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FLASH GENE
Symbol ABCB4 contributors: mct - updated : 28-06-2015
HGNC name ATP-binding cassette, sub-family B (MDR/TAP), member 4
HGNC id 45
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
28 - 3967 140.6 1279 - 2004 15258199
28 splicing 3988 - 1286 - 2004 15258199
an alternate in-frame splice site in the 3' coding region
27 splicing 3826 - 1232 - 2004 15258199
lacking an alternate in-frame exon
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveliver     Homo sapiens
Endocrineadrenal gland    
 pancreas    
Reproductivemale systemtestis   
cells
SystemCellPubmedSpeciesStageRna symbol
Digestivehepatocyte Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • ABC transporter, traffic ATPase with two ATP binding
  • two transmembrane (2TM) domains (2x6 segments), localized to the hepatocyte canalicular membrane
  • conjugated GlycoP
    HOMOLOGY
    intraspecies homolog to ABCB1
    Homologene
    FAMILY
  • ATP binding cassette superfamily
  • subfamily B (MDR/TAP)
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • involved in phosphatidylcholine translocation into the bile
  • critical trans-locator for phospholipids across canalicular membranes of hepatocytes
  • liver-specific membrane transporter of phosphatidylcholine, a major and exclusive component of bile
  • translocates phosphatidylcholine from the inner to the outer leaflet of the canalicular membrane
  • ABCB4 and ATP8B1 cooperate to protect hepatocytes from bile salts
  • might play a critical role in glucose homeostasis
  • plays an important role in protecting the liver from bile acids
  • may be involved in the transport of a broad array of drugs, because ABCB4 shows high amino acid homology to ABCB1 that plays an important role in transporting of various clinical drugs such as digoxin and paclitaxel
  • located in nonrafts, but not in rafts, is predominantly involved in the efflux of phospholipids and other substrates
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NFYA, NFYB, NFYC can act as a transcriptional activator of ABCB4
  • interaction of ABCB4 with SLC9A3R1 through its PDZ-like motif plays a critical role in the regulation of ABCB4 expression and stability at the canalicular plasma membrane
  • cell & other
    REGULATION
    Other ABCB4 activity is regulated by phosphorylation, in particular, of N-terminal residues
    ASSOCIATED DISORDERS
    corresponding disease(s) PFIC3 , LPAC
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    cause intrahepatic cholestasis of pregnancy, with normal gamma-GT and may be associated with stillbirths and gallstone disease
    constitutional germinal mutation      
    splicing mutations cause intrahepatic cholestasis of pregnancy in women with high gamma-glutamyl transpeptidase (Tavian 2009)
    Susceptibility
  • to drug-induced cholestasis
  • to higher BMI and triglyceride and cholesterol levels
  • to to drug-induced cholestatic liver injury
  • Variant & Polymorphism SNP , other
  • polylmorphisms increasing drug-induced cholestasis (Lang 2007)
  • SNP C.504C > T associated with higher BMI and triglyceride and cholesterol levels (Acalovschi 2009)
  • g.-1584C>T and g.-1014A>G, may be associated with a susceptibility. to drug-induced cholestatic liver injury
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS