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Entry version 168 (13 Nov 2019)
Sequence version 2 (15 Jul 1998)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionG-protein coupled receptor, Receptor, Transducer

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-375280 Amine ligand-binding receptors
R-HSA-416476 G alpha (q) signalling events

Protein family/group databases

Transport Classification Database

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
G-protein coupled receptor 143
Alternative name(s):
Ocular albinism type 1 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GPR143
Synonyms:OA1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:20145 GPR143

Online Mendelian Inheritance in Man (OMIM)

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MIMi
300808 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P51810

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 28ExtracellularSequence analysisAdd BLAST28
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

Keywords - Cellular componenti

Cell membrane, Lysosome, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Albinism ocular 1 (OA1)12 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0181305R → C in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; lacks G protein-activation abilities. 2 PublicationsCorresponds to variant dbSNP:rs62635289EnsemblClinVar.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 dbSNP:rs62635018EnsemblClinVar.1
Natural variantiVAR_01813139L → R in OA1. 1 PublicationCorresponds to variant dbSNP:rs62635019EnsemblClinVar.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 dbSNP:rs62635024EnsemblClinVar.1
Natural variantiVAR_01813378D → V in OA1. 1 PublicationCorresponds to variant dbSNP:rs62635025EnsemblClinVar.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 dbSNP:rs62635027EnsemblClinVar.1
Natural variantiVAR_00550984G → R in OA1. 1 PublicationCorresponds to variant dbSNP:rs62635026EnsemblClinVar.1
Natural variantiVAR_063267116C → G in OA1. 2 Publications1
Natural variantiVAR_005510116C → R in OA1. 1 PublicationCorresponds to variant dbSNP:rs62635030EnsemblClinVar.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 dbSNP:rs62635029EnsemblClinVar.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 dbSNP:rs62635031EnsemblClinVar.1
Natural variantiVAR_018135124Q → R in OA1. 1 PublicationCorresponds to variant dbSNP:rs62635032EnsemblClinVar.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 dbSNP:rs137852296EnsemblClinVar.1
Natural variantiVAR_063270134L → P in OA1. 1 Publication1
Natural variantiVAR_005514138A → V in OA1. 1 PublicationCorresponds to variant dbSNP:rs62635762EnsemblClinVar.1
Natural variantiVAR_005515152S → N in OA1. 1 PublicationCorresponds to variant dbSNP:rs58933950EnsemblClinVar.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 dbSNP:rs62635035EnsemblClinVar.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 dbSNP:rs199899645Ensembl.1
Natural variantiVAR_018136229G → V in OA1; not delivered at the cell surface of melanocytic and non-melanocytic cells. 2 PublicationsCorresponds to variant dbSNP:rs62635037EnsemblClinVar.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 dbSNP:rs137852297EnsemblClinVar.1
Natural variantiVAR_018137233E → K in OA1. 1 PublicationCorresponds to variant dbSNP:rs62635038EnsemblClinVar.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 dbSNP:rs62635040EnsemblClinVar.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 dbSNP:rs62635043EnsemblClinVar.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 dbSNP:rs62635046EnsemblClinVar.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 dbSNP:rs62635045EnsemblClinVar.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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06326689S → F in NYS6. 1 PublicationCorresponds to variant dbSNP:rs137852298EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
4935

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
GPR143

MalaCards human disease database

More...
MalaCardsi
GPR143
MIMi300500 phenotype
300814 phenotype

Open Targets

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OpenTargetsi
ENSG00000101850

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
651 NON RARE IN EUROPE: Idiopathic infantile nystagmus
54 X-linked recessive ocular albinism

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA31872

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P51810

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
GPR143

Domain mapping of disease mutations (DMDM)

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DMDMi
3219999

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001950861 – 404G-protein coupled receptor 143Add BLAST404

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi106N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Glycosylated.1 Publication
Phosphorylated.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P51810

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P51810

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P51810

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P51810

PeptideAtlas

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PeptideAtlasi
P51810

PRoteomics IDEntifications database

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PRIDEi
P51810

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
56406

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P51810

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P51810

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000101850 Expressed in 103 organ(s), highest expression level in pigmented layer of retina

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P51810 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P51810 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA003648

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with heterotrimeric G(i) proteins.

Interacts with ARRB1 and ARRB2.

Interacts with MLANA.

3 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
110989, 2 interactors

Database of interacting proteins

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DIPi
DIP-53284N

Protein interaction database and analysis system

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IntActi
P51810, 2 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000417161

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni221 – 238Necessary for its G protein-activation ability and normal distribution of melanosomesAdd BLAST18

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi222 – 231lysosomal/melanosomal membrane localization signal10
Motifi329 – 330lysosomal/melanosomal membrane localization signal2

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IGRK Eukaryota
ENOG410ZPYV LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000016722

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000112769

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P51810

KEGG Orthology (KO)

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KOi
K08470

Identification of Orthologs from Complete Genome Data

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OMAi
PHYITTY

Database of Orthologous Groups

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OrthoDBi
711825at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P51810

TreeFam database of animal gene trees

More...
TreeFami
TF324849

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001414 GPR143

The PANTHER Classification System

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PANTHERi
PTHR15177 PTHR15177, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF02101 Ocular_alb, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00965 OCULARALBNSM

