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    ABCA7 ATP binding cassette subfamily A member 7 [ Homo sapiens (human) ]

    Gene ID: 10347, updated on 5-Aug-2018
    Official Symbol
    ABCA7provided by HGNC
    Official Full Name
    ATP binding cassette subfamily A member 7provided by HGNC
    Primary source
    HGNC:HGNC:37
    See related
    Ensembl:ENSG00000064687 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
    AD9; ABCX; ABCA-SSN
    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]
    Expression
    Broad expression in bone marrow (RPKM 11.7), spleen (RPKM 9.6) and 22 other tissues See more
    Orthologs
    See ABCA7 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    47
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (1040103..1065572)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1040102..1065571)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 2 Neighboring gene calponin 2 Neighboring gene Rho GTPase activating protein 45 Neighboring gene RNA polymerase II subunit E Neighboring gene glutathione peroxidase 4

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Alzheimer disease, type 9
    MedGen: C1837149 OMIM: 608907 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.
    NHGRI GWA Catalog
    Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
    NHGRI GWA Catalog
    Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
    NHGRI GWA Catalog
    Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans.
    NHGRI GWA Catalog
    • 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 transporters in lipid homeostasis, organism-specific biosystem (from REACTOME)
      ABC 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...
    • 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...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ40025

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATPase activity, coupled to transmembrane movement of substances IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    apolipoprotein A-I receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylcholine-translocating ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylserine-translocating ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    apolipoprotein A-I-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cholesterol efflux IDA
    Inferred from Direct Assay
    more info
    PubMed 
    high-density lipoprotein particle assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lipid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    memory ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of amyloid precursor protein biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of amyloid-beta formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    peptide cross-linking ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    phagocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    phospholipid efflux IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phospholipid translocation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of ERK1 and ERK2 cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of amyloid-beta clearance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cholesterol efflux ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of engulfment of apoptotic cell ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of phagocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of phospholipid efflux ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein localization to nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    ATP-binding cassette (ABC) transporter complex TAS
    Traceable Author Statement
    more info
    PubMed 
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cell junction IDA
    Inferred from Direct Assay
    more info
     
    cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phagocytic cup ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    ruffle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    ATP-binding cassette sub-family A member 7
    Names
    ATP-binding cassette, sub-family A (ABC1), member 7
    autoantigen SS-N
    macrophage ABC transporter

    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.

    Genomic

    1. NG_046909.1 RefSeqGene

      Range
      5001..30470
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_061985.2

      Status: REVIEWED

      Source sequence(s)
      AF250238, AF328787, AK097344, BU675136, CD629701, DC405492
      Consensus CDS
      CCDS12055.1
      UniProtKB/Swiss-Prot
      Q8IZY2
      UniProtKB/TrEMBL
      B3KUJ3
      Related
      ENSP00000263094.6, ENST00000263094.10
      Conserved Domains (2) summary
      TIGR01257
      Location:12109
      rim_protein; retinal-specific rim ABC transporter
      cd03263
      Location:17932013
      ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

      Range
      1040103..1065572
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451316.1XP_024307084.1  ATP-binding cassette sub-family A member 7 isoform X1

      Conserved Domains (1) summary
      cl28181
      Location:12114
      AAA; ATPases associated with a variety of cellular activities
    2. XM_024451315.1XP_024307083.1  ATP-binding cassette sub-family A member 7 isoform X1

      Conserved Domains (1) summary
      cl28181
      Location:12114
      AAA; ATPases associated with a variety of cellular activities
    3. XM_024451318.1XP_024307086.1  ATP-binding cassette sub-family A member 7 isoform X3

      Conserved Domains (1) summary
      cl28181
      Location:12096
      AAA; ATPases associated with a variety of cellular activities
    4. XM_006722616.1XP_006722679.1  ATP-binding cassette sub-family A member 7 isoform X4

      Conserved Domains (2) summary
      TIGR01257
      Location:12091
      rim_protein; retinal-specific rim ABC transporter
      cd03263
      Location:17751995
      ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    5. XM_024451319.1XP_024307087.1  ATP-binding cassette sub-family A member 7 isoform X5

      Conserved Domains (1) summary
      cl28181
      Location:12071
      AAA; ATPases associated with a variety of cellular activities
    6. XM_024451321.1XP_024307089.1  ATP-binding cassette sub-family A member 7 isoform X7

      Conserved Domains (1) summary
      cl28181
      Location:11965
      AAA; ATPases associated with a variety of cellular activities
    7. XM_024451320.1XP_024307088.1  ATP-binding cassette sub-family A member 7 isoform X6

