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FLASH GENE
Symbol GPR143 contributors: mct/npt/pgu - updated : 28-05-2010
HGNC name G protein-coupled receptor 143
HGNC id 20145
Corresponding disease
DELXPM chromosome Xp terminal deletion in males
NYS6 nystagmus 6, congenital
OA1 albinism, ocular, type 1
Location Xp22.2      Physical location : 9.693.453 - 9.734.005
Synonym name
  • pigment cell integral membrane protein
  • ocular albinism type 1 protein
  • ocular albinism 1 (Nettleship-Falls)
  • G-protein coupled receptor 143
    • Synonym symbol(s) OA1
    DNA
    TYPE functioning gene
    STRUCTURE 40.46 kb     9 Exon(s)
    regulatory sequence Promoter
    text structure
  • tissue-specific control lies within a region of 617 bp that contains the E-box bound by MITF
  • cell-specific expression of the promoter in the eye
    • MAPPING cloned Y linked Y status confirmed
    Map pter - DXS8051 - DXS7103 - GPR143 - DXS7108 - DXS1043 - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1607 - 424 - 1995 7647783
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Skin/Tegumentskin    
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/liningretinal pigment epithelium (RPE)  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentmelanocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • seven transmembrane segments (7TM)
  • a long cytoplasmic tail
  • multiple unconventional signals responsible for its lysosomal and melanosomal localization (
    • conjugated GlycoP , ubiquitinated
    HOMOLOGY
    interspecies ortholog to Gpr143, Mus musculus
    ortholog to Gpr143, Rattus norvegicus
    ortholog to gpr143, Danio rerio
    ortholog to GPR143, Pan troglodytes
    Homologene
    FAMILY
  • G protein-coupled receptor superfamily
    • CATEGORY receptor membrane G
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,lysosome
    text
  • targeted to the membrane of the intracellular melanosomes
  • localizes intracellularly to melanosomes to regulate their biogenesis
    • basic FUNCTION
  • playing a role in the eye pigment biosynthesis
  • involved in the regulation of melanosome maturation at two steps, controls the abundance of melanosomes in RPE cells and at later stages has a function in the maintenance of a correct melanosomal size
  • implicated in organelle biogenesis
  • a selective L-DOPA receptor
  • key player in the biogenesis of melanosomes
  • pigment cell-specific glycoprotein with structural and functional features of GPCRs
  • functions together with MLANA to maintain melanosome composition and identity within the endocytic system
  • a key player in the biogenesis of melanosomes
  • functions early in melanosome biogenesis controlling not only melanosome size but also melanosome composition, and thereby appropriate maturation
  • melanosome-associated G-protein-coupled receptor involved in melanosome biogenesis during melanocyte differentiation
  • its expression rescues melanosome biogenesis, activates MITF expression and thereby coordinates melanosome size and number, providing a quality control mechanism for the organelle in which resides
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    photoreception
    a component
  • constituent of pigment cell integral membrane protein
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • a target of MITF
  • interacts biochemically with the premelanosomal protein MLANA
  • selective L-DOPA receptor whose downstream effects govern spatial patterning of the developing retina
  • interacts with arrestins and binds heterotrimeric G proteins
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OA1 , DELXPM , NYS6
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    melanoma
    constitutional       loss of function
    leading to the formation of macromelanosomes
    constitutional       loss of function
    reduces both the basal expression and cAMP-dependent induction of the microphthalmia-associated transcription factor (MITF), the master regulator of melanocyte differentiation, leading to a significant reduction in expression of PMEL, a major melanosomal structural protein
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Oa1-deficient mice display hypopigmentation of the ocular fundus with a reduction in the size of the uncrossed pathway demonstrating a misrouting of the optic fibres at the chiasm (
  • Oa1-knock-out mice have abnormality in melanosome distribution both in retinal pigment epithelium and skin melanocytes