• Gene id: 4935

Gene Summary

• Gene Symbol: GPR143   Gene   UCSC   Ensembl
• Aliases: NYS6, OA1
• Gene name: G protein-coupled receptor 143
• Alternate names: G-protein coupled receptor 143, ocular albinism 1, ocular albinism type 1 protein,
• Gene location: Xp22.2 (9786259: 9725345)     Exons: 12     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 311240

Protein Summary

• Protein general information: P51810  
  • Name: G protein coupled receptor 143 (Ocular albinism type 1 protein)
  • Length: 404  
  • Mass: 43878
  • 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. {ECO
• Sequence:

  MASPRLGTFCCPTRDAATQLVLSFQPRAFHALCLGSGGLRLALGLLQLLPGRRPAGPGSPATSPPASVRILRAAA
  ACDLLGCLGMVIRSTVWLGFPNFVDSVSDMNHTEIWPAAFCVGSAMWIQLLYSACFWWLFCYAVDAYLVIRRSAG
  LSTILLYHIMAWGLATLLCVEGAAMLYYPSVSRCERGLDHAIPHYVTMYLPLLLVLVANPILFQKTVTAVASLLK
  GRQGIYTENERRMGAVIKIRFFKIMLVLIICWLSNIINESLLFYLEMQTDINGGSLKPVRTAAKTTWFIMGILNP
  AQGFLLSLAFYGWTGCSLGFQSPRKEIQWESLTTSAAEGAHPSPLMPHENPASGKVSQVGGQTSDEALSMLSEGS
  DASTIEIHTASESCNKNEGDPALPTHGDL

• Structural information:
  • Interpro: IPR001414  
  • DIP: 53284
  • STRING: ENSP00000417161
• Other Databases: GeneCards:  GPR143  Malacards:  GPR143

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0072545	tyrosine binding	IBA	molecular function
GO:0072544	L-DOPA binding	IBA	molecular function
GO:0050848	regulation of calcium-mediated signaling	IBA	biological process
GO:0035643	L-DOPA receptor activity	IBA	molecular function
GO:0035240	dopamine binding	IBA	molecular function
GO:0033162	melanosome membrane	IBA	cellular component
GO:0032438	melanosome organization	IBA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0035584	calcium-mediated signaling using intracellular calcium source	IDA	biological process
GO:0032402	melanosome transport	IDA	biological process
GO:0032400	melanosome localization	IDA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0072545	tyrosine binding	IDA	molecular function
GO:0072544	L-DOPA binding	IDA	molecular function
GO:0050848	regulation of calcium-mediated signaling	IDA	biological process
GO:0048015	phosphatidylinositol-mediated signaling	IDA	biological process
GO:0042470	melanosome	IDA	cellular component
GO:0035643	L-DOPA receptor activity	IDA	molecular function
GO:0035240	dopamine binding	IDA	molecular function
GO:0033162	melanosome membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0004930	G protein-coupled receptor activity	IDA	molecular function
GO:0032438	melanosome organization	IMP	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0035240	dopamine binding	IEA	molecular function
GO:0072544	L-DOPA binding	IEA	molecular function
GO:0072545	tyrosine binding	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0004930	G protein-coupled receptor activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0006726	eye pigment biosynthetic process	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0007601	visual perception	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1902908	regulation of melanosome transport	IEA	biological process
GO:1903056	regulation of melanosome organization	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0033162	melanosome membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0007218	neuropeptide signaling pathway	IEA	biological process
GO:0007218	neuropeptide signaling pathway	IEA	biological process

Diseases

Associated diseases	References
Congenital motor nystagmus	KEGG:H00776
Ocular albinism	KEGG:H00169
Congenital motor nystagmus	KEGG:H00776
Ocular albinism	KEGG:H00169
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray