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FLASH GENE
Symbol ABCB1 contributors: mct - updated : 19-08-2008
HGNC name ATP-binding cassette, sub-family B (MDR/TAP), member 1
HGNC id 40
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
27 - 4872 141 1280 - -
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
  • 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
  • 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
    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