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

Gene ID: 4935, updated on 11-Apr-2024

Summary

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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

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See GPR143 in Genome Data Viewer
Location:
Xp22.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (9725346..9778602, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (9307982..9361208, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (9693386..9733887, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985634 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:9382495-9382700 Neighboring gene chromodomain Y like protein pseudogene Neighboring gene MPRA-validated peak7356 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chrX:9420158-9420316 Neighboring gene Sharpr-MPRA regulatory region 2097 Neighboring gene Sharpr-MPRA regulatory region 7028 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:9431698-9432526 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20652 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9471641-9472141 Neighboring gene transducin beta like 1 X-linked Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:9490972-9491496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29402 Neighboring gene Sharpr-MPRA regulatory region 11092 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:9500568-9501137 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:9528031-9528532 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:9528533-9529032 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:9536306-9537137 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:9537138-9537968 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chrX:9554716-9555236 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chrX:9555237-9555756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9561459-9561960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9561961-9562460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9603687-9604186 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:9629664-9630863 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9650484-9650984 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:9675799-9676456 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:9676457-9677113 Neighboring gene uncharacterized LOC105373126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29403 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9732793-9733294 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:9761068-9761591 Neighboring gene shroom family member 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9793532-9794054 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:9800056-9800700 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:9800701-9801344 Neighboring gene Sharpr-MPRA regulatory region 9039 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:9811123-9812117 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9824841-9825341 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9827950-9828450 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9828451-9828951 Neighboring gene eukaryotic translation initiation factor 5 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9833462-9834428 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 33

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. GPR143 controls ESCRT-dependent exosome biogenesis and promotes cancer metastasis. Lee YJ, et al. Dev Cell, 2023 Feb 27. PMID 36800996
  2. GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism. Zhong J, et al. Ophthalmic Genet, 2021 Dec. PMID 34346269
  3. Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia. Mao X, et al. BMC Ophthalmol, 2021 Mar 30. PMID 33785018, Free PMC Article
  4. GPR143 Signaling and Retinal Degeneration. Figueroa AG, et al. Adv Exp Med Biol, 2019. PMID 31884582
  5. A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1. Gao X, et al. Mol Med Rep, 2020 Jan. PMID 31746431, Free PMC Article

See all (70) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. GPR143 controls ESCRT-dependent exosome biogenesis and promotes cancer metastasis.
    Title: GPR143 controls ESCRT-dependent exosome biogenesis and promotes cancer metastasis.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. reduced signaling of GPR143 may be a potential contributor to age-related macular degenerationpathogenesis [review]
    Title: GPR143 Signaling and Retinal Degeneration.
  9. 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.
  10. 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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 calcium-mediated signaling using intracellular calcium source IDA
Inferred from Direct Assay
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 calcium-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of calcium-mediated signaling 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

  1. NG_009074.1 RefSeqGene

    Range
    5031..45532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    9725346..9778602 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    9307982..9361208 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327138.1 → XP_054183113.1  G-protein coupled receptor 143 isoform X2

  2. XM_054327137.1 → XP_054183112.1  G-protein coupled receptor 143 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P51810.2 GenPept UniProtKB/Swiss-Prot:P51810

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Medical
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Research Materials
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