GPR143 G protein-coupled receptor 143 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GPR143provided by HGNC
Official Full Name: G protein-coupled receptor 143provided by HGNC
Primary source: HGNC:HGNC:20145
See related: Ensembl:ENSG00000101850 MIM:300808; AllianceGenome:HGNC:20145
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OA1; NYS6
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]
Expression: Broad expression in skin (RPKM 3.2), placenta (RPKM 2.0) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp22.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (9725346..9778602, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (9307982..9361208, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (9693386..9733887, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GPR143 mutations in an X-linked infantile nystagmus syndrome cohort in Southeast China.
Title: GPR143 mutations in an X-linked infantile nystagmus syndrome cohort in Southeast China.
L-DOPA Receptor GPR143 Functionally Couples with Adrenergic alpha1B Receptor at the Second Transmembrane Interface.
Title: L-DOPA Receptor GPR143 Functionally Couples with Adrenergic α(1B) Receptor at the Second Transmembrane Interface.
GPR143 controls ESCRT-dependent exosome biogenesis and promotes cancer metastasis.
Title: GPR143 controls ESCRT-dependent exosome biogenesis and promotes cancer metastasis.
GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism.
Title: GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism.
Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia.
Title: Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia.
The mutation c.360+5G>T in the GPR143 gene was identified in this family. In conclusion, the present study identified the splicing mutation c.360+5G>T in the GPR143 gene in a Chinese family with Ocular albinism type 1 and successfully identified the site.
Title: A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1.
Pathogenic variants in the GPR143 gene may disturb the normal melanogenesis in the pigmented tissues of the eye, result in macular hypoplasia, and alter the thickness of the iris.
Title: Evaluation of the iris thickness changes for the Chinese families with GPR143 gene mutations.
reduced signaling of GPR143 may be a potential contributor to age-related macular degenerationpathogenesis [review]
Title: GPR143 Signaling and Retinal Degeneration.
GPR143 deletion is associated with Ocular albinism with infertility and late-onset sensorineural hearing loss.
Title: Ocular albinism with infertility and late-onset sensorineural hearing loss.
These studies corroborate RPE melanin as the major source of NIR-AF but also indicate that bisretinoid lipofuscin, when present at sufficient concentrations, contributes to the NIR-AF signal. Ocular melanin attenuates the SW-AF signal.
Title: Mutations in GPR143/OA1 and ABCA4 Inform Interpretations of Short-Wavelength and Near-Infrared Fundus Autofluorescence.

Submit: New GeneRIF Correction See all GeneRIFs (54)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Nystagmus 6, congenital, X-linked MedGen: C3151752 OMIM: 300814 GeneReviews: Not available	Compare labs
Ocular albinism, type I MedGen: C0342684 OMIM: 300500 GeneReviews: Oculocutaneous Albinism and Ocular Albinism Overview	Compare labs

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC140306P1 (e-PCR)
- UniSTS:270932

GDB:591575 (e-PCR)
- UniSTS:157896

GDB:591618 (e-PCR)
- UniSTS:157897

SGC31598 (e-PCR)
- UniSTS:10467

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables L-DOPA binding	IBA Inferred from Biological aspect of Ancestor more info
enables L-DOPA binding	IDA Inferred from Direct Assay more info	PubMed
enables L-DOPA receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-DOPA receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables L-tyrosine binding	IBA Inferred from Biological aspect of Ancestor more info
enables L-tyrosine binding	IDA Inferred from Direct Assay more info	PubMed
enables dopamine binding	IBA Inferred from Biological aspect of Ancestor more info
enables dopamine binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in eye pigment biosynthetic process	TAS Traceable Author Statement more info	PubMed
involved_in melanosome localization	IDA Inferred from Direct Assay more info	PubMed
involved_in melanosome organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in melanosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in melanosome transport	IDA Inferred from Direct Assay more info	PubMed
involved_in neuropeptide signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of melanosome organization	IEA Inferred from Electronic Annotation more info
involved_in regulation of melanosome transport	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in visual perception	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in melanosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in melanosome membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in melanosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: G-protein coupled receptor 143

Names: ocular albinism 1; ocular albinism type 1 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009074.1 RefSeqGene

Range

5031..45532

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000273.3 → NP_000264.2 G-protein coupled receptor 143

See identical proteins and their annotated locations for NP_000264.2

Status: REVIEWED

Source sequence(s)

AC003036, BU188283, Z48804

Consensus CDS

CCDS14134.2

UniProtKB/Swiss-Prot

P51810, Q6NTI7

Related

ENSP00000417161.1, ENST00000467482.6

Conserved Domains (1) summary

pfam02101
Location:1 → 396

Ocular_alb; Ocular albinism type 1 protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

9725346..9778602 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024452388.2 → XP_024308156.1 G-protein coupled receptor 143 isoform X2

UniProtKB/TrEMBL

H7BZN6

Related

ENSP00000390546.2, ENST00000447366.5

Conserved Domains (1) summary

pfam02101
Location:1 → 312

Ocular_alb; Ocular albinism type 1 protein
XM_005274541.4 → XP_005274598.1 G-protein coupled receptor 143 isoform X1

Conserved Domains (1) summary

pfam02101
Location:1 → 374

Ocular_alb; Ocular albinism type 1 protein