P51810 · GP143_HUMAN
- ProteinG-protein coupled receptor 143
- GeneGPR143
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids404 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
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 annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Molecular function
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameG-protein coupled receptor 143
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP51810
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
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.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Topological domain | 1-28 | Extracellular | ||||
Sequence: MASPRLGTFCCPTRDAATQLVLSFQPRA | ||||||
Transmembrane | 29-49 | Helical; Name=1 | ||||
Sequence: FHALCLGSGGLRLALGLLQLL | ||||||
Topological domain | 50-78 | Cytoplasmic | ||||
Sequence: PGRRPAGPGSPATSPPASVRILRAAAACD | ||||||
Transmembrane | 79-99 | Helical; Name=2 | ||||
Sequence: LLGCLGMVIRSTVWLGFPNFV | ||||||
Topological domain | 100-124 | Extracellular | ||||
Sequence: DSVSDMNHTEIWPAAFCVGSAMWIQ | ||||||
Transmembrane | 125-145 | Helical; Name=3 | ||||
Sequence: LLYSACFWWLFCYAVDAYLVI | ||||||
Topological domain | 146-149 | Cytoplasmic | ||||
Sequence: RRSA | ||||||
Transmembrane | 150-170 | Helical; Name=4 | ||||
Sequence: GLSTILLYHIMAWGLATLLCV | ||||||
Topological domain | 171-191 | Extracellular | ||||
Sequence: EGAAMLYYPSVSRCERGLDHA | ||||||
Transmembrane | 192-212 | Helical; Name=5 | ||||
Sequence: IPHYVTMYLPLLLVLVANPIL | ||||||
Topological domain | 213-248 | Cytoplasmic | ||||
Sequence: FQKTVTAVASLLKGRQGIYTENERRMGAVIKIRFFK | ||||||
Transmembrane | 249-269 | Helical; Name=6 | ||||
Sequence: IMLVLIICWLSNIINESLLFY | ||||||
Topological domain | 270-292 | Extracellular | ||||
Sequence: LEMQTDINGGSLKPVRTAAKTTW | ||||||
Transmembrane | 293-313 | Helical; Name=7 | ||||
Sequence: FIMGILNPAQGFLLSLAFYGW | ||||||
Topological domain | 314-404 | Cytoplasmic | ||||
Sequence: TGCSLGFQSPRKEIQWESLTTSAAEGAHPSPLMPHENPASGKVSQVGGQTSDEALSMLSEGSDASTIEIHTASESCNKNEGDPALPTHGDL |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Albinism ocular 1 (OA1)
- Note
- 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 alsoMIM:300500
Natural variants in OA1
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_018130 | 5 | R>C | in 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_005507 | 35 | G>D | in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635018 | |
VAR_018131 | 39 | L>R | in OA1; dbSNP:rs62635019 | |
VAR_018132 | 78 | D>N | in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635024 | |
VAR_018133 | 78 | D>V | in OA1; dbSNP:rs62635025 | |
VAR_063264 | 80 | missing | in OA1 | |
VAR_063265 | 81 | G>V | in OA1 | |
VAR_005508 | 84 | G>D | in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635027 | |
VAR_005509 | 84 | G>R | in OA1; dbSNP:rs62635026 | |
VAR_063267 | 116 | C>G | in OA1; dbSNP:rs62635030 | |
VAR_005510 | 116 | C>R | in OA1; dbSNP:rs62635030 | |
VAR_018134 | 116 | C>S | in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635029 | |
VAR_063268 | 116 | C>W | in OA1; dbSNP:rs1191147473 | |
VAR_005511 | 118 | G>E | in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635031 | |
VAR_018135 | 124 | Q>R | in OA1; dbSNP:rs62635032 | |
VAR_063269 | 132 | W>R | in OA1; dbSNP:rs2146699615 | |
VAR_005513 | 133 | W>R | in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs137852296 | |
VAR_063270 | 134 | L>P | in OA1 | |
VAR_005514 | 138 | A>V | in OA1; dbSNP:rs62635762 | |
VAR_005515 | 152 | S>N | in OA1; dbSNP:rs58933950 | |
VAR_063271 | 166 | T>N | in OA1 | |
VAR_005516 | 173 | A>D | in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635035 | |
VAR_063272 | 185 | E>K | in OA1 | |
VAR_063273 | 186 | R>P | in OA1 | |
VAR_063274 | 186 | R>W | in OA1; dbSNP:rs199899645 | |
VAR_018136 | 229 | G>V | in OA1; not delivered at the cell surface of melanocytic and non-melanocytic cells; dbSNP:rs62635037 | |
