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FLASH GENE
Symbol ABCG1 contributors: mct/ - updated : 19-06-2015
HGNC name ATP-binding cassette, sub-family G (WHITE), member 1
HGNC id 73
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   highly
Endocrinepancreas     Mus musculus
Lymphoid/Immunethymus   highly
Nervousbrain   highly Mus musculusFetal
Skin/Tegument    moderately Mus musculus
Urinarykidney   moderately
Visualeye   moderately Mus musculusFetal
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier liningepidermis   Homo sapiensFetal
Nervouscentral    Mus musculus
Nervousperipherous    Mus musculus
cells
SystemCellPubmedSpeciesStageRna symbol
Endocrineislet cell (alpha,beta...) Mus musculus
Lymphoid/Immunemacrophage
cell lineage
cell lines
fluid/secretion moderately in blood
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an ABC transporter domain
  • a single ATP binding domain
  • six potential transmembrane segment
  • a Walker A motif
  • critical residues within the TM domains that are both essential for sterol transport and conserved in some other members of the ABCG subfamily
  • C-terminal transmembrane domain region of ABCG1 is essential for cellular localization and function
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to rattus Abcg1 (96.9 pc)
    homolog to murine Abcg1 (96.9 pc)
    Homologene
    FAMILY
  • ATP-binding cassette (ABC) transporter superfamily
  • ABCG (WHITE) subfamily
  • eye pigment precursor importer subfamily
  • CATEGORY regulatory , transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • concentrated in secretory granules of pancreatic beta-cells
  • its function is dependent on localization to intracellular endosomes
  • associated with endosomal vesicles and is undetectable at the cell surface
  • basic FUNCTION
  • having an ATPase activity coupled to transmembrane movement of substances
  • potentially involved in macrophage lipid homeostasis
  • having a regulatory function in cholesterol and phospholipid transport
  • playing a critical role in controlling tissue lipid level by mediating the transfert of cellular cholesterol to HDL
  • involved in detection of hormone stimulus
  • plays essential roles in pulmonary lipid homeostasis
  • modulates the subcellular distribution and proteolytic processing of beta-amyloid precursor protein
  • increases the availability of APP as a secretase substrate for both the amyloidogenic and nonamyloidogenic pathways
  • important negative regulator of lymphocyte proliferation through the maintenance of cellular cholesterol homeostasis
  • role of ABCG1 in the regulation of lipid homeostasis and inflammation in aortic endothelial cells
  • ABCA1, ABCG1, and HDL inhibit the proliferation of hematopoietic stem and multipotential progenitor cells and connect expansion of these populations with leukocytosis and accelerated atherosclerosis
  • potential role of ABCG1 in normal lamellar body formation and secretion
  • plays an important role in macrophage reverse cholesterol transport thereby reducing atherosclerosis
  • intracellular sterol transporter that localizes to endocytic vesicles to facilitate the redistribution of specific intracellular sterols away from the endoplasmic reticulum (ER)
  • important function of ABCG1 is to maintain normal sterol levels in endocytic vesicles in part by facilitating the flux of specific sterols away from the endoplasmic reticulum
  • ABCA1 and ABCG1 each make complimentary and important contributions to beta-cell function by maintaining islet cholesterol homeostasis
  • is a novel integrator of cholesterol homeostasis and adaptive immune programs
  • changes in intracellular cholesterol homeostasis by ABCG1 profoundly impact invariant NKT cell development and function
  • important for the formation of HDL
  • is potentially an active lipid transporter and possesses different binding sites for cholesterol and sphingomyelin, which may be synergistically coupled
  • ABCA1, ABCG1, and ABCG4 are localized to distinct membrane meso-domains and disturb the meso-domain structures by reorganizing lipids on the plasma membrane
  • ABCA1 and ABCG1, are essential for maintaining lipid homeostasis in cells such as macrophages by exporting excess cholesterol to extracellular acceptors
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text
  • small molecule transport
  • lipid homeostasis, cholesterol homeostasis
  • L-tryptophan transporter
  • purine nucleotide transporter
  • PATHWAY
    metabolism lipid/lipoprotein
    signaling
    cholesterol metabolic process
    a component
  • may form heterodimers with several heterologous partners of the ABCG subfamily
  • being an active component of the macrophage lipid export complex
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • protein
  • selective requirement of GPS2 for ABCG1 cholesterol transporter gene transcription and cholesterol efflux from macrophages
  • EDN1 decreases ABCG1 possibly due to the enhancement of the proteosome/calpain pathway-dependent degradation of ABCG1
  • S100A12, S100A8, S100A9 has no direct effect on cholesterol efflux in macrophages, but rather promotes the secretion of IL22, which then directly reduces cholesterol efflux in macrophages by decreasing the expression of ABCG1
  • CAV1 interacts with ABCG1 and regulates ABCG1-mediated cholesterol efflux
  • cell & other
    REGULATION
    activated by cholesterol loading and activators of liver X receptors (LXRs) and retinoid X receptors (RXRs) through genomic sequences that have not been fully characterized
    induced by the liver X receptor/retinoid X receptor (LXR/RXR) pathway
    repressed by ZNF202
    unsaturated fatty acids, via a mechanism which involves the binding of LXR/RXR to the promoters
    Other regulated by cholesterol uptake or HDL-mediated lipid release
    strongly induced in monocyte-derived macrophages during cholesterol influx
    regulated by insulin
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    overexpressed in macrophages from patients with Tangier disease
    tumoral     --over  
    in squamous cell carcinoma of the head and neck
    constitutional     --over  
    transcriptional upregulation by oxysterols in macrophages and liver, two key tissues where ABCG1 expression may affect cholesterol balance and atherogenesis
    constitutional   amplification    
    altered cholesterol metabolism and APP trafficking mediated by ABCG1 may contribute to the accelerated onset of AD neuropathology in Down syndrome
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • deletion of the transmembrane transporter ABCG1 results in progressive pulmonary lipidosis in mouse
  • Abcg1(-/-) mice display IL17-mediated suppression of eosinophilia and enhancement of neutrophilia in the airway following allergen sensitization and challenge (