GPR143
G-protein coupled receptor 143
Also known as: GP143_HUMAN, OA1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P51810
- Gene
- GPR143
- Ensembl
- ENSG00000101850
- Chromosome
- X
- Canonical length
- 404 aa
- Protein class
- Disease related genes, G-protein coupled receptors, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
- Subcellular location
- Nucleoplasm,Nuclear bodies,Golgi apparatus,Plasma membrane,Cell Junctions
OverviewNCBI Gene
This gene encodes a protein that binds to heterotrimeric G proteins and is targeted to melanosomes in pigment cells. This protein is thought to be involved in intracellular signal transduction mechanisms. Mutations in this gene cause ocular albinism type 1, also referred to as Nettleship-Falls type ocular albinism, a severe visual disorder. A related pseudogene has been identified on chromosome Y. [provided by RefSeq, Dec 2009]
Canonical amino-acid sequenceUniProt
404 residues, UniProt reviewed canonical sequence.
>P51810|GPR143
1 MASPRLGTFC CPTRDAATQL VLSFQPRAFH ALCLGSGGLR LALGLLQLLP GRRPAGPGSP
61 ATSPPASVRI LRAAAACDLL GCLGMVIRST VWLGFPNFVD SVSDMNHTEI WPAAFCVGSA
121 MWIQLLYSAC FWWLFCYAVD AYLVIRRSAG LSTILLYHIM AWGLATLLCV EGAAMLYYPS
181 VSRCERGLDH AIPHYVTMYL PLLLVLVANP ILFQKTVTAV ASLLKGRQGI YTENERRMGA
241 VIKIRFFKIM LVLIICWLSN IINESLLFYL EMQTDINGGS LKPVRTAAKT TWFIMGILNP
301 AQGFLLSLAF YGWTGCSLGF QSPRKEIQWE SLTTSAAEGA HPSPLMPHEN PASGKVSQVG
361 GQTSDEALSM LSEGSDASTI EIHTASESCN KNEGDPALPT HGDLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GPR143 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 7
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 23 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 23 nTPM
- basal ganglia: 10 nTPM
- skin: 8.5 nTPM
- cerebral cortex: 8.4 nTPM
- midbrain: 7.4 nTPM
- amygdala: 6.1 nTPM
Single-cell type
- melanocytes: 322 nCPM
- retinal pigment epithelial cells: 124 nCPM
- cytotrophoblasts: 57 nCPM
- migrating cytotrophoblasts: 45 nCPM
- choroid plexus epithelial cells: 26 nCPM
- proximal tubule cells: 23 nCPM
Immune cell
- basophil: 3.1 nTPM
- neutrophil: 0.3 nTPM
- classical monocyte: 0.1 nTPM
- eosinophil: 0.1 nTPM
- gdT-cell: 0.1 nTPM
- memory B-cell: 0.1 nTPM
Brain region
- midbrain: 15 nTPM
- choroid plexus: 15 nTPM
- hypothalamus: 13 nTPM
- basal ganglia: 12 nTPM
- medulla oblongata: 12 nTPM
- pons: 11 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GPR143.
Disease | AllUniProt
Conditions GPR143 is implicated in, by any mechanism.
- Albinism ocular 1 (OA1) MIM:300500
- Nystagmus 6, congenital, X-linked (NYS6) MIM:300814
Disease | GeneticClinVar
115 pathogenic / likely-pathogenic of 485 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Ocular albinism, type I
- Nystagmus 6, congenital, X-linked
- GPR143-related foveal hypoplasia
- GPR143-related disorder
- Inborn genetic diseases
Disease | ImmuneIEDB
Conditions an epitope on GPR143 was assayed in.
- melanoma T cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.37
- gnomAD pLI
- 0.93
- gnomAD missense Z
- 0.88
- DepMap mean gene effect
- 0.07
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- eye pigment biosynthetic process
- G protein-coupled receptor signaling pathway
- melanosome localization
- melanosome organization
- melanosome transport
- phospholipase C-activating G protein-coupled receptor signaling pathway
- regulation of melanosome organization
- signal transduction
- visual perception
- regulation of melanosome transport
Molecular functions
- dopamine binding
- G protein-coupled receptor activity
- L-tyrosine binding
- L-DOPA binding
- L-DOPA receptor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- G-protein coupled receptor 143
- Ocular albinism type 1 protein
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GPR143 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GPR143 as an antibody target. Whether an autoantibody or antibody against GPR143 could matter depends on whether native GPR143 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GPR143 is annotated at the cell surface, where native GPR143 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label GPR143 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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