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i20DEB20E80CC0E1D
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J9N1C9J9N1_HUMAN
G-protein-coupled receptor 143
GPR143
171Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7BZN6H7BZN6_HUMAN
G-protein-coupled receptor 143
GPR143
267Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH68977 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence CAA88742 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence EAW98773 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0181305R → C in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; lacks G protein-activation abilities. 2 PublicationsCorresponds to variant dbSNP:rs62635289EnsemblClinVar.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 dbSNP:rs62635018EnsemblClinVar.1
Natural variantiVAR_01813139L → R in OA1. 1 PublicationCorresponds to variant dbSNP:rs62635019EnsemblClinVar.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 dbSNP:rs62635024EnsemblClinVar.1
Natural variantiVAR_01813378D → V in OA1. 1 PublicationCorresponds to variant dbSNP:rs62635025EnsemblClinVar.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 dbSNP:rs62635027EnsemblClinVar.1
Natural variantiVAR_00550984G → R in OA1. 1 PublicationCorresponds to variant dbSNP:rs62635026EnsemblClinVar.1
Natural variantiVAR_06326689S → F in NYS6. 1 PublicationCorresponds to variant dbSNP:rs137852298EnsemblClinVar.1
Natural variantiVAR_063267116C → G in OA1. 2 Publications1
Natural variantiVAR_005510116C → R in OA1. 1 PublicationCorresponds to variant dbSNP:rs62635030EnsemblClinVar.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 dbSNP:rs62635029EnsemblClinVar.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 dbSNP:rs62635031EnsemblClinVar.1
Natural variantiVAR_018135124Q → R in OA1. 1 PublicationCorresponds to variant dbSNP:rs62635032EnsemblClinVar.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 dbSNP:rs137852296EnsemblClinVar.1
Natural variantiVAR_063270134L → P in OA1. 1 Publication1
Natural variantiVAR_005514138A → V in OA1. 1 PublicationCorresponds to variant dbSNP:rs62635762EnsemblClinVar.1
Natural variantiVAR_005515152S → N in OA1. 1 PublicationCorresponds to variant dbSNP:rs58933950EnsemblClinVar.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 dbSNP:rs62635035EnsemblClinVar.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 dbSNP:rs199899645Ensembl.1
Natural variantiVAR_018136229G → V in OA1; not delivered at the cell surface of melanocytic and non-melanocytic cells. 2 PublicationsCorresponds to variant dbSNP:rs62635037EnsemblClinVar.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 dbSNP:rs137852297EnsemblClinVar.1
Natural variantiVAR_018137233E → K in OA1. 1 PublicationCorresponds to variant dbSNP:rs62635038EnsemblClinVar.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 dbSNP:rs62635040EnsemblClinVar.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 dbSNP:rs62635043EnsemblClinVar.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 dbSNP:rs62635046EnsemblClinVar.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 dbSNP:rs62635045EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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.

The Consensus CDS (CCDS) project

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CCDSi
CCDS14134.2

NCBI Reference Sequences

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RefSeqi
NP_000264.2, NM_000273.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000467482; ENSP00000417161; ENSG00000101850

Database of genes from NCBI RefSeq genomes

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GeneIDi
4935

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:4935

UCSC genome browser

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UCSCi
uc004cst.3 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi110989, 2 interactors
DIPiDIP-53284N
IntActiP51810, 2 interactors
STRINGi9606.ENSP00000417161

Protein family/group databases

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

Information system for G protein-coupled receptors (GPCRs)

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GPCRDBi
Search...

PTM databases

iPTMnetiP51810
PhosphoSitePlusiP51810

Polymorphism and mutation databases

BioMutaiGPR143
DMDMi3219999

Proteomic databases

EPDiP51810
jPOSTiP51810
MassIVEiP51810
PaxDbiP51810
PeptideAtlasiP51810
PRIDEiP51810
ProteomicsDBi56406

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
4935

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4935
DisGeNETi4935

GeneCards: human genes, protein and diseases

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GeneCardsi
GPR143
GeneReviewsiGPR143
HGNCiHGNC:20145 GPR143
HPAiHPA003648
MalaCardsiGPR143
MIMi300500 phenotype
300808 gene
300814 phenotype
neXtProtiNX_P51810
OpenTargetsiENSG00000101850
Orphaneti651 NON RARE IN EUROPE: Idiopathic infantile nystagmus
54 X-linked recessive ocular albinism
PharmGKBiPA31872

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IGRK Eukaryota
ENOG410ZPYV LUCA
GeneTreeiENSGT00390000016722
HOGENOMiHOG000112769
InParanoidiP51810
KOiK08470
OMAiPHYITTY
OrthoDBi711825at2759
PhylomeDBiP51810
TreeFamiTF324849

Enzyme and pathway databases

ReactomeiR-HSA-375280 Amine ligand-binding receptors
R-HSA-416476 G alpha (q) signalling events

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
GPR143 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
GPR143

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
4935
PharosiP51810

Protein Ontology

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PROi
PR:P51810

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000101850 Expressed in 103 organ(s), highest expression level in pigmented layer of retina
ExpressionAtlasiP51810 baseline and differential
GenevisibleiP51810 HS

Family and domain databases

InterProiView protein in InterPro
IPR001414 GPR143
PANTHERiPTHR15177 PTHR15177, 1 hit
PfamiView protein in Pfam
PF02101 Ocular_alb, 1 hit
PRINTSiPR00965 OCULARALBNSM

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGP143_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P51810
Secondary accession number(s): Q6NTI7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: July 15, 1998
Last modified: November 13, 2019
This is version 168 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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