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FLASH GENE
Symbol ABCB5 contributors: mct - updated : 11-10-2013
HGNC name ATP-binding cassette, sub-family B (MDR/TAP), member 5
HGNC id 46
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two ATP binding and two transmembrane (2TM) domains (2 x 6 segments)
  • an ABC transmembrane type-1 domain
  • two transmembrane and two nucleotide-binding domains
  • HOMOLOGY
    Homologene
    FAMILY ATP binding cassette superfamily, subfamily B (MDR/TAP)
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • plasma membrane transporter able to mediate efflux from cells of the rhodamine dye and of the therapeutic drug doxorubicin
  • functions as a determinant of membrane potential and regulator of cell fusion in physiologic skin progenitor cells
  • responsible for the resistance to doxorubicin of a subset of malignant melanomas
  • full-sized ABC transporter that confers anticancer drug resistance
  • acts as an energy-dependent drug efflux transporter and marks tumour cells of a putative cancer stem cell (CSC) compartment
  • its expression is closely linked to tumorigenicity and progression of diverse human malignancies, including melanoma, and is functionally required for tumor growth
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in melanomas
    tumoral     --over  
    significantly associated with tumour progression and recurrence of the oral squamous cell carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS