Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4935
Gene name	G protein-coupled receptor 143
Gene symbol	GPR143
Synonyms (NCBI Gene)	NYS6OA1
Chromosome	X
Chromosome location	Xp22.2
Summary	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

Show/Hide all (13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs58933950	C>T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs62635018	C>T	Not-provided, pathogenic	Coding sequence variant, intron variant, missense variant
rs62635024	C>T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs62635037	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs137852296	A>G,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs137852297	G>A,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs137852298	G>A	Pathogenic	Coding sequence variant, missense variant
rs672601353	->C	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1057518164	CGCGGGCC>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1057518787	CAGCAGAAGGTCCCTAGGCGCGGGG>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1057520200	A>G	Pathogenic	Initiator codon variant, intron variant, missense variant
rs1569118851	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601880424	A>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (10)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019367	hsa-miR-148b-3p	Microarray	17612493
MIRT1030563	hsa-miR-3675-5p	CLIP-seq
MIRT1030564	hsa-miR-3915	CLIP-seq
MIRT1030565	hsa-miR-3928	CLIP-seq
MIRT1030566	hsa-miR-4649-3p	CLIP-seq
MIRT1030567	hsa-miR-615-5p	CLIP-seq
MIRT1030568	hsa-miR-627	CLIP-seq
MIRT1030569	hsa-miR-653	CLIP-seq
MIRT1030570	hsa-miR-924	CLIP-seq
MIRT2005768	hsa-miR-3677-5p	CLIP-seq

Show/Hide all (50)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IDA	16524428
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	TAS	10471510
GO:0005515	Function	Protein binding	IPI	16524428, 19717472, 27720922
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	TAS	10471510
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	16621890
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA	19717472
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	16524428
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006726	Process	Eye pigment biosynthetic process	TAS	7647783
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	10471510
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IMP	18828673
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IDA	16524428
GO:0007218	Process	Neuropeptide signaling pathway	IEA
GO:0007601	Process	Visual perception	TAS	7647783
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	7647783, 10471510
GO:0016324	Component	Apical plasma membrane	IDA	18828673
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0030054	Component	Cell junction	IDA
GO:0032400	Process	Melanosome localization	IDA	19717472
GO:0032402	Process	Melanosome transport	IDA	19717472
GO:0032438	Process	Melanosome organization	IBA
GO:0032438	Process	Melanosome organization	IMP	19717472
GO:0033162	Component	Melanosome membrane	IBA
GO:0033162	Component	Melanosome membrane	IDA	16621890
GO:0033162	Component	Melanosome membrane	IEA
GO:0035240	Function	Dopamine binding	IBA
GO:0035240	Function	Dopamine binding	IDA	18828673
GO:0035240	Function	Dopamine binding	IEA
GO:0035643	Function	L-DOPA receptor activity	IBA
GO:0035643	Function	L-DOPA receptor activity	IDA	18828673
GO:0042470	Component	Melanosome	IDA	10471510
GO:0072544	Function	L-DOPA binding	IBA
GO:0072544	Function	L-DOPA binding	IDA	18828673
GO:0072544	Function	L-DOPA binding	IEA
GO:0072545	Function	L-tyrosine binding	IBA
GO:0072545	Function	L-tyrosine binding	IDA	18828673
GO:0072545	Function	L-tyrosine binding	IEA
GO:1902908	Process	Regulation of melanosome transport	IEA
GO:1903056	Process	Regulation of melanosome organization	IEA

MIM	HGNC	e!Ensembl
300808	20145	ENSG00000101850

P51810

Protein name

G-protein coupled receptor 143 (Ocular albinism type 1 protein)

Protein function

Receptor for tyrosine, L-DOPA and dopamine. After binding to L-DOPA, stimulates Ca(2+) influx into the cytoplasm, increases secretion of the neurotrophic factor SERPINF1 and relocalizes beta arrestin at the plasma membrane; this ligand-dependent

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02101	Ocular_alb	1 → 396	Ocular albinism type 1 protein	Family

Tissue specificity

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:0000269|PubMed:18828673, ECO:0000269|PubMed:7647783}.

