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    ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7 [ Homo sapiens ]

    Gene ID: 10347, updated on 11-May-2012
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    Summary

    Official Symbol
    ABCA7provided by HGNC
    Official Full Name
    ATP-binding cassette, sub-family A (ABC1), member 7provided by HGNC
    Primary source
    HGNC:37
    See related
    Ensembl:ENSG00000064687; HPRD:09255; MIM:605414; Vega:OTTHUMG00000167547
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ABCX; ABCA-SSN; FLJ40025
    Summary
    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 ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    19p13.3
    Sequence :
    Chromosome: 19; NC_000019.9 (1040102..1065571)
    See ABCA7 in Epigenomics, MapViewer

    Chromosome 19 - NC_000019.9Genomic Context describing neighboring genes Neighboring gene glutamate receptor, ionotropic, N-methyl-D-aspartate 3B Neighboring gene chromosome 19 open reading frame 6 Neighboring gene calponin 2 Neighboring gene histocompatibility (minor) HA-1 Neighboring gene polymerase (RNA) II (DNA directed) polypeptide E, 25kDa Neighboring gene glutathione peroxidase 4

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    2. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Naj AC, et al. Nat Genet, 2011 May. PMID 21460841.
    3. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Hollingworth P, et al. Nat Genet, 2011 May. PMID 21460840.
    4. Roles of ATP-binding cassette transporter A7 in cholesterol homeostasis and host defense system. Tanaka N, et al. J Atheroscler Thromb, 2011. PMID 21173549.
    5. Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease. Peloso GM, et al. J Lipid Res, 2010 Dec. PMID 20855565.

    See all (29) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. [REVIEW]ABCA7 seems to be one of the key molecules linking sterol homeostasis and the host defense system
      Title: Roles of ATP-binding cassette transporter A7 in cholesterol homeostasis and host defense system.
    2. ABCA7 and the MS4A6A/MS4A4E gene cluster are new Alzheimer's disease susceptibility loci.
      Title: Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.
    3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    4. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease.
    6. ABCA7 has the ability to bind apolipoproteins and promote efflux of cellular phospholipids without cholesterol, and has a possible role of ABCA7 in cellular phospholipid metabolism in peripheral tissues
      Title: ATP-binding cassette transporter A7 (ABCA7) binds apolipoprotein A-I and mediates cellular phospholipid but not cholesterol efflux.
    7. the ABCA7-mediated reaction generated mostly small cholesterol-poor particles; ABCA7 produces this HDL subfraction only as a very minor component.
      Title: Heterogeneity of high density lipoprotein generated by ABCA1 and ABCA7.
    8. Alternative splicing could be involved in the post-transcriptional regulation of the expression and function of human ABCA7
      Title: Posttranscriptional regulation of human ABCA7 and its function for the apoA-I-dependent lipid release.
    9. Overexpression of ABCA7 in HeLa cells resulted in increased expression of intracellular and cell surface ceramide and elevated intracellular phosphatidylserine levels.
      Title: Adenosine triphosphate binding cassette (ABC) transporters are expressed and regulated during terminal keratinocyte differentiation: a potential role for ABCA7 in epidermal lipid reorganization.
    10. These studies reveal a major role of ABCA7 and not -A1 in the clearance of apoptotic cells and therefore suggest that ABCA7 is an authentic orthologue of CED-7.
      Title: ATP-binding cassette transporter A7 enhances phagocytosis of apoptotic cells and associated ERK signaling in macrophages.
    Submit: New GeneRIF Correction See all (11)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.

    Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:115629 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • ABC transporters, organism-specific biosystem (from KEGG)
      ABC transporters, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • ABC transporters, conserved biosystem (from KEGG)
      ABC transporters, conserved biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
      ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
    • ABCA transporters in lipid homeostasis, organism-specific biosystem (from REACTOME)
      ABCA transporters in lipid homeostasis, organism-specific biosystemA defined subset of the ABC transporter superfamily, the ABCA transporters, are highly expressed in monocytes and macrophages and are regulated by cholesterol flux which may indicate their role in in...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    ATPase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    phospholipid transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    transporter activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    phagocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    phospholipid efflux IEA
    Inferred from Electronic Annotation
    more info
    		  
    transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    ATP-binding cassette (ABC) transporter complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    intracellular IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    ATP-binding cassette sub-family A member 7
    Names
    ATP-binding cassette sub-family A member 7
    autoantigen SS-N
    macrophage ABC transporter
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_019112.3 → NP_061985.2  ATP-binding cassette sub-family A member 7

