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ABCG1 Gene

protein-coding   GIFtS: 64
GCID: GC21P043619

ATP-Binding Cassette, Sub-Family G (WHITE), Member 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
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Aliases
ATP-Binding Cassette, Sub-Family G (WHITE), Member 11 2     ATP-Binding Cassette Sub-Family G Member 12
ATP-Binding Cassette Transporter 81 2 3     ATP-Binding Cassette Transporter Member 1 Of Subfamily G2
ABC82 3 5     Homolog Of Drosophila White2
White Protein Homolog (ATP-Binding Cassette Transporter 8)2 11     WHT13
WHITE12 5     White Protein Homolog3
ABC Transporter 82     

External Ids:    HGNC: 731   Entrez Gene: 96192   Ensembl: ENSG000001601797   OMIM: 6030765   UniProtKB: P458443   

Export aliases for ABCG1 gene to outside databases

Previous GC identifers: GC21P040187 GC21P042514 GC21P042533 GC21P042496 GC21P042492 GC21P029038


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ABCG1 Gene:
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC
proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven
distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White
subfamily. It is involved in macrophage cholesterol and phospholipids transport, and may regulate cellular lipid
homeostasis in other cell types. Six alternative splice variants have been identified. (provided by RefSeq, Jul
2008)

GeneCards Summary for ABCG1 Gene:
ABCG1 (ATP-binding cassette, sub-family G (WHITE), member 1) is a protein-coding gene. Diseases associated with ABCG1 include blue color blindness, and tangier disease. GO annotations related to this gene include phospholipid binding and protein homodimerization activity. An important paralog of this gene is ABCG8.

UniProtKB/Swiss-Prot: ABCG1_HUMAN, P45844
Function: Transporter involved in macrophage lipid homeostasis. Is an active component of the macrophage lipid
export complex. Could also be involved in intracellular lipid transport processes. The role in cellular lipid
homeostasis may not be limited to macrophages

Gene Wiki entry for ABCG1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence:
NC_000021.9  NC_018932.2  NT_011512.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the ABCG1 gene promoter:
         CREB   AhR   Tal-1beta   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ABCG1 promoter sequence

   Search Chromatin IP Primers for ABCG1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABCG1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
ABCG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCG1 gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P043619:   GeneLoc Nature:405,311-319
Start:
43,619,799 bp from pter       29,186,705 bp from centromere
End:
43,717,354 bp from pter 29,264,680 bp from centromere
Size:
97,556 bases 77,976 bases
Orientation:
plus strand plus strand

Whole chromosome sequencing:
cDNA sequence: X91249
genomic clones: KB1430A10 KB169B4


(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ABCG1_HUMAN, P45844 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family G member 1  
Size: 678 amino acids; 75592 Da
Subunit: May form heterodimers with several heterologous partners of the ABCG subfamily
Miscellaneous: A protein of the expected size has been detected by antibody binding and Western blot in at least
one of the analyzed tissues or cells (PubMed:22042635)
Sequence caution: Sequence=AAC51098.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAK28841.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA95530.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB13728.2; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=CAA62631.1; Type=Erroneous initiation;
Note=Translation N-terminally extended; Sequence=CAC00730.1; Type=Erroneous initiation; Note=Translation
N-terminally extended;
Secondary accessions: Q86SU8 Q96L76 Q9BXK6 Q9BXK7 Q9BXK8 Q9BXK9 Q9BXL0 Q9BXL1 Q9BXL2 Q9BXL3
Q9BXL4
Alternative splicing: 8 isoforms:  P45844-1   P45844-2   P45844-3   P45844-4   P45844-5   P45844-6   P45844-7   P45844-8   

Explore the universe of human proteins at neXtProt for ABCG1: NX_P45844

Explore proteomics data for ABCG1 at MOPED

Post-translational modifications: 

  • Palmitoylation at Cys-315 seems important for trafficking from the endoplasmic reticulum1
  • Ubiquitination2 at Lys55, Lys107, Lys124, Lys140, Lys279, Lys300
  • Modification sites at PhosphoSitePlus

  • See ABCG1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_004906.3  NP_058198.2  NP_997057.1  NP_997510.1  NP_997511.1  NP_997512.1  

    ENSEMBL proteins: 
     ENSP00000381475   ENSP00000291524   ENSP00000414541   ENSP00000381467   ENSP00000354995  
     ENSP00000339744   ENSP00000381464   ENSP00000343820  
    Reactome Protein details: P45844

    ABCG1 Human Recombinant Protein Products:

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    Novus Biologicals ABCG1 Proteins
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for ABCG1

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    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. CLIAs for ABCG1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ABCG: ATP binding cassette transporters / subfamily G

    IUPHAR Guide to PHARMACOLOGY protein family classification: ABCG1
    ABCG subfamily

    Selected InterPro protein domains (see all 6):
     IPR003439 ABC_transporter-like
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase
     IPR005284 Pigment_permease
     IPR013525 ABC_2_trans

    Graphical View of Domain Structure for InterPro Entry P45844

    ProtoNet protein and cluster: P45844

    UniProtKB/Swiss-Prot: ABCG1_HUMAN, P45844
    Similarity: Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204)
    subfamily
    Similarity: Contains 1 ABC transmembrane type-2 domain
    Similarity: Contains 1 ABC transporter domain


    ABCG1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ABCG1_HUMAN, P45844
    Function: Transporter involved in macrophage lipid homeostasis. Is an active component of the macrophage lipid
    export complex. Could also be involved in intracellular lipid transport processes. The role in cellular lipid
    homeostasis may not be limited to macrophages
    Induction: Strongly induced in monocyte-derived macrophages during cholesterol influx. Conversely, mRNA and
    protein expression are suppressed by lipid efflux. Induction is mediated by the liver X receptor/retinoid X
    receptor (LXR/RXR) pathway. Not induced by bacterial lipopolysaccharides (LPS). Repressed by ZNF202

         Genatlas biochemistry entry for ABCG1:
    ATP-binding cassette superfamily,subfamily G (WHITE),member 1,homolog of Drosophila White (W),expresed in
    cholesterol-laden macrophages,localized at the cell surface or in intracellular compartments,regulated by
    cholesterol uptake or HDL-mediated lipid release,potentially involved in macrophage lipid homeostasis

         Gene Ontology (GO): Selected molecular function terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003924GTPase activity ----
    GO:0005515protein binding IPI16870176
    GO:0005524ATP binding IDA16702602
    GO:0005525GTP binding ----
         
    ABCG1 for ontologies           About GeneDecksing


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Abcg1):
     adipose tissue  behavior/neurological  cellular  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  liver/biliary system  no phenotypic analysis  renal/urinary system 
     respiratory system  skeleton 

    ABCG1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Abcg1tm1Asch for ABCG1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ABCG1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ABCG1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABCG1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ABCG1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat ABCG1 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate ABCG1:
    hsa-miR-320a hsa-miR-182* hsa-miR-320b hsa-miR-9* hsa-miR-320d hsa-miR-384
    SwitchGear 3'UTR luciferase reporter plasmidABCG1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ABCG1
    Predesigned siRNA for gene silencing in human, mouse, rat ABCG1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ABCG1

    Clone
    Products:
         
    OriGene clones in human, mouse for ABCG1 (see all 33)
    OriGene ORF clones in mouse, rat for ABCG1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): ABCG1 (NM_004915)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABCG1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCG1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ABCG1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCG1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ABCG1_HUMAN, P45844: Mitochondrion. Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus
    membrane; Multi-pass membrane protein. Note=Predominantly localized in the intracellular compartments mainly
    associated with the endoplasmic reticulum (ER) and Golgi membranes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    mitochondrion5
    plasma membrane4
    endosome3
    extracellular2
    nucleus2
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005739mitochondrion IDA--
    GO:0005768endosome ISS--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005794Golgi apparatus IDA16780588

    ABCG1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ABCG1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1ABC-family proteins mediated transport
    ABC-family proteins mediated transport0.69
    ABCA transporters in lipid homeostasis0.00
    ABC transporters0.69
    2Lipoprotein metabolism
    Lipoprotein metabolism0.59
    HDL-mediated lipid transport0.00
    Lipid digestion, mobilization, and transport0.59
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    4Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    5Nuclear receptors in lipid metabolism and toxicity
    Nuclear receptors in lipid metabolism and toxicity

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for ABCG1
        Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)

    1 BioSystems Pathway for ABCG1
        Nuclear receptors in lipid metabolism and toxicity

    2 Reactome Pathways for ABCG1
        ABCA transporters in lipid homeostasis
    HDL-mediated lipid transport


    1 Kegg Pathway  (Kegg details for ABCG1):
        ABC transporters


    ABCG1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ABCG1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Fatty Liver in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ABCG1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ABCG1 (P458441 ENSP000003549954) via UniProtKB, MINT, STRING, and/or I2D (see all 83)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABCG4Q9H1721, ENSP000003041114EBI-8584087,EBI-8584118 STRING: ENSP00000304111
    UBCENSP000003448184STRING: ENSP00000344818
    CBX8ENSP000002693854STRING: ENSP00000269385
    CSTF3ENSP000003157914STRING: ENSP00000315791
    ASH1LENSP000003762044STRING: ENSP00000376204
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 28):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-templated ISS--
    GO:0006810transport ----
    GO:0008203cholesterol metabolic process IDA15994327
    GO:0009720detection of hormone stimulus NAS11500512
    GO:0010033response to organic substance IDA11500512

    ABCG1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ABCG1

    1 DrugBank Compound for ABCG1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine triphosphate5'-ATP (see all 8)56-65-5target--17158291 17117613 16876126 16902423 16842213

    Selected Novoseek inferred chemical compound relationships for ABCG1 gene (see all 18)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    24(s),25-epoxycholesterol 85.6 1 17186944 (1)
    cholesterol 80.2 242 15994327 (8), 15210959 (6), 16702602 (5), 10639163 (5) (see all 99)
    22r-hydroxycholesterol 78.8 3 10799558 (1), 17478758 (1), 15777536 (1)
    27-hydroxycholesterol 77.2 4 17088262 (3)
    22-hydroxycholesterol 74.6 1 16498511 (1)
    sterol 74.5 16 19895785 (2), 10799558 (1), 14993242 (1), 16498511 (1) (see all 12)
    essentiale 57.7 2 16702602 (1), 10639163 (1)
    lipid 56.7 29 15994327 (3), 16798073 (2), 16680026 (2), 19146988 (2) (see all 18)
    atp 47.3 30 11279031 (2), 15994327 (2), 16702602 (1), 17408620 (1) (see all 21)
    3-hydroxy-3-methylglutaryl-coa 41.2 2 16647568 (1)



    ABCG1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ABCG1 gene (7 alternative transcripts): 
    NM_004915.3  NM_016818.2  NM_207174.1  NM_207627.1  NM_207628.1  NM_207629.1  NM_207630.1  

    Unigene Cluster for ABCG1:

    ATP-binding cassette, sub-family G (WHITE), member 1
    Hs.124649  [show with all ESTs]
    Unigene Representative Sequence: AY048757
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000398457(uc002zam.3 uc002zan.3) ENST00000462050 ENST00000347800(uc002zao.3)
    ENST00000450121 ENST00000398449(uc002zap.3) ENST00000361802(uc002zaq.3)
    ENST00000343687(uc002zar.3 uc011aev.2) ENST00000398437 ENST00000472587
    ENST00000467818 ENST00000496783(uc010gpb.2) ENST00000340588
    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate ABCG1:
    hsa-miR-320a hsa-miR-182* hsa-miR-320b hsa-miR-9* hsa-miR-320d hsa-miR-384
    SwitchGear 3'UTR luciferase reporter plasmidABCG1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 6): ABCG1 (NM_004915)
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat ABCG1
      QuantiFast Probe-based Assays in human, mouse, rat ABCG1

    Additional mRNA sequence: 

    AF038175.1 AF323660.1 AF323661.1 AF323662.1 AF323663.1 AF323664.1 AK292152.1 AK298491.1 
    AL355688.1 AL355711.1 AY048757.1 BC029158.1 X91249.1 Z38010.1 

    15 DOTS entries:

    DT.97841101  DT.422183  DT.100025709  DT.99993759  DT.443043  DT.102825859  DT.97841102  DT.97841100 
    DT.95270333  DT.100025708  DT.92422733  DT.95199656  DT.121133864  DT.315220  DT.40107841 

    Selected AceView cDNA sequences (see all 117):

    AA297995 BQ637714 CD674019 AA297109 BE742274 BC029158 NM_207174 NM_207629 
    NM_207628 AI678557 AI810215 AU185697 AI479094 BF435640 NM_207630 AW083232 
    AU121706 NM_016818 BE466692 AW262124 NM_207627 AA748203 NM_004915 CD672447 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ABCG1 (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14
    SP1:                                                                    -                                                               
    SP2:                                                                                                                                    
    SP3:                                                                                                                                    
    SP4:                                                                                                                                    
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for ABCG1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ABCG1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGACATTTT
    ABCG1 Expression
    About this image


