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FLASH GENE
Symbol ABCB5 contributors: mct - updated : 22-12-2021
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
    intraspecies paralog to ABCB1
    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
  • plays a key role in melanoma growth, and is a novel pro-metastasis factor
  • is a critical determinant of Colorectal cancer invasiveness
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ABCB5 is a direct target for MITF and its expression can be induced by CTNNB1, a key activator and co-factor for MITF and is associated with melanoma differentiation
  • 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
    SystemTypeDisorderPubmed
    cancerskin 
    potential therapeutic target for melanoma (PMID: 28821433)
    cancerdigestivecolon
    ABCB5 blockade might represent a strategy in Colorectal cancer therapy
    ANIMAL & CELL MODELS
  • Abcb5 loss of function in Abcb5 knockout mice causes depletion of quiescent limbal stem cells (LSCs), due to enhanced proliferation and apoptosis, and results in defective corneal differentiation and wound healing