      Status: REVIEWED

      Source sequence(s)
      AF250238, AF328787, AK097344, BU675136, CD629701, DC405492
      Consensus CDS
      CCDS12055.1
      UniProtKB/TrEMBL
      B3KUJ3
      UniProtKB/Swiss-Prot
      Q8IZY2
      Related
      ENSP00000263094, OTTHUMP00000236146, ENST00000263094, OTTHUMT00000394993
      Conserved Domains (2) summary
      cd03263
      Location:1793 – 2013
      Blast Score: 800
      ABC_subfamily_A; The ABCA subfamily mediates the transport of a variety of lipid compounds. Mutations of members of ABCA subfamily are associated with human genetic diseases, such as, familial high-density lipoprotein (HDL) deficiency, neonatal surfactant deficiency, ...
      TIGR01257
      Location:204 – 2109
      Blast Score: 4270
      rim_protein; retinal-specific rim ABC transporter

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000019.9 Reference GRCh37.p5 Primary Assembly

      Range
      1040102..1065571
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000151.1 Alternate HuRef

      Range
      812691..838952
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_033308.1: Suppressed sequence

      Description
      NM_033308.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the N-terminus of the protein.
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC011558.6 (14310..38636) None
    genomic AF311057.1 AAN04657.1
    genomic AF311058.1 AAN04657.1
    genomic AF311059.1 AAN04657.1
    genomic AF311060.1 AAN04657.1
    genomic AF311061.1 AAN04657.1
    genomic AF311062.1 AAN04657.1
    genomic AF311063.1 AAN04657.1
    genomic AF311064.1 AAN04657.1
    genomic AF311065.1 AAN04657.1
    genomic AF311066.1 AAN04657.1
    genomic AF311067.1 AAN04657.1
    genomic AF311068.1 AAN04657.1
    genomic AF311069.1 AAN04657.1
    genomic AF311070.1 AAN04657.1
    genomic AF311071.1 AAN04657.1
    genomic AF311072.1 AAN04657.1
    genomic AF311073.1 AAN04657.1
    genomic AF311074.1 AAN04657.1
    genomic AF311075.1 AAN04657.1
    genomic AF311076.1 AAN04657.1
    genomic AF311077.1 AAN04657.1
    genomic AF311078.1 AAN04657.1
    genomic AF311079.1 AAN04657.1
    genomic AF311080.1 AAN04657.1
    genomic AF311081.1 AAN04657.1
    genomic AF311082.1 AAN04657.1
    genomic AF311083.1 AAN04657.1
    genomic AF311084.1 AAN04657.1
    genomic AF311085.1 AAN04657.1
    genomic AF311086.1 AAN04657.1
    genomic AF311087.1 AAN04657.1
    genomic AF311088.1 AAN04657.1
    genomic AF311089.1 AAN04657.1
    genomic AF311090.1 AAN04657.1
    genomic AF311091.1 AAN04657.1
    genomic AF311092.1 AAN04657.1
    genomic AF311093.1 AAN04657.1
    genomic AF311094.1 AAN04657.1
    genomic AF311095.1 AAN04657.1
    genomic AF311096.1 AAN04657.1
    genomic AF311097.1 AAN04657.1
    genomic AF311098.1 AAN04657.1
    genomic AF311099.1 AAN04657.1
    genomic AF311100.1 AAN04657.1
    genomic AF311101.1 AAN04657.1
    genomic AF311102.1 None
    genomic CH471139.2 EAW69556.1
      EAW69557.1
      EAW69558.1
      EAW69559.1
      EAW69560.1
      EAW69561.1
      EAW69562.1
      EAW69563.1
      EAW69564.1
    mRNA AB055390.1 BAB62294.1
    mRNA AF140342.1 AAF06727.1
    mRNA AF250238.1 AAF85794.1
    mRNA AF328787.1 AAK00959.1
    mRNA AK097344.1 BAG53455.1
    mRNA AK301108.1 BAG62707.1
    mRNA AK310127.1 None
    mRNA AK310909.1 None
    mRNA AL137481.1 CAB70762.1
    mRNA BU675136.1 None
    mRNA CD629701.1 None
    mRNA DC405492.1 None
    other-genetic BC172426.1 AAI72426.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IZY2.3 GenPept UniProtKB/Swiss-Prot:Q8IZY2
    Q9NT80 GenPept UniProtKB/TrEMBL:Q9NT80
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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