    ABCG1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Neural Tube (Nervous System)
             Floor plate-like cells
    ABCG1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ABCG1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.124649

    UniProtKB/Swiss-Prot: ABCG1_HUMAN, P45844
    Tissue specificity: Expressed in several tissues. Expressed in macrophages; expression is increased in macrophages
    from patients with Tangier disease

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ABCG1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abcg11 , 5 ATP-binding cassette, sub-family G (WHITE), member more1, 5 87.69(n)1
    96.85(a)1
      17 (15.80 cM)5
    113071  NM_009593.21  NP_033723.11 
     310576985 
    chicken
    (Gallus gallus)
    Aves ABCG11 ATP-binding cassette, sub-family G (WHITE), member more 79.13(n)
    92.64(a)
      418533  XM_003640501.2  XP_003640549.1 
    lizard
    (Anolis carolinensis)
    Reptilia ABCG16
    ATP-binding cassette, sub-family G (WHITE), member...
    91(a)
    1 ↔ 1
    3(137828481-137880426)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004968111 ATP-binding cassette sub-family G member 1-like 77.43(n)
    87.93(a)
      100496811  XM_002942136.2  XP_002942182.2 
    zebrafish
    (Danio rerio)
    Actinopterygii abcg11 ATP-binding cassette, sub-family G (WHITE), member more 75.98(n)
    86.19(a)
      556979  NM_001110454.1  NP_001103924.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Atet3 ATP-binding cassette (ABC) transporter 63(a)
    (best of 10)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea F02E11.13
    wht-51
    ABC transpoter3
    wht-51
    30(a)
    (best of 7)3
    43.62(n)1
    33.83(a)1
      II(3279207-3281668)3
    1781821  NM_069951.41  NP_502352.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ADP16
    Putative ATP-dependent permease of the ABC transpo...
    16(a)
    1 → many
    III(133724-136873) YCR011C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons WBC271 WBC27 43.69(n)
    31.96(a)
      820512  NM_112162.2  NP_187928.2 
    rice
    (Oryza sativa)
    Liliopsida Os06g06077001 Os06g0607700 48.49(n)
    32.79(a)
      4341486  NM_001064568.1  NP_001058033.1 


    ENSEMBL Gene Tree for ABCG1 (if available)
    TreeFam Gene Tree for ABCG1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ABCG1 gene
    ABCG82  ABCG52  ABCG42  ABCG22  
    6 SIMAP similar genes for ABCG1 using alignment to 4 protein entries:     ABCG1_HUMAN (see all proteins):
    white    ABCG4    DKFZp434P1420    ABCB4    ABCG2    ABCG5

    ABCG1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ABCG1 (see all 2689)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs755233581,2
    C,F--43617857(+) ATTAGC/ATTTCA 1 -- us2k12Minor allele frequency- A:0.50CSA 4
    rs1392137771,2
    C--43617936(+) CAGCCA/GGGCGC 2 -- us2k10--------
    rs614623711,2
    --43617979(+) CAGGCC/TGAGGC 2 -- us2k10--------
    rs1436897431,2
    --43617980(+) AGGCCA/GAGGCA 2 -- us2k10--------
    rs1906218621,2
    --43618051(+) TCTACC/TAAAAA 2 -- us2k10--------
    rs1131164971,2
    C,F--43618066(+) AAAATC/TAGCTG 2 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs93256321,2
    C,A,H--43618196(+) gtgacA/Ggagtg 2 -- us2k12Minor allele frequency- G:0.25NA 4
    rs1831471141,2
    --43618243(+) ACAAAA/GCCTAA 2 -- us2k10--------
    rs1878208921,2
    C--43618260(+) AACTAA/CAGACT 2 -- us2k10--------
    rs1505999431,2
    --43618291(+) CATCTA/GTGTGA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for ABCG1 (43619799 - 43717354 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ABCG1 (see all 24):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2723541CNV Deletion23290073
    esv1717658CNV Deletion17803354
    esv2723543CNV Deletion23290073
    esv2723544CNV Deletion23290073
    esv2723542CNV Deletion23290073
    esv2159041CNV Deletion18987734
    esv2723540CNV Deletion23290073
    esv2309946CNV Deletion18987734
    esv2511733CNV Deletion19546169
    esv2723538CNV Deletion23290073

