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FLASH GENE
Symbol MREG contributors: mct - updated : 01-02-2017
HGNC name melanoregulin
HGNC id 25478
Location 2q35      Physical location : 216.807.314 - 216.878.346
Synonym name
  • dilute suppressor
  • whn-dependent transcript 2
  • Synonym symbol(s) DSU, FLJ10116, MGC90296, WDT2
    DNA
    TYPE functioning gene
    STRUCTURE 71.03 kb     5 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 3213 - 214 - 2004 15550542
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    Digestiveliver   highly Homo sapiens
    Lymphoid/Immunethymus   highly Homo sapiens
    Skin/Tegumentskin   highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentmelanocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • melanoregulin family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    text localizes to small intracellular vesicles and associates with the endosomal phosphoinositide, phosphatidylinositol 3,5-biphosphate
    basic FUNCTION
  • involved in pigmentation of the mammalian hair
  • required in lysosome-dependent phagosome degradation and having a role in intracellular trafficking
  • function at a stage of the lysosome maturation process downstream of early endosomes likely at the late endosomes/lysosome stage
  • regulates microtubule-dependent retrograde melanosome transport through the dynein-dynactin motor complex
  • is a negative regulator of melanosome transfer
  • melanoregulin targeting to melanosomes and lysosomes requires N-terminal cysteines
  • functions as a negative regulator of a shedding mechanism that drives the intercellular transfer of melanosomes from the melanocyte to the keratinocyte
  • intracellular cargo-sorting protein required for the degradation of Photoreceptor outer segment (POS) disks
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • PRPH2 forms a complex with melanoregulin (MREG)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacted with the C-terminal domain of RILP and formed a complex with RILP and DCTN1 (dynein-dynactin motor complex recognizes MREG on mature melanosomes through interaction with RILP and is involved in the centripetal movement of melanosomes)
  • is likely required to maintain CTSD homeostasis in the RPE and likely plays a protective role in retinal health
  • cell & other
    REGULATION
    Other multiple palmitoylation serves to stably anchor melanoregulin in the melanosome membrane
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to age-related retinal changes
    Variant & Polymorphism other mutations in MREG may be a risk factor in age-related retinal changes
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS