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

    Gene ID: 4935, updated on 22-Apr-2017
    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; Vega:OTTHUMG00000021118
    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]
    Orthologs
    Location:
    Xp22.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (9725413..9765965, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (9693453..9734005, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985634 Neighboring gene chromodomain Y-like protein pseudogene Neighboring gene transducin beta like 1X-linked Neighboring gene uncharacterized LOC105373126 Neighboring gene uncharacterized LOC107985658 Neighboring gene shroom family member 2 Neighboring gene eukaryotic translation initiation factor 5 pseudogene 1

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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: Ocular Albinism, X-Linked
    Compare labs

    NHGRI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    NHGRI GWA Catalog
    • Amine ligand-binding receptors, organism-specific biosystem (from REACTOME)
      Amine ligand-binding receptors, organism-specific biosystemThe class A (rhodopsin-like) GPCRs that bind to classical biogenic amine ligands are annotated here. The amines involved (acetylcholine, adrenaline, noradrenaline, dopamine, serotonin and histamine)...
    • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
      Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
    • GPCR ligand binding, organism-specific biosystem (from REACTOME)
      GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
    • GPCRs, Other, organism-specific biosystem (from WikiPathways)
      GPCRs, Other, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.gpcr.org/7tm/ (originally at http://www.cmbi.kun.nl/7tm/). The groupings are based on the GPCR phylogenetic tree available fr...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    G-protein coupled receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    L-DOPA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    L-DOPA receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dopamine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    tyrosine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    G-protein coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    G-protein coupled receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    calcium-mediated signaling using intracellular calcium source IDA
    Inferred from Direct Assay
    more info
    PubMed 
    eye pigment biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    melanosome localization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    melanosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    melanosome transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuropeptide signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol-mediated signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of calcium-mediated signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of melanosome organization IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of melanosome transport IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    visual perception TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosome IEA
    Inferred from Electronic Annotation
    more info
     
    melanosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    melanosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    G-protein coupled receptor 143
    Names
    ocular albinism 1
    ocular albinism type 1 protein

    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
      4913..45465
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000273.2NP_000264.2  G-protein coupled receptor 143

      See identical proteins and their annotated locations for NP_000264.2

      Status: REVIEWED

      Source sequence(s)
      BC068977, BU188283, Z48804
      Consensus CDS
      CCDS14134.2
      UniProtKB/Swiss-Prot
      P51810
      Related
      ENSP00000417161.1, OTTHUMP00000022884, ENST00000467482.5, OTTHUMT00000055714
      Conserved Domains (1) summary
      pfam02101
      Location:1396
      Ocular_alb; Ocular albinism type 1 protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      9725413..9765965 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005274541.3XP_005274598.1  G-protein coupled receptor 143 isoform X1

      Conserved Domains (1) summary
      pfam02101
      Location:1374
      Ocular_alb; Ocular albinism type 1 protein

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      9723929..9764313 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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