VAR_005517 | 232 | T>K | in OA1; abnormal distribution of melanosomes; Not delivered at the cell surface of melanocytic and non-melanocytic cells; dbSNP:rs137852297 | |
VAR_018137 | 233 | E>K | in OA1; dbSNP:rs62635038 | |
VAR_005518 | 235 | E>K | in OA1; not delivered at the cell surface of melanocytic and non-melanocytic cells | |
VAR_018138 | 244 | I>V | in OA1; not delivered at the cell surface of melanocytic and non-melanocytic cells; dbSNP:rs62635040 | |
VAR_018139 | 261 | I>N | in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum | |
VAR_018140 | 271 | E>G | in OA1; dbSNP:rs62635043 | |
VAR_005519 | 290 | missing | in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635044 | |
VAR_018141 | 292 | W>C | in OA1; dbSNP:rs62635046 | |
VAR_005520 | 292 | W>G | in 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
- DescriptionA 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 alsoMIM:300814
Natural variants in NYS6
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_063266 | 89 | S>F | in NYS6; dbSNP:rs137852298 |
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_018130 | 5 | in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; lacks G protein-activation abilities; dbSNP:rs62635289 | |||
Sequence: R → C | ||||||
Natural variant | VAR_005507 | 35 | in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635018 | |||
Sequence: G → D | ||||||
Natural variant | VAR_018131 | 39 | in OA1; dbSNP:rs62635019 | |||
Sequence: L → R | ||||||
Natural variant | VAR_018132 | 78 | in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635024 | |||
Sequence: D → N | ||||||
Natural variant | VAR_018133 | 78 | in OA1; dbSNP:rs62635025 | |||
Sequence: D → V | ||||||
Natural variant | VAR_063264 | 80 | in OA1 | |||
Sequence: Missing | ||||||
Natural variant | VAR_063265 | 81 | in OA1 | |||
Sequence: G → V | ||||||
Natural variant | VAR_005508 | 84 | in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635027 | |||
Sequence: G → D | ||||||
Natural variant | VAR_005509 | 84 | in OA1; dbSNP:rs62635026 | |||
Sequence: G → R | ||||||
Natural variant | VAR_063266 | 89 | in NYS6; dbSNP:rs137852298 | |||
Sequence: S → F | ||||||
Natural variant | VAR_063267 | 116 | in OA1; dbSNP:rs62635030 | |||
Sequence: C → G | ||||||
Natural variant | VAR_005510 | 116 | in OA1; dbSNP:rs62635030 | |||
Sequence: C → R | ||||||
Natural variant | VAR_018134 | 116 | in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635029 | |||
Sequence: C → S | ||||||
Natural variant | VAR_063268 | 116 | in OA1; dbSNP:rs1191147473 | |||
Sequence: C → W | ||||||
Natural variant | VAR_005511 | 118 | in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635031 | |||
Sequence: G → E | ||||||
Natural variant | VAR_018135 | 124 | in OA1; dbSNP:rs62635032 | |||
Sequence: Q → R | ||||||
Natural variant | VAR_063269 | 132 | in OA1; dbSNP:rs2146699615 | |||
Sequence: W → R | ||||||
Natural variant | VAR_005513 | 133 | in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs137852296 | |||
Sequence: W → R | ||||||
Natural variant | VAR_063270 | 134 | in OA1 | |||
Sequence: L → P | ||||||
Natural variant | VAR_005514 | 138 | in OA1; dbSNP:rs62635762 | |||
Sequence: A → V | ||||||
Natural variant | VAR_005515 | 152 | in OA1; dbSNP:rs58933950 | |||
Sequence: S → N | ||||||
Natural variant | VAR_063271 | 166 | in OA1 | |||
Sequence: T → N | ||||||
Natural variant | VAR_005516 | 173 | in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635035 | |||
Sequence: A → D | ||||||
Natural variant | VAR_063272 | 185 | in OA1 | |||
Sequence: E → K | ||||||
Natural variant | VAR_063273 | 186 | in OA1 | |||
Sequence: R → P | ||||||
Natural variant | VAR_063274 | 186 | in OA1; dbSNP:rs199899645 | |||
Sequence: R → W | ||||||
Mutagenesis | 223-224 | 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. | ||||
Sequence: LL → AA | ||||||
Natural variant | VAR_018136 | 229 | in OA1; not delivered at the cell surface of melanocytic and non-melanocytic cells; dbSNP:rs62635037 | |||
