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FLASH GENE
Symbol ABCB1 contributors: mct - updated : 07-09-2020
HGNC name ATP-binding cassette, sub-family B (MDR/TAP), member 1
HGNC id 40
Location 7q21.12      Physical location : 87.132.947 - 87.342.564
Synonym name
  • P glycoprotein 1
  • multiple drug resistance 1
  • CD243 antigen
  • colchicin sensitivity
  • doxorubicin resistance
  • Synonym symbol(s) MDR1, PGY1, CLCS, P-gp, ABC20, CD243, GP170, MGC163296, IBD13
    EC.number 3.6.3.44/ 7.6.2.1/7.6.2.2
    DNA
    TYPE functioning gene
    STRUCTURE 210.28 kb     27 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    regionally located P-glycoprotein with a Y-box sequence 5' - CTGATTGG - 3' in its cis-regulatory elements
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    29 - 4872 141 1280 - 2007 17954267
    30 - 5387 - 1281 - 2007 17954267
    32 - 5586 - 1350 - 2007 17954267
    28 - 5205 - 1280 - 2007 17954267
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine   
     liver    
    Endocrineadrenal gland   predominantly
    Nervousbrain    
     nerve   highly
    Reproductivefemale systemuterus  moderately
     male systemtestis  moderately Homo sapiens
    Respiratoryrespiratory tracttrachea  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    ReproductiveSertoli cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text neural stem, progenitor cells
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two ATP binding and two transmembrane (2TM) domains (2 x 6 segments)
  • two hydrophobic and hydrophilic domains linked by a highly charged region of approximately 90 AAs, the "linker domain" mediating protein interactions
  • lipid translocase of broad specificity
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to rattus Abcb1a (87.6 pc)
    homolog to murine Abcb1a (87.5 pc)
    Homologene
    FAMILY
  • ABC (ATP binding cassette) transporter superfamily
  • multidrug resistance exporter (TC 3.A.1.201) subfamily
  • subfamily B (MDR/TAP)
  • CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • ABC transporter, traffic ATPase, emergy-dependent efflux pump responsible for decreased drug accumulation in multidrug resistant cells
  • potentially implicated in cholesterol transport
  • may maintain neural stem/progenitor cells in an undifferentiated state and could be a neural stem/progenitor marker
  • cause multidrug resistance in tumor cell lines selected with lipophilic anticancer drugs
  • drug efflux transporter expressed in various tissues and playing an important role in the absorption and elimination of many drugs and xenobiotics
  • is involved in BTB (blood–testis barrier) restructuring during spermatogenesis but ABCB1–mediated restructuring does not “open up” the BTB to make it freely permeable to drugs
  • innate immune inflammatory response in the trabecular meshwork (TM) may play a role in the ABCB1 detoxification of potentially harmful constituents in the aqueous humor (pMID: 25802484)
  • important and selective elements of the blood-brain barrier (BBB), that actively contribute to brain homeostasis
  • ABCB1 is involved in neo-absorbed vitamin D efflux by the enterocytes and it also contributes to vitamin D transintestinal excretion and likely impacts vitamin D status
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text cholesterol transport
    PATHWAY
    metabolism
    signaling
    a component
  • ABCB1 and an integrated component of the occludin/zonula occludens 1 (TJP1) adhesion complex at the BTB, structurally interacted with PTK2, creating the OCLN/TJP1/PTK2/ABCB1 regulatory complex
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • protein
  • APEX1 stably interacts with Y-box-binding protein 1 (YBX1), and acts as its coactivator for the expression of multidrug resistance gene ABCB1, thereby causing drug resistance
  • involved in regulating BTB dynamics, likely via its interaction with PTK2, which modulates the phosphorylation status of the OCLN/TJP1 protein complex
  • PPP2R3C negatively regulates ABCB1 expression and function
  • ABCB1 functional activity is affected by TLR4 agonists suggesting that modulation of TLR4 is important in ABCB1 function
  • crucial role of ABCB1 in the APP transport and oxidative stress may interfere with this process
  • cell & other
    REGULATION
    activated by function can be stimulated in the presence of cholesterol
    induced by THRA, THRB (induces ABCB1 gene expression in a thyroid hormone (TH)-dependent manner)
    Other upregulated by P/CAF : NFY heterodimer
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   amplification    
    amplified in sarcoma cell lines
    tumoral     --over  
    in acute myeloid leukemia and cancer cell lines
    tumoral     --low  
    low ABCB1/low BAALC expression identifies a subgroup of intermediate cytogenetic risk AML patients with a remarkably good long-term outcome achieved by chemotherapy alone
    tumoral     --low  
    in breast tumors was associated with triple-negative subtype
    tumoral     --low  
    may promote colorectal carcinogenesis through increasing intracellular exposure to carcinogenic ABCB1 substrates
    Susceptibility
  • to inflammatory bowel disease(IBD)
  • to renal epithelial tumors
  • Variant & Polymorphism other Ala893 increases the risk of IBD
    C3435T increases the risk of renal tumors
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS