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

    Gene ID: 4935, updated on 28-Oct-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_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_000023.11Genomic 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 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. New mutations identified in the ocular albinism type 1 gene. Roma C, et al. Gene, 2007 Nov 1. PMID 17822861
    2. GPR143 gene mutation analysis in pediatric patients with albinism. Trebušak Podkrajšek K, et al. Ophthalmic Genet, 2012 Sep. PMID 22486324
    3. The ocular albinism type 1 (OA1) GPCR is ubiquitinated and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function. Giordano F, et al. Proc Natl Acad Sci U S A, 2011 Jul 19. PMID 21730137, Free PMC Article
    4. A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus. Hu J, et al. Mol Vis, 2011 Mar 12. PMID 21423867, Free PMC Article
    5. GPR143 mutations in an X-linked infantile nystagmus syndrome cohort in Southeast China. Xu J, et al. Mol Vis, 2023. PMID 38222445, Free PMC Article

    See all (72) 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
    		not available
    Ocular albinism, type I
    MedGen: C0342684 OMIM: 300500 GeneReviews: Oculocutaneous Albinism and Ocular Albinism Overview
    		not available

    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 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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    NEW Try the new Transcript table

    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_2024_08

    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.

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