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FLASH GENE
Symbol SLC45A2 contributors: mct/npt - updated : 10-03-2009
HGNC name solute carrier family 45, member 2
HGNC id 16472
Corresponding disease
OCA4 oculocutaneous albinism, type 4
Location 5p13.3      Physical location : 33.944.721 - 33.984.780
Synonym name
  • absent in melanoma
  • membrane associated transporter protein
  • underwhite
  • melanoma antigen AIM1
    • Synonym symbol(s) AIM1, MATP, AIM-1, 1A1, SHEP5
    DNA
    TYPE functioning gene
    STRUCTURE 40.06 kb     7 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1734 58.2 530 - Harada (2001)
    6 - 2769 51.1 460 - Harada (2001)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/lining   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentmelanocyte
    cell lineage
    cell lines melanoma cells
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • twelve transmembrane segments
  • cytoplasmic N and C termini, sucrose/proton symporter found in plants between TM2 and TM3
    • HOMOLOGY
    interspecies ortholog to murine underwhite Uw
    ortholog to medaka fish Aim1
    Homologene
    FAMILY
  • glycoside-pentoside-hexuronide (GPH) cation symporter transporter family
    • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    text in the melanosome membrane (Guedj 2008)
    basic FUNCTION
  • regulation of melanogenesis
  • may be transporting substances required for melanin biosynthesis
  • playing a crucial role in the processing and intracellular trafficking of tyrosinse as well as other melanosomal proteins
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS endocytosis transport
    text presumably mediating the transport of a critical substance across the melanosome membrane
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OCA4
    Susceptibility to melanoma
    Variant & Polymorphism SNP , other
  • associated with normal variation of pigmentation
  • variants protective for melanoma
  • rare allele L374 significantly increases the
    • possibility of having black hair colour (Branicki 2008)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS