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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ABCG1 Gene

protein-coding   GIFtS: 64
GCID: GC21P043619

ATP-binding cassette, sub-family G (WHITE), member 1
 Explore 31 diseases affiliated with
ABCG1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ABCG1    

Aliases
for ABCG1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section
Aliases
ATP-Binding Cassette, Sub-Family G (WHITE), Member 11 2     ATP-Binding Cassette Sub-Family G Member 12
ABC81 2 3 5     ATP-Binding Cassette Transporter Member 1 Of Subfamily G2
White Protein Homolog (ATP-Binding Cassette Transporter 8)2 11     Homolog Of Drosophila White2
ATP-Binding Cassette Transporter 82 3     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


Summaries
for ABCG1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ABCG1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.1  NT_011515.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ABCG1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
 43,720,714 bp from pter 29,264,680 bp from centromere
Size:
 100,916 bases 77,976 bases
Orientation:
 plus strand plus strand

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


Proteins
for ABCG1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: 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
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P45844

    • ABCG1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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   ENSP00000420100   ENSP00000417667   ENSP00000420245  
     ENSP00000343820  
    Reactome Protein details: P45844
    Human Recombinant Protein Products: 
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    Novus Biologicals ABCG1 Proteins
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    Uscn Proteins for ABCG1

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005622intracellular ----
    GO:0005739mitochondrion IDA--
    GO:0005768endosome ISS--
    GO:0005789endoplasmic reticulum membrane IEA--


    ABCG1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ABCG1

    Protein Domains /
    Families
    for ABCG1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ABCG1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR020064 ABC_transptr_G1-like
     IPR003439 ABC_transporter-like
     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


    Function
    for ABCG1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    hsa-miR-320a hsa-miR-182* hsa-miR-320b hsa-miR-9* hsa-miR-320d hsa-miR-384
    SwitchGear 3'UTR luciferase reporter plasmid: ABCG1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABCG1 (see all 7)
    OriGene shRNA RFP: ABCG1
    OriGene siRNA: ABCG1
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    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ABCG1

    Clone
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    Cell Line
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    In Situ Assay
    Products:       
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    Gene Ontology (GO): 5/13 molecular function terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IDA16702602
    GO:0005543phospholipid binding IC16702602
    GO:0005548phospholipid transporter activity IDA16702602
    GO:0015485cholesterol binding IC15994327
    GO:0016887ATPase activity ----


    ABCG1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Abcg1tm1Asch for ABCG1
         12 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Abcg1):
     adipose tissue  behavior/neurological  cellular  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  liver/biliary system  no phenotypic analysis  renal/urinary system 
     respiratory system  skeleton 

    ABCG1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ABCG1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Lipoprotein metabolism
    		Lipoprotein metabolism1.00
    		Lipid digestion, mobilization, and transport0.56
    		HDL-mediated lipid transport0.57
    2ABC-family proteins mediated transport
    		ABC-family proteins mediated transport1.00
    		ABCA transporters in lipid homeostasis0.47
    		ABC transporters0.70
    3Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    4Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)
    		Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)1.00
    5Nuclear receptors in lipid metabolism and toxicity
    		Nuclear receptors in lipid metabolism and toxicity1.00

    Pathway sources
    See GeneCards unified pathways
    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

    5/8        Reactome Pathways for ABCG1 (see all 8)
        ABC-family proteins mediated transport
    Transmembrane transport of small molecules
    ABCA transporters in lipid homeostasis
    Lipid digestion, mobilization, and transport
    Metabolism


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


    ABCG1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ABCG1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for ABCG1 (ENSP000003549954) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    ABCG4ENSP000003041114STRING: ENSP00000304111
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): 5/29 biological process terms (GO ID links to tree view) (see all 29):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent ISS--
    GO:0006629lipid metabolic process TAS--
    GO:0006810transport ----
    GO:0008203cholesterol metabolic process IDA15994327
    GO:0009720detection of hormone stimulus NAS11500512


    ABCG1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ABCG1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ABCG1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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

    10/18 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about ABCG1 

    Transcripts
    for ABCG1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    15 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 ENST00000489035 ENST00000469119 ENST00000482161 ENST00000496783(uc010gpb.2)
    ENST00000340588

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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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.99993759  DT.100025709  DT.443043  DT.102825859  DT.97841102  DT.97841100 
    DT.95270333  DT.100025708  DT.92422733  DT.95199656  DT.121133864  DT.315220  DT.40107841 

    24/117 AceView cDNA sequences (see all 117):

    AA297906 AW262124 AI300841 BE466692 BF527440 NM_004915 AU119946 BI258309 
    F08291 AA748203 CD672447 NM_016818 F04520 NM_207627 Z39977 AW083232 
    NM_207628 AI810215 CD674019 BC029158 AI678557 AU121706 AA297995 NM_207630 

    GeneLoc Exon Structure

    5/6 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

    Expression
    for ABCG1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ABCG1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAGACATTTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ABCG1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Neural TubeNeural TubeSpinal Neural Tube CellsNeural Ectoderm
    Skeletal MuscleHyoid Arch MusclesMuscle Progenitor CellsSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMuscle Progenitor CellsSkeletal Muscle
    Spinal CordPresumptive Spinal CordSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor Z1 (Embryonic Progenitor Cell)

    See ABCG1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABCG1

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including ABCG1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Fatty Liver in human mouse rat

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    Orthologs
    for ABCG1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ABCG1 gene from 7/28 species (see all 28)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ABCG11 ATP-binding cassette, sub-family G (WHITE), member more 78.75(n)
    91.57(a)    		   418533  XM_003640501.1  XP_003640549.1 
    lizard
    (Anolis carolinensis)    		 Reptilia ABCG16
    		 --
    		 90(a)
    		 1 ↔ 1
    		 3(137828481-137880261)
    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 Atet1 , 3 ATP-binding cassette (ABC) transporter3
    ABC transporter expressed in trachea1    		 63(a)
    (best of 10)3
    61.34(n)1
    56.06(a)1    		   336361  NM_001103608.21  NP_001097078.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea F02E11.13
    wht-51    		 ABC transpoter3
    Protein WHT-51    		 30(a)
    (best of 7)3
    43.05(n)1
    33.11(a)1    		   II(3279207-3281668)3
    1781821  NM_069951.31  NP_502352.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons WBC271 ABC-2 type transporter family protein 43.44(n)
    32.09(a)    		   820512  NM_112162.2  NP_187928.2 
    rice
    (Oryza sativa)    		 Liliopsida Os06g06077001 hypothetical protein 47.92(n)
    32.38(a)    		   4341486  NM_001064568.1  NP_001058033.1 


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

    Paralogs
    for ABCG1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ABCG1 gene
    ABCA12  ABCA102  ABCA132  ABCA32  ABCA82  ABCG42  ABCA122  ABCG82  
    ABCA42  ABCA72  ABCG52  ABCA22  ABCA92  ABCA62  ABCA52  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



    Genomic Variants
    for ABCG1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2169 NCBI SNPs in ABCG1 are shown (see all 2169)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 21 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs755233581,2
    		F,--43617857(+) ATTAGC/ATTTCA 1 -- us2k12Minor allele frequency- A:0.50CSA 4
    rs1392137771,2
    		--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
    		--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
    		--43618260(+) AACTAA/CAGACT 2 -- us2k10--------
    rs1505999431,2
    		--43618291(+) CATCTA/GTGTGA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for ABCG1 (43619799 - 43720714 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for ABCG1
         1 CNV: 103103
         3 Indels: 46178 26973 46179
    Human Gene Mutation Database (HGMD): ABCG1

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    Disorders / Diseases
    for ABCG1 gene

    (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.)
    About This Section
    ABCG1 for disorders           About GeneDecksing

    OMIM gene information: 603076    OMIM disorders: --

    20/31 diseases for ABCG1 (see all 31):    About MalaCards
    autosomal recessive nonsyndromic deafness    blue color blindness    nonsyndromic deafness    pulmonary alveolar proteinosis
    cholesterol    type 2 diabetes mellitus    cetp deficiency    bipolar affective disorder
    tangier disease    color blindness    sitosterolemia    diabetes mellitus
    squamous cell carcinoma    neurologic diseases    hyperlipidemia    hypercholesterolemia
    atherosclerosis    alzheimer's disease    ovarian cancer    blindness

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

    6 Novoseek 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

    Publications
    for ABCG1 gene

    (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)
    About This Section

    PubMed articles for ABCG1 gene, integrated from 9 sources (see all 220):
    (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. (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. (2000)
    3. Expression and functional characterization of ABCG1 splice variant ABCG1(666). (PubMed id 16870176)1, 3, 9 Engel T....Seedorf U. (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. (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. (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. (2000)
    7. Role of ABCG1 and other ABCG family members in lipid metabolism. (PubMed id 11590207)1, 2, 9 Schmitz G.... Heimerl S. (2001)
    8. Genomic sequence and structure of the human ABCG1 (ABC8) gene. (PubMed id 11162488)1, 2, 9 Lorkowski S.... Cullen P. (2001)
    9. Characterization of the human ABCG1 gene: liver X receptor activates an internal promoter that produces a novel transcript encoding an alternative form of the protein. (PubMed id 11500512)1, 2, 9 Kennedy M.A.... Edwards P.A. (2001)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    External Searches for ABCG1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ABCG1 gene

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

    Other Databases showing ABCG1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ABCG1 gene

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

    Intellectual Property
    for ABCG1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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