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FLASH GENE
Symbol MREG contributors: mct - updated : 01-02-2017
HGNC name melanoregulin
HGNC id 25478
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