      Conserved Domains (1) summary
      cl28181
      Location:12029
      AAA; ATPases associated with a variety of cellular activities
    8. XM_024451317.1XP_024307085.1  ATP-binding cassette sub-family A member 7 isoform X2

      Conserved Domains (1) summary
      cl28181
      Location:12105
      AAA; ATPases associated with a variety of cellular activities
    9. XM_024451323.1XP_024307091.1  ATP-binding cassette sub-family A member 7 isoform X9

      Conserved Domains (1) summary
      cl28181
      Location:11988
      AAA; ATPases associated with a variety of cellular activities
    10. XM_011527633.2XP_011525935.1  ATP-binding cassette sub-family A member 7 isoform X11

      Conserved Domains (3) summary
      cd03263
      Location:8071026
      ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
      COG1122
      Location:8041022
      EcfA2; Energy-coupling factor transporter ATP-binding protein EcfA2 [Inorganic ion transport and metabolism, General function prediction only]
      pfam12698
      Location:14671606
      ABC2_membrane_3; ABC-2 family transporter protein
    11. XM_017026143.1XP_016881632.1  ATP-binding cassette sub-family A member 7 isoform X12

      Conserved Domains (3) summary
      cd03263
      Location:8071026
      ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
      COG1122
      Location:8041022
      EcfA2; Energy-coupling factor transporter ATP-binding protein EcfA2 [Inorganic ion transport and metabolism, General function prediction only]
      pfam12698
      Location:550750
      ABC2_membrane_3; ABC-2 family transporter protein
    12. XM_006722617.2XP_006722680.1  ATP-binding cassette sub-family A member 7 isoform X10

      Conserved Domains (3) summary
      cd03263
      Location:8071026
      ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
      COG1122
      Location:8041022
      EcfA2; Energy-coupling factor transporter ATP-binding protein EcfA2 [Inorganic ion transport and metabolism, General function prediction only]
      pfam12698
      Location:14671606
      ABC2_membrane_3; ABC-2 family transporter protein
    13. XM_011527635.1XP_011525937.1  ATP-binding cassette sub-family A member 7 isoform X12

      See identical proteins and their annotated locations for XP_011525937.1

      Conserved Domains (3) summary
      cd03263
      Location:8071026
      ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
      COG1122
      Location:8041022
      EcfA2; Energy-coupling factor transporter ATP-binding protein EcfA2 [Inorganic ion transport and metabolism, General function prediction only]
      pfam12698
      Location:550750
      ABC2_membrane_3; ABC-2 family transporter protein
    14. XM_011527634.1XP_011525936.1  ATP-binding cassette sub-family A member 7 isoform X12

      See identical proteins and their annotated locations for XP_011525936.1

      Conserved Domains (3) summary
      cd03263
      Location:8071026
      ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
      COG1122
      Location:8041022
      EcfA2; Energy-coupling factor transporter ATP-binding protein EcfA2 [Inorganic ion transport and metabolism, General function prediction only]
      pfam12698
      Location:550750
      ABC2_membrane_3; ABC-2 family transporter protein
    15. XM_024451322.1XP_024307090.1  ATP-binding cassette sub-family A member 7 isoform X8

      Related
      ENSP00000465322.1, ENST00000435683.6
      Conserved Domains (1) summary
      cl28181
      Location:401962
      AAA; ATPases associated with a variety of cellular activities
    16. XM_024451325.1XP_024307093.1  ATP-binding cassette sub-family A member 7 isoform X13

      Conserved Domains (1) summary
      cl28181
      Location:291333
      AAA; ATPases associated with a variety of cellular activities
    17. XM_024451324.1XP_024307092.1  ATP-binding cassette sub-family A member 7 isoform X13

      Conserved Domains (1) summary
      cl28181
      Location:291333
      AAA; ATPases associated with a variety of cellular activities

    RNA

    1. XR_936148.1 RNA Sequence

    2. XR_936149.1 RNA Sequence

    3. XR_002958241.1 RNA Sequence

    4. XR_936150.1 RNA Sequence

    5. XR_001753585.1 RNA Sequence

    6. XR_002958242.1 RNA Sequence

    7. XR_001753586.1 RNA Sequence

    8. XR_936153.1 RNA Sequence

    9. XR_002958240.1 RNA Sequence

    10. XR_936152.1 RNA Sequence

    11. XR_936154.1 RNA Sequence

    12. XR_936155.1 RNA Sequence

    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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