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

    Gene ID: 10347, updated on 27-Nov-2024

    Summary

    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; AllianceGenome:HGNC:37
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ABCA7 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (1040107..1065572)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (1002776..1030237)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1040106..1065571)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:1025533-1026264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9652 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:1028384-1028559 Neighboring gene RNA, U6 small nuclear 2 Neighboring gene calponin 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1038259-1038760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1038761-1039260 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1041153-1041950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9654 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9655 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:1051115-1051279 Neighboring gene MPRA-validated peak3219 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1056183-1056682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1061566-1062329 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1063170-1064022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1066609-1067115 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9658 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9659 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13580 Neighboring gene Rho GTPase activating protein 45 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9660 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9661 Neighboring gene Sharpr-MPRA regulatory region 10458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13581 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9662 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1081390-1082265 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50734 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1085889-1086388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13582 Neighboring gene RNA polymerase II, I and III subunit E Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1094025-1094560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13583 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13585 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:1100293-1100430 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1101543-1102077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13587 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13588 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9664 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9665 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1106419-1107295 Neighboring gene glutathione peroxidase 4

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Alzheimer disease 9
    MedGen: C4282179 OMIM: 608907 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.
    EBI GWAS Catalog
    Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
    EBI GWAS Catalog
    Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
    EBI GWAS Catalog
    Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ40025

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ABC-type transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATPase-coupled transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables apolipoprotein A-I receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables apolipoprotein A-I receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables floppase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylcholine floppase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphatidylcholine floppase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylserine floppase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphatidylserine floppase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phospholipid transporter activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in amyloid-beta clearance by cellular catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in amyloid-beta formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in apolipoprotein A-I-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cholesterol efflux IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cholesterol efflux IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in high-density lipoprotein particle assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in memory ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of MAPK cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of PERK-mediated unfolded protein response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of amyloid precursor protein biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of amyloid-beta formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in peptide cross-linking ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in phagocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phospholipid efflux IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in phospholipid efflux IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in phospholipid efflux IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in phospholipid translocation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in plasma membrane raft organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of ERK1 and ERK2 cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of amyloid-beta clearance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cholesterol efflux ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of engulfment of apoptotic cell ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of phagocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of phospholipid efflux ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of protein localization to cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein localization to nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of amyloid precursor protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of lipid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in visual learning ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
     
    located_in cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glial cell projection ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in phagocytic cup ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in ruffle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    phospholipid-transporting ATPase ABCA7
    Names
    ATP-binding cassette sub-family A member 7
    ATP-binding cassette, sub-family A (ABC1), member 7
    autoantigen SS-N
    macrophage ABC transporter
    NP_061985.2
    XP_006722679.1
    XP_006722680.1
    XP_011525935.1
    XP_011525936.1
    XP_011525937.1
    XP_047294000.1
    XP_047294001.1
    XP_047294002.1
    XP_047294003.1
    XP_047294004.1
    XP_047294005.1
    XP_047294007.1
    XP_047294008.1
    XP_047294009.1
    XP_047294010.1
    XP_047294011.1
    XP_047294012.1
    XP_054175491.1
    XP_054175492.1
    XP_054175493.1
    XP_054175494.1
    XP_054175495.1
    XP_054175496.1
    XP_054175497.1
    XP_054175498.1
    XP_054175499.1
    XP_054175500.1
    XP_054175501.1
    XP_054175502.1
    XP_054175503.1
    XP_054175504.1
    XP_054175505.1
    XP_054175506.1
    XP_054175507.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5005..30470
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_019112.4NP_061985.2  phospholipid-transporting ATPase ABCA7

      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, Q96S58, Q9BZC4, Q9NR73, Q9UKP8
      Related
      ENSP00000263094.6, ENST00000263094.11
      Conserved Domains (1) summary
      TIGR01257
      Location:12109
      rim_protein; retinal-specific rim ABC transporter

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      1040107..1065572
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006722616.2XP_006722679.1  phospholipid-transporting ATPase ABCA7 isoform X3

      Conserved Domains (1) summary
      TIGR01257
      Location:12091
      rim_protein; retinal-specific rim ABC transporter
    2. XM_047438047.1XP_047294003.1  phospholipid-transporting ATPase ABCA7 isoform X4

