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

Gene ID: 10347, updated on 2-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
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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 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
Compare labs

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.