    Human Gene Mutation Database (HGMD): ABCG1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ABCG1
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCG1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603076    OMIM disorders: --

    Selected diseases for ABCG1 (see all 31):    
    About MalaCards
    blue color blindness    tangier disease    sitosterolemia    color blindness
    autosomal recessive nonsyndromic deafness    nonsyndromic deafness    pulmonary alveolar proteinosis    blindness
    ischemic heart disease    neurologic diseases    insulinoma    hypercholesterolemia
    atherosclerosis    coronary artery disease    diabetes mellitus    myocardial infarction
    obesity    endotheliitis    hypertension    neuroblastoma

    1 disease from the University of Copenhagen DISEASES database for ABCG1:
    Atherosclerosis

    ABCG1 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for ABCG1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tangier disease 65.5 3 11350058 (2), 11427487 (1)
    atherosclerosis 60.6 12 18599800 (3), 17459600 (2), 16680026 (1), 18460328 (1) (see all 8)
    atherosclerotic plaque 44.6 3 11350058 (2), 20057170 (1)
    cardiovascular diseases 29.8 2 17408620 (1), 19803427 (1)
    inflammation 14.1 1 18460328 (1)
    tumors 2.08 2 16941710 (1), 12874078 (1)

    Genetic Association Database (GAD): ABCG1
    Human Genome Epidemiology (HuGE) Navigator: ABCG1 (15 documents)

    Export disorders for ABCG1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ABCG1 gene, integrated from 10 sources (see all 231):
    (articles sorted by number of sources associating them with ABCG1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3. (PubMed id 8659545)1, 2, 3 Chen H.M.... Antonarakis S.E. (Am. J. Hum. Genet. 1996)
    2. ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport. (PubMed id 10639163)1, 2, 9 Klucken J.... Schmitz G. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    3. Expression and functional characterization of ABCG1 splice variant ABCG1(666). (PubMed id 16870176)1, 3, 9 Engel T....Seedorf U. (FEBS Lett. 2006)
    4. Expression of the ATP-binding cassette transporter gene ABCG1 (ABC8) in Tangier disease. (PubMed id 11350058)1, 2, 9 Lorkowski S.... Cullen P. (Biochem. Biophys. Res. Commun. 2001)
    5. The zinc finger protein 202 (ZNF202) is a transcriptional repressor of ATP binding cassette transporter A1 (ABCA1) and ABCG1 gene expression and a modulator of cellular lipid efflux. (PubMed id 11279031)1, 2, 9 Porsch-Oezcueruemez M.... Schmitz G. (J. Biol. Chem. 2001)
    6. Human white/murine ABC8 mRNA levels are highly induced in lipid- loaded macrophages. A transcriptional role for specific oxysterols. (PubMed id 10799558)1, 2, 9 Venkateswaran A.... Edwards P.A. (J. Biol. Chem. 2000)
    7. ABCG1 gene variants in suicidal behavior and aggression-related traits. (PubMed id 17187964)1, 4, 9 Gietl A....Rujescu D. (Eur Neuropsychopharmacol 2007)
    8. Genotypic Effect of ABCG1 gene promoter -257T&gt;G polymorphism on coronary artery disease severity in Japanese men. (PubMed id 19556716)1, 4, 9 Furuyama S....Saku K. (J. Atheroscler. Thromb. 2009)
    9. Role of ABCG1 and other ABCG family members in lipid metabolism. (PubMed id 11590207)1, 2, 9 Schmitz G.... Heimerl S. (J. Lipid Res. 2001)
    10. Genomic sequence and structure of the human ABCG1 (ABC8) gene. (PubMed id 11162488)1, 2, 9 Lorkowski S.... Cullen P. (Biochem. Biophys. Res. Commun. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9619 HGNC: 73 AceView: ABCG1 Ensembl:ENSG00000160179 euGenes: HUgn9619
    ECgene: ABCG1 Kegg: 9619 H-InvDB: ABCG1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ABCG1 Pharmacogenomics, SNPs, Pathways
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=P45844

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ABCG1 gene:
    Search GeneIP for patents involving ABCG1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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