Sequence: G → V | ||||||
Natural variant | VAR_005517 | 232 | in OA1; abnormal distribution of melanosomes; Not delivered at the cell surface of melanocytic and non-melanocytic cells; dbSNP:rs137852297 | |||
Sequence: T → K | ||||||
Natural variant | VAR_018137 | 233 | in OA1; dbSNP:rs62635038 | |||
Sequence: E → K | ||||||
Natural variant | VAR_005518 | 235 | in OA1; not delivered at the cell surface of melanocytic and non-melanocytic cells | |||
Sequence: E → K | ||||||
Natural variant | VAR_018138 | 244 | in OA1; not delivered at the cell surface of melanocytic and non-melanocytic cells; dbSNP:rs62635040 | |||
Sequence: I → V | ||||||
Natural variant | VAR_018139 | 261 | in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum | |||
Sequence: I → N | ||||||
Natural variant | VAR_018140 | 271 | in OA1; dbSNP:rs62635043 | |||
Sequence: E → G | ||||||
Natural variant | VAR_005519 | 290 | in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635044 | |||
Sequence: Missing | ||||||
Natural variant | VAR_018141 | 292 | in OA1; dbSNP:rs62635046 | |||
Sequence: W → C | ||||||
Natural variant | VAR_005520 | 292 | in OA1; results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum; dbSNP:rs62635045 | |||
Sequence: W → G | ||||||
Mutagenesis | 329-330 | 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. | ||||
Sequence: WE → AA |
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.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue (large scale data), glycosylation.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000195086 | 1-404 | UniProt | G-protein coupled receptor 143 | |||
Sequence: MASPRLGTFCCPTRDAATQLVLSFQPRAFHALCLGSGGLRLALGLLQLLPGRRPAGPGSPATSPPASVRILRAAAACDLLGCLGMVIRSTVWLGFPNFVDSVSDMNHTEIWPAAFCVGSAMWIQLLYSACFWWLFCYAVDAYLVIRRSAGLSTILLYHIMAWGLATLLCVEGAAMLYYPSVSRCERGLDHAIPHYVTMYLPLLLVLVANPILFQKTVTAVASLLKGRQGIYTENERRMGAVIKIRFFKIMLVLIICWLSNIINESLLFYLEMQTDINGGSLKPVRTAAKTTWFIMGILNPAQGFLLSLAFYGWTGCSLGFQSPRKEIQWESLTTSAAEGAHPSPLMPHENPASGKVSQVGGQTSDEALSMLSEGSDASTIEIHTASESCNKNEGDPALPTHGDL | |||||||
Modified residue (large scale data) | 23 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Glycosylation | 106 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Modified residue (large scale data) | 331 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 343 | PRIDE | Phosphoserine | ||||
Sequence: S |
Post-translational modification
Glycosylated.
Phosphorylated.
Keywords
- PTM
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
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | P51810 | TYR P14679 | 4 | EBI-2509708, EBI-25397340 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, motif, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 221-238 | Necessary for its G protein-activation ability and normal distribution of melanosomes | ||||
Sequence: ASLLKGRQGIYTENERRM | ||||||
Motif | 222-231 | lysosomal/melanosomal membrane localization signal | ||||
Sequence: SLLKGRQGIY | ||||||
Motif | 329-330 | lysosomal/melanosomal membrane localization signal | ||||
Sequence: WE | ||||||
Region | 338-404 | Disordered | ||||
Sequence: EGAHPSPLMPHENPASGKVSQVGGQTSDEALSMLSEGSDASTIEIHTASESCNKNEGDPALPTHGDL | ||||||
Compositional bias | 355-393 | Polar residues | ||||
Sequence: KVSQVGGQTSDEALSMLSEGSDASTIEIHTASESCNKNE |
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
Belongs to the G-protein coupled receptor OA family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Protein family/group databases
Sequence
- Sequence statusComplete
- Length404
- Mass (Da)43,878
- Last updated1998-07-15 v2
- Checksum20DEB20E80CC0E1D
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Sequence caution
Features
Showing features for compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 355-393 | Polar residues | ||||
Sequence: KVSQVGGQTSDEALSMLSEGSDASTIEIHTASESCNKNE |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
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 |