P51810 · GP143_HUMAN

  • Protein
    G-protein coupled receptor 143
  • Gene
    GPR143
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

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. Also plays a role as an intracellular G protein-coupled receptor involved in melanosome biogenesis, organization and transport.

GO annotations

all annotationsall molecular functionvirus receptor activitydna bindingrna bindingcytoskeletal motor activitycatalytic activitygtpase activitystructural molecule activitytransporter activitycytoskeletal protein bindinglipid bindingcyclase activityantioxidant activityoxidoreductase activitytransferase activityhydrolase activitylyase activityisomerase activityligase activityprotein tag activitycargo receptor activityhistone bindingprotein folding chaperonetranslation regulator activitynutrient reservoir activityreceptor ligand activitymolecular transducer activitymolecular adaptor activitytoxin activitycell adhesion mediator activitymolecular function regulator activityvirus coreceptor activitycatalytic activity, acting on a proteincatalytic activity, acting on dnacatalytic activity, acting on rnamolecular carrier activitytranscription regulator activitygeneral transcription initiation factor activitymolecular sensor activitymolecular sequestering activityatp-dependent activityother molecular functionall biological processmitotic cell cyclecytokinesiscytoplasmic translationimmune system processmuscle system processcirculatory system processrenal system processrespiratory system processcarbohydrate metabolic processgeneration of precursor metabolites and energydna replicationdna repairdna recombinationchromatin organizationdna-templated transcriptionregulation of dna-templated transcriptiontrna metabolic processprotein foldingprotein glycosylationamino acid metabolic processmodified amino acid metabolic processlipid metabolic processvitamin metabolic processsulfur compound metabolic processintracellular protein transportnucleocytoplasmic transportautophagyinflammatory responsemitochondrion organizationcytoskeleton organizationmicrotubule-based movementperoxisome organizationlysosome organizationchromosome segregationcell adhesionestablishment or maintenance of cell polarityprogrammed cell deathphotosynthesismrna metabolic processsnrna metabolic processvesicle-mediated transportreproductive processdigestive system processsignalingcell differentiationprotein catabolic processextracellular matrix organizationregulatory ncrna-mediated gene silencingtelomere organizationcell junction organizationwound healingribosome biogenesiscilium organizationanatomical structure developmentcell motilitynervous system processendocrine processprotein maturationtransmembrane transportnucleobase-containing small molecule metabolic processhepaticobiliary system processmembrane organizationprotein-containing complex assemblycell wall organization or biogenesisnitrogen cycle metabolic processprotein localization to plasma membranedefense response to other organismdetoxificationmeiotic nuclear divisionmitotic nuclear divisionmitochondrial gene expressioncarbohydrate derivative metabolic processother biological processall cellular componentnuclear chromosomeextracellular regionextracellular spacecell wallnucleusnuclear envelopenucleoplasmchromosomenucleolusmitochondrionlysosomeendosomevacuoleperoxisomeendoplasmic reticulumgolgi apparatuslipid dropletmicrotubule organizing centercytosolribosomecytoskeletonplasma membraneciliumplastidthylakoidexternal encapsulating structureextracellular matrixcytoplasmic vesicleorganelleother cellular component
Cell color indicative of number of GO terms
AspectTerm
Cellular Componentapical plasma membrane
Cellular Componentcytoplasm
Cellular ComponentGolgi apparatus
Cellular Componentlysosomal membrane
Cellular Componentmelanosome
Cellular Componentmelanosome membrane
Cellular Componentmembrane
Cellular Componentplasma membrane
Molecular Functiondopamine binding
Molecular FunctionG protein-coupled receptor activity
Molecular FunctionL-DOPA binding
Molecular FunctionL-DOPA receptor activity
Molecular FunctionL-tyrosine binding
Biological Processeye pigment biosynthetic process
Biological ProcessG protein-coupled receptor signaling pathway
Biological Processmelanosome localization
Biological Processmelanosome organization
Biological Processmelanosome transport
Biological Processphospholipase C-activating G protein-coupled receptor signaling pathway
Biological Processregulation of calcium-mediated signaling
Biological Processregulation of melanosome organization
Biological Processregulation of melanosome transport
Biological Processsignal transduction
Biological Processvisual perception

Keywords

Enzyme and pathway databases

Protein family/group databases

Names & Taxonomy

Protein names

  • Recommended name
    G-protein coupled receptor 143
  • Alternative names
    • Ocular albinism type 1 protein

Gene names

    • Name
      GPR143
    • Synonyms
      OA1

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    P51810
  • Secondary accessions
    • Q6NTI7

Proteomes

Organism-specific databases

Subcellular Location

Melanosome membrane
; Multi-pass membrane protein
Lysosome membrane
; Multi-pass membrane protein
Apical cell membrane
; Multi-pass membrane protein
Note: Distributed throughout the endo-melanosomal system but most of endogenous protein is localized in unpigmented stage II melanosomes. Its expression on the apical cell membrane is sensitive to tyrosine (PubMed:18828673).