    3. XM_047438048.1XP_047294004.1  phospholipid-transporting ATPase ABCA7 isoform X5

    4. XM_047438045.1XP_047294001.1  phospholipid-transporting ATPase ABCA7 isoform X2

    5. XM_047438044.1XP_047294000.1  phospholipid-transporting ATPase ABCA7 isoform X1

      UniProtKB/Swiss-Prot
      Q8IZY2, Q96S58, Q9BZC4, Q9NR73, Q9UKP8
    6. XM_047438046.1XP_047294002.1  phospholipid-transporting ATPase ABCA7 isoform X3

    7. XM_047438051.1XP_047294007.1  phospholipid-transporting ATPase ABCA7 isoform X7

    8. XM_047438052.1XP_047294008.1  phospholipid-transporting ATPase ABCA7 isoform X8

    9. XM_047438053.1XP_047294009.1  phospholipid-transporting ATPase ABCA7 isoform X11

    10. XM_011527633.3XP_011525935.1  phospholipid-transporting ATPase ABCA7 isoform X10

      Conserved Domains (1) summary
      TIGR01257
      Location:11610
      rim_protein; retinal-specific rim ABC transporter
    11. XM_006722617.3XP_006722680.1  phospholipid-transporting ATPase ABCA7 isoform X9

      Conserved Domains (1) summary
      TIGR01257
      Location:11610
      rim_protein; retinal-specific rim ABC transporter
    12. XM_011527635.2XP_011525937.1  phospholipid-transporting ATPase ABCA7 isoform X12

      See identical proteins and their annotated locations for XP_011525937.1

      Conserved Domains (1) summary
      TIGR01257
      Location:11472
      rim_protein; retinal-specific rim ABC transporter
    13. XM_011527634.2XP_011525936.1  phospholipid-transporting ATPase ABCA7 isoform X12

      See identical proteins and their annotated locations for XP_011525936.1

      Conserved Domains (1) summary
      TIGR01257
      Location:11472
      rim_protein; retinal-specific rim ABC transporter
    14. XM_047438056.1XP_047294012.1  phospholipid-transporting ATPase ABCA7 isoform X14

    15. XM_047438049.1XP_047294005.1  phospholipid-transporting ATPase ABCA7 isoform X6

    16. XM_047438055.1XP_047294011.1  phospholipid-transporting ATPase ABCA7 isoform X13

    17. XM_047438054.1XP_047294010.1  phospholipid-transporting ATPase ABCA7 isoform X13

    RNA

    1. XR_936149.2 RNA Sequence

    2. XR_936152.2 RNA Sequence

    3. XR_007066538.1 RNA Sequence

    4. XR_936154.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      1002776..1030237
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319518.1XP_054175493.1  phospholipid-transporting ATPase ABCA7 isoform X3

    2. XM_054319520.1XP_054175495.1  phospholipid-transporting ATPase ABCA7 isoform X4

    3. XM_054319521.1XP_054175496.1  phospholipid-transporting ATPase ABCA7 isoform X5

    4. XM_054319517.1XP_054175492.1  phospholipid-transporting ATPase ABCA7 isoform X2

    5. XM_054319516.1XP_054175491.1  phospholipid-transporting ATPase ABCA7 isoform X1

    6. XM_054319519.1XP_054175494.1  phospholipid-transporting ATPase ABCA7 isoform X3

    7. XM_054319523.1XP_054175498.1  phospholipid-transporting ATPase ABCA7 isoform X7

    8. XM_054319524.1XP_054175499.1  phospholipid-transporting ATPase ABCA7 isoform X8

    9. XM_054319527.1XP_054175502.1  phospholipid-transporting ATPase ABCA7 isoform X11

    10. XM_054319526.1XP_054175501.1  phospholipid-transporting ATPase ABCA7 isoform X10

    11. XM_054319525.1XP_054175500.1  phospholipid-transporting ATPase ABCA7 isoform X9

    12. XM_054319529.1XP_054175504.1  phospholipid-transporting ATPase ABCA7 isoform X12

    13. XM_054319528.1XP_054175503.1  phospholipid-transporting ATPase ABCA7 isoform X12

    14. XM_054319532.1XP_054175507.1  phospholipid-transporting ATPase ABCA7 isoform X14

    15. XM_054319522.1XP_054175497.1  phospholipid-transporting ATPase ABCA7 isoform X6

    16. XM_054319531.1XP_054175506.1  phospholipid-transporting ATPase ABCA7 isoform X13

    17. XM_054319530.1XP_054175505.1  phospholipid-transporting ATPase ABCA7 isoform X13

    RNA

    1. XR_008485063.1 RNA Sequence

    2. XR_008485065.1 RNA Sequence

    3. XR_008485064.1 RNA Sequence

    4. XR_008485066.1 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.