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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4935
Gene name Gene Name - the full gene name approved by the HGNC.	G protein-coupled receptor 143
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GPR143
Synonyms (NCBI Gene) Gene synonyms aliases	NYS6, OA1
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xp22.2
Summary Summary of gene provided in NCBI Entrez 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

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

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

Interactions

View interactions

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

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Nystagmus, Congenital, X-Linked	nystagmus 6, congenital, x-linked	rs137852298, rs1569118851	N/A
Ocular albinism	ocular albinism, type i	rs62635018, rs62645741, rs281865178, rs281865183, rs281865184, rs672601353, rs1057518787, rs137852296, rs137852297	N/A
Albinism	albinism	rs62635045, rs62635042	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Colorectal Cancer	Colorectal cancer	N/A	N/A	GWAS
Ocular Albinism, X-Linked	X-linked recessive ocular albinism	N/A	N/A	GenCC
Retinal Dystrophy	inherited retinal dystrophy	N/A	N/A	GenCC

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)