Features

Showing features for topological domain, transmembrane.

TypeIDPosition(s)Description
Topological domain1-28Extracellular
Transmembrane29-49Helical; Name=1
Topological domain50-78Cytoplasmic
Transmembrane79-99Helical; Name=2
Topological domain100-124Extracellular
Transmembrane125-145Helical; Name=3
Topological domain146-149Cytoplasmic
Transmembrane150-170Helical; Name=4
Topological domain171-191Extracellular
Transmembrane192-212Helical; Name=5
Topological domain213-248Cytoplasmic
Transmembrane249-269Helical; Name=6
Topological domain270-292Extracellular
Transmembrane293-313Helical; Name=7
Topological domain314-404Cytoplasmic

Keywords

Disease & Variants

Involvement in disease

Albinism ocular 1 (OA1)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    Form 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
    MIM:300500
Natural variants in OA1
Variant IDPosition(s)ChangeDescription
VAR_0181305R>Cin OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; lacks G protein-activation abilities; dbSNP:rs62635289
VAR_00550735G>Din OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635018
VAR_01813139L>Rin OA1; dbSNP:rs62635019
VAR_01813278D>Nin OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635024
VAR_01813378D>Vin OA1; dbSNP:rs62635025
VAR_06326480missingin OA1
VAR_06326581G>Vin OA1
VAR_00550884G>Din OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635027
VAR_00550984G>Rin OA1; dbSNP:rs62635026
VAR_063267116C>Gin OA1; dbSNP:rs62635030
VAR_005510116C>Rin OA1; dbSNP:rs62635030
VAR_018134116C>Sin OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635029
VAR_063268116C>Win OA1; dbSNP:rs1191147473
VAR_005511118G>Ein OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635031
VAR_018135124Q>Rin OA1; dbSNP:rs62635032
VAR_063269132W>Rin OA1; dbSNP:rs2146699615
VAR_005513133W>Rin OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs137852296
VAR_063270134L>Pin OA1
VAR_005514138A>Vin OA1; dbSNP:rs62635762
VAR_005515152S>Nin OA1; dbSNP:rs58933950
VAR_063271166T>Nin OA1
VAR_005516173A>Din OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635035
VAR_063272185E>Kin OA1
VAR_063273186R>Pin OA1
VAR_063274186R>Win OA1; dbSNP:rs199899645
VAR_018136229G>Vin OA1; not delivered at the cell surface of melanocytic and non-melanocytic cells; dbSNP:rs62635037
VAR_005517232T>Kin OA1; abnormal distribution of melanosomes; Not delivered at the cell surface of melanocytic and non-melanocytic cells; dbSNP:rs137852297
VAR_018137233E>Kin OA1; dbSNP:rs62635038
VAR_005518235E>Kin OA1; not delivered at the cell surface of melanocytic and non-melanocytic cells
VAR_018138244I>Vin OA1; not delivered at the cell surface of melanocytic and non-melanocytic cells; dbSNP:rs62635040
VAR_018139261I>Nin OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum
VAR_018140271E>Gin OA1; dbSNP:rs62635043
VAR_005519290missingin OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635044
VAR_018141292W>Cin OA1; dbSNP:rs62635046
VAR_005520292W>Gin OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635045

Nystagmus 6, congenital, X-linked (NYS6)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    A form of nystagmus, a 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
    MIM:300814
Natural variants in NYS6
Variant IDPosition(s)ChangeDescription
VAR_06326689S>Fin NYS6; dbSNP:rs137852298

Features

Showing features for natural variant, mutagenesis.

TypeIDPosition(s)Description
Natural variantVAR_0181305in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; lacks G protein-activation abilities; dbSNP:rs62635289
Natural variantVAR_00550735in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635018
Natural variantVAR_01813139in OA1; dbSNP:rs62635019
Natural variantVAR_01813278in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635024
Natural variantVAR_01813378in OA1; dbSNP:rs62635025
Natural variantVAR_06326480in OA1
Natural variantVAR_06326581in OA1
Natural variantVAR_00550884in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635027
Natural variantVAR_00550984in OA1; dbSNP:rs62635026
Natural variantVAR_06326689in NYS6; dbSNP:rs137852298
Natural variantVAR_063267116in OA1; dbSNP:rs62635030
Natural variantVAR_005510116in OA1; dbSNP:rs62635030
Natural variantVAR_018134116in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635029
Natural variantVAR_063268116in OA1; dbSNP:rs1191147473
Natural variantVAR_005511118in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635031
Natural variantVAR_018135124in OA1; dbSNP:rs62635032
Natural variantVAR_063269132in OA1; dbSNP:rs2146699615
Natural variantVAR_005513133in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs137852296
Natural variantVAR_063270134in OA1
Natural variantVAR_005514138in OA1; dbSNP:rs62635762
Natural variantVAR_005515152in OA1; dbSNP:rs58933950
Natural variantVAR_063271166in OA1
Natural variantVAR_005516173in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635035
Natural variantVAR_063272185in OA1
Natural variantVAR_063273186in OA1
Natural variantVAR_063274186in OA1; dbSNP:rs199899645
Mutagenesis223-224Delivered 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.
Natural variantVAR_018136229in OA1; not delivered at the cell surface of melanocytic and non-melanocytic cells; dbSNP:rs62635037
Natural variantVAR_005517232in OA1; abnormal distribution of melanosomes; Not delivered at the cell surface of melanocytic and non-melanocytic cells; dbSNP:rs137852297
Natural variantVAR_018137233in OA1; dbSNP:rs62635038
Natural variantVAR_005518235in OA1; not delivered at the cell surface of melanocytic and non-melanocytic cells
Natural variantVAR_018138244in OA1; not delivered at the cell surface of melanocytic and non-melanocytic cells; dbSNP:rs62635040
Natural variantVAR_018139261in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum
Natural variantVAR_018140271in OA1; dbSNP:rs62635043
Natural variantVAR_005519290in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635044
Natural variantVAR_018141292in OA1; dbSNP:rs62635046
Natural variantVAR_005520292in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635045
Mutagenesis329-330Mostly 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.

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 424 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Chemistry

Genetic variation databases

PTM/Processing

Features

Showing features for chain, modified residue (large scale data), glycosylation.

TypeIDPosition(s)SourceDescription
ChainPRO_00001950861-404UniProtG-protein coupled receptor 143
Modified residue (large scale data)23PRIDEPhosphoserine
Glycosylation106UniProtN-linked (GlcNAc...) asparagine
Modified residue (large scale data)331PRIDEPhosphoserine
Modified residue (large scale data)343PRIDEPhosphoserine

Post-translational modification

Glycosylated.
Phosphorylated.

Keywords

Proteomic databases

PTM databases

Expression

Tissue specificity

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.

Gene expression databases

Organism-specific databases

Interaction

Subunit

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

Binary interactions

TypeEntry 1Entry 2Number of experimentsIntact
BINARY P51810TYR P146794EBI-2509708, EBI-25397340

Protein-protein interaction databases

Miscellaneous

Structure

Family & Domains

Features

Showing features for region, motif, compositional bias.

TypeIDPosition(s)Description
Region221-238Necessary for its G protein-activation ability and normal distribution of melanosomes
Motif222-231lysosomal/melanosomal membrane localization signal
Motif329-330lysosomal/melanosomal membrane localization signal
Region338-404Disordered
Compositional bias355-393Polar residues

Domain

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 similarities

Keywords

Phylogenomic databases

Family and domain databases

Protein family/group databases

Sequence

  • Sequence status
    Complete
  • Length
    404
  • Mass (Da)
    43,878
  • Last updated
    1998-07-15 v2
  • Checksum
    20DEB20E80CC0E1D
MASPRLGTFCCPTRDAATQLVLSFQPRAFHALCLGSGGLRLALGLLQLLPGRRPAGPGSPATSPPASVRILRAAAACDLLGCLGMVIRSTVWLGFPNFVDSVSDMNHTEIWPAAFCVGSAMWIQLLYSACFWWLFCYAVDAYLVIRRSAGLSTILLYHIMAWGLATLLCVEGAAMLYYPSVSRCERGLDHAIPHYVTMYLPLLLVLVANPILFQKTVTAVASLLKGRQGIYTENERRMGAVIKIRFFKIMLVLIICWLSNIINESLLFYLEMQTDINGGSLKPVRTAAKTTWFIMGILNPAQGFLLSLAFYGWTGCSLGFQSPRKEIQWESLTTSAAEGAHPSPLMPHENPASGKVSQVGGQTSDEALSMLSEGSDASTIEIHTASESCNKNEGDPALPTHGDL

Computationally mapped potential isoform sequences

There are 2 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
C9J9N1C9J9N1_HUMANGPR143171
H7BZN6H7BZN6_HUMANGPR143267

Sequence caution

The sequence AAH68977.1 differs from that shown. Reason: Erroneous initiation Extended N-terminus.
The sequence CAA88742.1 differs from that shown. Reason: Erroneous initiation Extended N-terminus.
The sequence EAW98773.1 differs from that shown. Reason: Erroneous initiation Extended N-terminus.

Features

Showing features for compositional bias.

TypeIDPosition(s)Description
Compositional bias355-393Polar residues

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
Z48804
EMBL· GenBank· DDBJ
CAA88742.1
EMBL· GenBank· DDBJ
mRNA Different initiation
AC003036
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
AC090481
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
CH471074
EMBL· GenBank· DDBJ
EAW98773.1
EMBL· GenBank· DDBJ
Genomic DNA Different initiation
BC068977
EMBL· GenBank· DDBJ
AAH68977.1
EMBL· GenBank· DDBJ
mRNA Different initiation

Genome annotation databases

Similar Proteins

Disclaimer

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