Sequence

MASPRLGTFCCPTRDAATQLVLSFQPRAFHALCLGSGGLRLALGLLQLLPGRRPAGPGSP
ATSPPASVRILRAAAACDLLGCLGMVIRSTVWLGFPNFVDSVSDMNHTEIWPAAFCVGSA
MWIQLLYSACFWWLFCYAVDAYLVIRRSAGLSTILLYHIMAWGLATLLCVEGAAMLYYPS
VSRCERGLDHAIPHYVTMYLPLLLVLVANPILFQKTVTAVASLLKGRQGIYTENERRMGA
VIKIRFFKIMLVLIICWLSNIINESLLFYLEMQTDINGGSLKPVRTAAKTTWFIMGILNP
AQGFLLSLAFYGWTGCSLGFQSPRKEIQWESLTTSAAEGAHPSPLMPHENPASGKVSQVG
GQTSDEALSMLSEGSDASTIEIHTASESCNKNEGDPALPTHGDL

Sequence length

404

Interactions

View interactions

	Reactome
			Amine ligand-binding receptors G alpha (q) signalling events

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Albinism	Pathogenic; Likely pathogenic	rs62635045, rs62635042	RCV000504645 RCV000505015
GPR143-related disorder	Pathogenic; Likely pathogenic	rs2146684328, rs2518642062, rs2518642504	RCV003401740 RCV003398480 RCV003393049
GPR143-related foveal hypoplasia	Likely pathogenic; Pathogenic	rs281865178, rs62635045, rs2518622665	RCV006249586 RCV006249587 RCV004786817
Nystagmus	Likely pathogenic; Pathogenic	rs1057518787	RCV000414936
Nystagmus 6, congenital, X-linked	Likely pathogenic; Pathogenic	rs2083394185, rs281865178, rs2518626831, rs137852296, rs137852298, rs2518642062, rs2146705597, rs2518638150, rs1569118851	RCV005040165 RCV005042200 RCV006275896 RCV006275855 RCV000011268 RCV000011270 RCV000011271 RCV003236748 RCV000760161
Ocular albinism	Likely pathogenic; Pathogenic	rs1057518787	RCV000414936
Ocular albinism, type I	Likely pathogenic; Pathogenic	rs2083394185, rs62645741, rs281865178, rs281865183, rs281865184, rs2146687459, rs62635030, rs2146699664, rs2146700764, rs2146705998, rs1251267106, rs2083438278, rs2146691632, rs672601353, rs2518642442 View all (7 more)	RCV004690072 RCV002280778 RCV001824020 RCV002280779 RCV001808320 RCV001542633 RCV001542634 RCV001591942 RCV001754544 RCV003882738 RCV005868441 RCV002086747 RCV002250915 RCV000149456 RCV002472047 RCV006275896 RCV000011260 RCV000011262 RCV000011264 RCV000011265 RCV000011267 RCV005930807 RCV002291275 RCV001171312
Reduced eye contact	Likely pathogenic; Pathogenic	rs1057518787	RCV000414936
Retinal disorder	Pathogenic	rs1057518164	RCV006273018

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs151226761	RCV005906162
Clear cell carcinoma of kidney	Benign	rs151226761	RCV005906163
Familial cancer of breast	Benign	rs151226761	RCV005906161
Lung cancer	Benign	rs151226761	RCV005906164
Nonpapillary renal cell carcinoma	Uncertain significance	rs374879794	RCV005930599

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Albinism	Associate	21541274, 30679655, 35488210, 39201349
Albinism Ocular	Associate	18978956, 20806075, 21423867, 21541274, 22916221, 24006264, 24301936, 26061757, 27367509, 28211458, 28234808, 30679655, 31719542, 33808351, 35686978, 35704304 View all (1 more)
Albinism Oculocutaneous	Associate	20806075, 30679655
Blue cone monochromatism	Associate	34445325
Choroiditis	Associate	31746431
Colorectal Neoplasms	Associate	24760461
Eye Abnormalities	Associate	28632878
Eye Diseases	Associate	30513407
Foveal Hypoplasia Isolated	Associate	33785018
Hypopigmentation	Associate	21541274, 27367509, 28211458, 33785018, 38222445
Macular Degeneration	Associate	21541274, 22916221
Myopia	Associate	37749571, 38243264
Nystagmus 1 congenital X linked	Associate	27958203
Nystagmus Congenital	Associate	18523664, 19390656, 21541274, 27958203, 28339057
Nystagmus Pathologic	Associate	18978956, 28211458, 33785018, 38222445
O'Donnell Pappas syndrome	Associate	18978956, 24301936, 28211458, 33785018, 34445325, 38222445
Ocular Albinism type 1	Associate	18978956, 22916221, 27367509, 28211458, 28339057, 28632878, 30513407, 31746431, 33785018, 35686978, 38222445
Photophobia	Associate	28211458
Piebaldism	Associate	31719542
Pigmentation Disorders	Associate	27829444
Plaque Atherosclerotic	Associate	28211458
Retinitis	Associate	31746431
Retinoblastoma	Associate	34187205
Stargardt Disease	Associate	27367509
Vision Disorders	Associate	28211458, 33785018
Vision Low	Associate	38222445
Vitiligo	Associate	32756109
X Linked Infantile Nystagmus	Associate	18523664, 19390656, 21423867, 24434814, 27958203, 29145603, 31495972, 38222445

GPR143 (G protein-coupled receptor 143)