Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
Symbol ABCG1 contributors: mct/ - updated : 19-06-2015
HGNC name ATP-binding cassette, sub-family G (WHITE), member 1
HGNC id 73
Location 21q22.3      Physical location : 43.619.798 - 43.717.352
Synonym name
  • ABC transporter 8
  • white protein homolog (ATP-binding cassette transporter 8)
  • ATP-binding cassette transporter member 1 of subfamily G
  • White protein homolog
  • Synonym symbol(s) WHL, ABC8, WHITE1, ABG1, MGC34313, WHT1
    TYPE functioning gene
    STRUCTURE 97.56 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (TATA box)
    Binding site   HRE
    text structure
  • sp1 binding sites
  • sterol regulatory element binding protein
  • RXR and nuclear factor kappa B binding sites
  • two liver X receptor(LXR) alpha response element (LXRE) activating an internal promoter, that modulate expression in macrophages and liver
  • two separate promoters, upstream of exons 1 and 5 or 8, respectively
  • promoter upstream of exon 1 containing putative binding sites for SP1 and nuclear factor kappaB (NF-kappaB)
  • promoter upstream of exon 5 or 8 containing 19 possible SP1 binding sites, one possible SRE, two possible NF-kappaB, and two putative RXR binding sites
  • MAPPING cloned Y linked   status provisional
    TRANSCRIPTS type messenger
    text utilizing multiple promoters and alternative splicing to produce multiples isoforms
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 splicing 3018 75 678 - 2005 16054053
  • differing in the 5' end-region compared to variant 1 which includes a part of the coding region
  • 15 exons
  • 15 splicing 2982 74 666 located at the cell surface 2006 16870176
  • differing in the 5' end-region compared to variant 1 which includes a part of the coding region
  • 15 exons
  • having the ability to form cholesterol transport competent homodimers which affect cellular cholesterol export in a similar manner as previously characterized forms of ABCG1
  • 15 splicing 2983 75 677 - 2005 16054053
  • differing in the 5' end-region compared to variant 1 which includes a part of the coding region
  • 15 exons
  • 16 splicing 3142 74 668 - 2005 16054053
  • differing in the 5' end-region compared to variant 1 which includes a part of the coding region
  • 16 exons
  • 17 splicing 3060 71 644 - 2005 16054053
  • differing in the 5' end-region compared to variant 1 which includes a part of the coding region
  • 17 exons
  • 15 splicing 2946 73.9 663 - 2005 16054053
  • differing in the 5' end-region compared to variant 1 which includes a part of the coding region
  • 15 exons
    Type widely
       expressed in (based on citations)
    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
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningepidermis   Homo sapiensFetal
    Nervouscentral    Mus musculus
    Nervousperipherous    Mus musculus
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...) Mus musculus
    cell lineage
    cell lines
    fluid/secretion moderately in blood
    at STAGE
  • 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
    interspecies homolog to rattus Abcg1 (96.9 pc)
    homolog to murine Abcg1 (96.9 pc)
  • ATP-binding cassette (ABC) transporter superfamily
  • ABCG (WHITE) subfamily
  • eye pigment precursor importer subfamily
  • CATEGORY regulatory , transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
  • 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
  • small molecule transport
  • lipid homeostasis, cholesterol homeostasis
  • L-tryptophan transporter
  • purine nucleotide transporter
    metabolism lipid/lipoprotein
    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
    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
  • HUWE1 and NEDD4, are involved in the post-translational regulation of the ABCG1 and ABCG4 lipid transporters
  • cell & other
    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
    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
    Variant & Polymorphism
    Candidate gene
    Therapy target
  • 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 (