GPR143 (G protein-coupled receptor 143)

Gene

• Entrez ID: 4935
• Gene name: G protein-coupled receptor 143
• Gene symbol: GPR143
• Synonyms (NCBI Gene): NYS6, OA1
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 300808
• HGNC: 20145
• e!Ensembl: ENSG00000101850

Protein

• UniProt ID: 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

Pathways

Reactome:

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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Albinism	Pathogenic; Likely pathogenic	rs62635045, rs62635042	RCV000504645 RCV000505015	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GPR143-related disorder	Pathogenic; Likely pathogenic	rs2146684328, rs2518642062, rs2518642504	RCV003401740 RCV003398480 RCV003393049	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GPR143-related foveal hypoplasia	Likely pathogenic; Pathogenic	rs281865178, rs62635045, rs2518622665	RCV006249586 RCV006249587 RCV004786817	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus	Likely pathogenic; Pathogenic	rs1057518787	RCV000414936	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ocular albinism	Likely pathogenic; Pathogenic	rs1057518787	RCV000414936	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ocular albinism, type I	Likely pathogenic; Pathogenic	rs2083394185, rs62645741, rs281865178, rs281865183, rs281865184, rs2146687459, rs62635030, rs2146699664, rs2146700764, rs2146705998, rs1251267106, rs2083438278, rs2146691632, rs672601353, rs2518642442, rs2518626831, rs2518622680, rs137852296, rs137852297, rs62635018, rs2518641943, rs1057518787	RCV004690072 RCV002280778 RCV001824020 RCV002280779 RCV001808320 RCV001542633 RCV001542634 RCV001591942 RCV001754544 RCV003882738 RCV005868441 RCV002086747 RCV002250915 RCV000149456 RCV002472047 RCV006275896 RCV000011260 RCV000011262 RCV000011264 RCV000011265 RCV000011267 RCV005930807 RCV002291275 RCV001171312	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Reduced eye contact	Likely pathogenic; Pathogenic	rs1057518787	RCV000414936	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal disorder	Pathogenic	rs1057518164	RCV006273018	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR ALBINISM TYPE 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED RECESSIVE OCULAR ALBINISM	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	22634755		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	31606330		★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	Pubtator	21541274, 30679655, 35488210, 39201349	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Albinism	Albinism	BEFREE	22486324, 25060099		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Albinism	Albinism	CLINVAR_DG	8634705		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Albinism Ocular	Ocular albinism	Pubtator	1355560, 15965158, 18978956, 20806075, 21423867, 21541274, 22916221, 24006264, 24301936, 26061757, 27367509, 28211458, 28234808, 30679655, 31719542, 33808351, 35686978, 35704304, 7915878, 8230160, 8301646, 9529334	Associate	★☆☆☆☆ Found in Text Mining only
Albinism Oculocutaneous	Oculocutaneous albinism	Pubtator	20806075, 30679655	Associate	★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	BEFREE	11115845, 12868035, 15965158, 16550551, 17516023, 17960122, 19123159, 19610097, 20649618, 21264491, 21541274, 22916221, 24301936, 24526317, 24736838, 25060099, 25690007, 26061757, 28211458		★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	LHGDN	11793467, 12868035, 16754205, 17516023, 17960122		★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	20806075, 23668539, 25060099		★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	BEFREE	21264491		★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blue cone monochromatism	Blue cone monochromatism	Pubtator	34445325	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASDB_DG	22634755		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	22634755		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	22634755		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24760461	Associate	★☆☆☆☆ Found in Text Mining only
Congenital nystagmus	Congenital nystagmus	BEFREE	12515581, 16754205, 17516023, 18523664, 19390656		★☆☆☆☆ Found in Text Mining only
Congenital nystagmus	Congenital nystagmus	LHGDN	16754205, 17516023, 18523664		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	15965158		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG	19390656		★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	28632878	Associate	★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	15965158, 30513407	Associate	★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperopic astigmatism	Hyperopic astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	11520764, 19604113		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann syndrome	Pubtator	8301646	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	11520764, 21541274, 22916221	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	22634755		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	22634755		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	12538723		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	12538723	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	37749571, 38243264	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Idiopathic infantile nystagmus	Nystagmus	Orphanet			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	11520764, 19604113, 20649618, 26160353		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus	Nystagmus	GENOMICS_ENGLAND_DG	19390656		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus	Nystagmus	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus	Nystagmus	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus 1 congenital X linked	Nystagmus	Pubtator	27958203	Associate	★☆☆☆☆ Found in Text Mining only
NYSTAGMUS 6, CONGENITAL, X-LINKED	Nystagmus, Congenital, X-Linked	UNIPROT_DG	17516023		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NYSTAGMUS 6, CONGENITAL, X-LINKED	Nystagmus, Congenital, X-Linked	GENOMICS_ENGLAND_DG	19390656, 21541274		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NYSTAGMUS 6, CONGENITAL, X-LINKED	Nystagmus, Congenital, X-Linked	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NYSTAGMUS 6, CONGENITAL, X-LINKED	Nystagmus, Congenital, X-Linked	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nystagmus Congenital	Nystagmus	Pubtator	18523664, 19390656, 21541274, 27958203, 28339057	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	18978956, 28211458, 33785018, 38222445	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus-induced head nodding	Nystagmus-induced head nodding	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ocular Albinism type 1	Ocular albinism	Pubtator	11520764, 18978956, 22916221, 2573275, 27367509, 27607449, 28211458, 28339057, 28632878, 30513407, 31746431, 33785018, 35686978, 38222445	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ocular albinism, type I	Ocular albinism	BEFREE	11115845, 11214907, 11405065, 11793467, 12180081, 12515581, 12868035, 16550551, 16754205, 17960122, 18978956, 19123159, 19604113, 19610097, 20649618, 21423867, 21541274, 22916221, 24301936, 27607449, 27720922, 28211458, 28339057, 28632878, 30160833, 30679655, 31574285, 31719542, 31746431, 9887374		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ocular albinism, type I	Ocular albinism	UNIPROT_DG	11115845, 11214907, 16524428, 16621890, 16646960, 17822861, 17960122, 18697795, 18978956, 8634705, 9529334, 9887374		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ocular albinism, type I	Ocular albinism	GENOMICS_ENGLAND_DG	19390656, 21541274		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ocular albinism, type I	Ocular albinism	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ocular albinism, type I	Ocular albinism	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ocular albinism, type I	Ocular albinism	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculocutaneous albinism type 2	Oculocutaneous albinism	BEFREE	20806075		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	27607449	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30590075, 31632270		★☆☆☆☆ Found in Text Mining only
Patterned dystrophy of retinal pigment epithelium	Patterned macular dystrophy	Pubtator	15965158	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	31606330		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	34187205	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	30160833		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stargardt Disease	Stargardt disease	Pubtator	27367509	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	28211458, 33785018, 9529334	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	32756109	Associate	★☆☆☆☆ Found in Text Mining only
X-linked recessive ocular albinism	Ocular Albinism, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations