicationCorresponds to variant rs58933950dbSNPEnsembl.1
Natural variantiVAR_063271166T → N in OA1. 1 Publication1
Natural variantiVAR_005516173A → D in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum. 2 PublicationsCorresponds to variant rs62635035dbSNPEnsembl.1
Natural variantiVAR_063272185E → K in OA1. 1 Publication1
Natural variantiVAR_063273186R → P in OA1. 1 Publication1
Natural variantiVAR_063274186R → W in OA1. 1 PublicationCorresponds to variant rs199899645dbSNPEnsembl.1
Natural variantiVAR_018136229G → V in OA1; not delivered at the cell surface of melanocytic and non-melanocytic cells. 2 PublicationsCorresponds to variant rs62635037dbSNPEnsembl.1
Natural variantiVAR_005517232T → K in OA1; abnormal distribution of melanosomes; Not delivered at the cell surface of melanocytic and non-melanocytic cells. 3 PublicationsCorresponds to variant rs137852297dbSNPEnsembl.1
Natural variantiVAR_018137233E → K in OA1. 1 PublicationCorresponds to variant rs62635038dbSNPEnsembl.1
Natural variantiVAR_005518235E → K in OA1; not delivered at the cell surface of melanocytic and non-melanocytic cells. 2 Publications1
Natural variantiVAR_018138244I → V in OA1; not delivered at the cell surface of melanocytic and non-melanocytic cells. 2 PublicationsCorresponds to variant rs62635040dbSNPEnsembl.1
Natural variantiVAR_018139261I → N in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_018140271E → G in OA1. 1 PublicationCorresponds to variant rs62635043dbSNPEnsembl.1
Natural variantiVAR_005519290Missing in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_018141292W → C in OA1. 1 PublicationCorresponds to variant rs62635046dbSNPEnsembl.1
Natural variantiVAR_005520292W → G in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum. 2 PublicationsCorresponds to variant rs62635045dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z48804 mRNA. Translation: CAA88742.1. Different initiation.
AC003036 Genomic DNA. No translation available.
AC090481 Genomic DNA. No translation available.
CH471074 Genomic DNA. Translation: EAW98773.1. Different initiation.
BC068977 mRNA. Translation: AAH68977.1. Different initiation.
CCDSiCCDS14134.2.
RefSeqiNP_000264.2. NM_000273.2.
UniGeneiHs.74124.

Genome annotation databases

EnsembliENST00000467482; ENSP00000417161; ENSG00000101850.
GeneIDi4935.
KEGGihsa:4935.
UCSCiuc004cst.3. human.

Cross-referencesi

Web resourcesi

Mutations of the OA1 gene

Retina International's Scientific Newsletter

Albinism database (ADB)

GPR143 mutations

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z48804 mRNA. Translation: CAA88742.1. Different initiation.
AC003036 Genomic DNA. No translation available.
AC090481 Genomic DNA. No translation available.
CH471074 Genomic DNA. Translation: EAW98773.1. Different initiation.
BC068977 mRNA. Translation: AAH68977.1. Different initiation.
CCDSiCCDS14134.2.
RefSeqiNP_000264.2. NM_000273.2.
UniGeneiHs.74124.

3D structure databases

ProteinModelPortaliP51810.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110989. 2 interactors.
DIPiDIP-53284N.
IntActiP51810. 1 interactor.
STRINGi9606.ENSP00000417161.

Protein family/group databases

TCDBi9.A.14.20.1. the g-protein-coupled receptor (gpcr) family.
GPCRDBiSearch...

PTM databases

iPTMnetiP51810.
PhosphoSitePlusiP51810.

Polymorphism and mutation databases

BioMutaiGPR143.
DMDMi3219999.

Proteomic databases

EPDiP51810.
PaxDbiP51810.
PeptideAtlasiP51810.
PRIDEiP51810.

Protocols and materials databases

DNASUi4935.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000467482; ENSP00000417161; ENSG00000101850.
GeneIDi4935.
KEGGihsa:4935.
UCSCiuc004cst.3. human.

Organism-specific databases

CTDi4935.
DisGeNETi4935.
GeneCardsiGPR143.
GeneReviewsiGPR143.
HGNCiHGNC:20145. GPR143.
HPAiHPA003648.
MalaCardsiGPR143.
MIMi300500. phenotype.
300808. gene.
300814. phenotype.
neXtProtiNX_P51810.
OpenTargetsiENSG00000101850.
Orphaneti651. Idiopathic infantile nystagmus.
54. X-linked recessive ocular albinism.
PharmGKBiPA31872.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGRK. Eukaryota.
ENOG410ZPYV. LUCA.
GeneTreeiENSGT00390000016722.
HOGENOMiHOG000112769.
HOVERGENiHBG051784.
InParanoidiP51810.
KOiK08470.
OMAiMGILNPM.
OrthoDBiEOG091G0E85.
PhylomeDBiP51810.
TreeFamiTF324849.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000101850-MONOMER.
ReactomeiR-HSA-375280. Amine ligand-binding receptors.

Miscellaneous databases

ChiTaRSiGPR143. human.
GeneWikiiGPR143.
GenomeRNAii4935.
PROiP51810.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000101850.
CleanExiHS_GPR143.
ExpressionAtlasiP51810. baseline and differential.
GenevisibleiP51810. HS.

Family and domain databases

InterProiIPR001414. GPR143.
[Graphical view]
PANTHERiPTHR15177:SF2. PTHR15177:SF2. 1 hit.
PfamiPF02101. Ocular_alb. 1 hit.
[Graphical view]
PRINTSiPR00965. OCULARALBNSM.
ProtoNetiSearch...

Entry informationi

Entry nameiGP143_HUMAN
AccessioniPrimary (citable) accession number: P51810
Secondary accession number(s): Q6NTI7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: July 15, 1998
Last modified: November 30, 2016
This is version 150 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 X
    Human chromosome X: 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.