GPR143 - G protein-coupled receptor 143 Gene

Also Known as OA1; NYS6

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4935

About GPR143

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:9,725,346-9,778,602 (from NCBI)

This gene has 5 transcripts (splice variants), 201 orthologues and is associated with 5 phenotypes. Broad expression in skin (RPKM 3.2), placenta (RPKM 2.0) and 16 other tissues.

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 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]

GPR143 Products (1)

mRNA	Protein	Name
NM_000273.3	NP_000264.2	G-protein coupled receptor 143

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables G protein-coupled receptor activity	IDA IDA: Inferred from direct assay	16524428	GOA
enables L-DOPA binding	IDA IDA: Inferred from direct assay	18828673	GOA
enables L-DOPA receptor activity	IDA IDA: Inferred from direct assay	18828673	GOA
enables L-tyrosine binding	IDA IDA: Inferred from direct assay	18828673	GOA
enables dopamine binding	IDA IDA: Inferred from direct assay	18828673	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16524428	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in G protein-coupled receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	18828673	GOA
involved in melanosome localization	IDA IDA: Inferred from direct assay	19717472	GOA
involved in melanosome organization	IMP IMP: Inferred from mutant phenotype	19717472	GOA
involved in melanosome transport	IDA IDA: Inferred from direct assay	19717472	GOA
involved in phospholipase C-activating G protein-coupled receptor signaling pathway	IDA IDA: Inferred from direct assay	16524428	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	19717472	GOA
located in apical plasma membrane	IDA IDA: Inferred from direct assay	18828673	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	16621890	GOA
located in melanosome	IDA IDA: Inferred from direct assay	10471510	GOA
located in melanosome membrane	IDA IDA: Inferred from direct assay	16621890	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	16524428	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GPR143 Protein Structure

Ocular_alb

0
100
200
300
404 a.a.

Protein Preferred Names	Protein Names
G-protein coupled receptor 143	ocular albinism 1

GPR143 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	GPR143	P51810	TYR	Homo sapiens	P14679	Confocal	27720922
Intra	GPR143	P51810	TYR	Homo sapiens	P14679	Anti Tag CoIP	27720922

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Albinism, Ocular, Type I	OA1 Nettleship-Falls Type Ocular Albinism Ocular Albinism Type 1 Ocular Albinism, Type I Ocular Albinism, Type I, Nettleship-Falls Type X-Linked Recessive Ocular Albinism Xloa X-Linked Ocular Albinism Ocular Albinism, Nettleship-Falls Type Albinism Ocular 1 Oa-1
Nystagmus 6, Congenital, X-Linked	NYS6 Congenital Nystagmus 6 X-Linked Congenital Nystagmus 6 Nystagmus Congenital X-Linked 6 Nystagmus, Type 6, Congenital, X-Linked
Ocular Albinism	Albinism, Ocular Oa Xloa Albinism Ocular
Albinism
Congenital Nystagmus	Nystagmus, Congenital Nystagmus Congenital
Astigmatism
Pathologic Nystagmus	Nystagmus
Nystagmus 7, Congenital, Autosomal Dominant	NYS7 Congenital Nystagmus 7 Autosomal Dominant Congenital Nystagmus 7
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Nystagmus 3, Congenital, Autosomal Dominant	NYS3 Congenital Nystagmus 3 Autosomal Dominant Congenital Nystagmus 3
Albinism, Oculocutaneous, Type Iv	OCA4 Oculocutaneous Albinism Type 4 Oculocutaneous Albinism, Type Iv Oculocutaneous Albinism Type Iv Albinism, Oculocutaneous, 4
Albinism, Oculocutaneous, Type Iii	Rufous Oculocutaneous Albinism Oculocutaneous Albinism Type 3 OCA3 Roca Xanthism Oculocutaneous Albinism Type Iii Albinism Iii Oculocutaneous Albinism, Type Iii Albinism 3 Albinism, Oculocutaneous, Type 3 Rufous Oca Red Oculocutaneous Albinism Xanthous Oculocutaneous Albinism Albinism, Oculocutaneous, 3 Oca-Iii
Albinism, Oculocutaneous, Type Ib	OCA1B Oculocutaneous Albinism Type 1b Albinism, Yellow Mutant Type Yellow Albinism Oculocutaneous Albinism Type Ib Temperature-Sensitive Oculocutaneous Albinism Type 1 Oculocutaneous Albinism, Type Ib Yellow Mutant Albinism Oca1-Ts Ts Oca Type 1 Oculocutaneous Albinism, Amish Type Platinum Oculocutaneous Albinism Yellow Oculocutaneous Albinism Albinism, Oculocutaneous, 1b Albinism Yellow Mutant Type Oca-Ib Oca-Its Oculocutaneous Albinism Type I Temperature-Sensitive Albinism, Oculocutaneous, Type I, Temperature-Sensitive Minimal Pigment Oculocutaneous Albinism
Ocular Motility Disease	Ocular Motility Disorders Abnormality Of Eye Movement Disorder Of Eye Movements Eye Movement Disorder Eye Movement Disorders
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia
Melanoma	Malignant Melanoma Cutaneous Melanoma Naevocarcinoma Malignant Melanomas
Robinow Syndrome, Autosomal Dominant 1	Autosomal Dominant Robinow Syndrome 1 DRS1 Robinow Dwarfism Fetal Face Syndrome Acral Dysostosis With Facial And Genital Abnormalities Robinow, Autosomal Dominant Syndrome, Type 1
Aland Island Eye Disease	AIED Forsius-Eriksson Type Ocular Albinism Forsius-Eriksson Syndrome Autoimmune Inner Ear Disease Forsius Eriksson Type Ocular Albinism Aland Islands Eye Disease Aaland Island Eye Disease Ocular Albinism, Type Ii
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
Retinal Degeneration	Degeneration Of Retina
Anterior Segment Dysgenesis	Anterior Segment Developmental Anomaly Anterior Segment Mesenchymal Dysgenesis Corneal Opacification And Other Ocular Anomalies Sclerocornea With Other Ocular Anomalies Asmd Asod Anterior Segment Ocular Dysgenesis Foxe3-Related Ocular Disorder Familial Ocular Anterior Segment Mesenchymal Dysgenesis Dysgenesis, Anterior Segment Irido-Corneal Dysgenesis Axenfeld-Rieger Syndrome, Type 3
Exotropia	Divergent Concomitant Strabismus Divergent Strabismus Divergent Squint External Strabismus Xt - [Exotropia]
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Aniridia 1	Aniridia Congenital Aniridia AN1 An Cataract With Late-Onset Corneal Dystrophy Aplasia Of Iris Absent Iris Irideremia Aniridia Ii, Formerly An2, Formerly An2 Aniridia Type Ii Aniridia, Type 1 An-1 Absence Of Iris Agenesis Of Iris Congenital Absence Of Iris Hereditary Aniridia Sporadic Aniridia
Hermansky-Pudlak Syndrome	Hps Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells Hermanski-Pudlak Syndrome Hermansky Pudlak Syndrome Platelet Storage Pool Deficiency
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Exudative Vitreoretinopathy	Familial Exudative Vitreoretinopathy Fevr Criswick-Schepens Syndrome Exudative Vitreoretinopathy, Familial Vitreoretinopathy, Exudative ) Exudative Vitreoretinopathy 1
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS05665	GPR143 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GPR143	MGD	MGI:107193
Canis familiaris	GPR143	VGNC	VGNC:110508
Rattus norvegicus	GPR143	RGD	RGD:1565799
Macaca mulatta	GPR143	VGNC	VGNC:72972
Bos taurus	GPR143	VGNC	VGNC:55027
Felis catus	GPR143	VGNC	VGNC:62676
Others	GPR143	NCBI