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

Gene ID: 10347, updated on 8-Jul-2021

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
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:
47
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (1040107..1065572)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1040106..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, I and III subunit E 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, type 9
MedGen: C4282179 OMIM: 608907 GeneReviews: Not available
Compare labs
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.
GeneReviews: Not available
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
GeneReviews: Not available
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
GeneReviews: Not available
Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 ATPase-coupled transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables apolipoprotein A-I receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 lipid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables phosphatidylcholine floppase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
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 lipid transport IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
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
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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_016881632.1
XP_024307083.1
XP_024307084.1
XP_024307085.1
XP_024307086.1
XP_024307087.1
XP_024307088.1
XP_024307089.1
XP_024307090.1
XP_024307091.1
XP_024307092.1
XP_024307093.1

NCBI Reference Sequences (RefSeq)

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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
    UniProtKB/TrEMBL
    B3KUJ3
    Related
    ENSP00000263094.6, ENST00000263094.11
    Conserved Domains (1) summary
    TIGR01257
    Location:12109
    rim_protein; retinal-specific rim ABC transporter

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024451316.1XP_024307084.1  phospholipid-transporting ATPase ABCA7 isoform X1

    Conserved Domains (1) summary
    TIGR01257
    Location:12114
    rim_protein; retinal-specific rim ABC transporter
  2. XM_024451315.1XP_024307083.1  phospholipid-transporting ATPase ABCA7 isoform X1

    Conserved Domains (1) summary
    TIGR01257
    Location:12114
    rim_protein; retinal-specific rim ABC transporter
  3. XM_024451318.1XP_024307086.1  phospholipid-transporting ATPase ABCA7 isoform X3

    Conserved Domains (1) summary
    TIGR01257
    Location:12096
    rim_protein; retinal-specific rim ABC transporter
  4. XM_006722616.1XP_006722679.1  phospholipid-transporting ATPase ABCA7 isoform X4

    Conserved Domains (1) summary
    TIGR01257
    Location:12091
    rim_protein; retinal-specific rim ABC transporter
  5. XM_024451319.1XP_024307087.1  phospholipid-transporting ATPase ABCA7 isoform X5

    Conserved Domains (1) summary
    TIGR01257
    Location:12071
    rim_protein; retinal-specific rim ABC transporter
  6. XM_024451321.1XP_024307089.1  phospholipid-transporting ATPase ABCA7 isoform X7

    Conserved Domains (1) summary
    TIGR01257
    Location:11965
    rim_protein; retinal-specific rim ABC transporter
  7. XM_024451320.1XP_024307088.1  phospholipid-transporting ATPase ABCA7 isoform X6

    Related
    ENST00000433129.6
    Conserved Domains (1) summary
    TIGR01257
    Location:12029
    rim_protein; retinal-specific rim ABC transporter
  8. XM_024451317.1XP_024307085.1  phospholipid-transporting ATPase ABCA7 isoform X2

    Conserved Domains (1) summary
    TIGR01257
    Location:12105
    rim_protein; retinal-specific rim ABC transporter
  9. XM_024451323.1XP_024307091.1  phospholipid-transporting ATPase ABCA7 isoform X9

    Conserved Domains (1) summary
    TIGR01257
    Location:11988
    rim_protein; retinal-specific rim ABC transporter
  10. XM_011527633.2XP_011525935.1  phospholipid-transporting ATPase ABCA7 isoform X11

    Conserved Domains (1) summary
    TIGR01257
    Location:11610
    rim_protein; retinal-specific rim ABC transporter
  11. XM_017026143.1XP_016881632.1  phospholipid-transporting ATPase ABCA7 isoform X12

    Conserved Domains (1) summary
    TIGR01257
    Location:11472
    rim_protein; retinal-specific rim ABC transporter
  12. XM_006722617.2XP_006722680.1  phospholipid-transporting ATPase ABCA7 isoform X10

    Conserved Domains (1) summary
    TIGR01257
    Location:11610
    rim_protein; retinal-specific rim ABC transporter
  13. XM_011527635.1XP_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
  14. XM_011527634.1XP_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
  15. XM_024451322.1XP_024307090.1  phospholipid-transporting ATPase ABCA7 isoform X8

    Conserved Domains (1) summary
    TIGR01257
    Location:401962
    rim_protein; retinal-specific rim ABC transporter
  16. XM_024451325.1XP_024307093.1  phospholipid-transporting ATPase ABCA7 isoform X13

    Conserved Domains (1) summary
    TIGR01257
    Location:291333
    rim_protein; retinal-specific rim ABC transporter
  17. XM_024451324.1XP_024307092.1  phospholipid-transporting ATPase ABCA7 isoform X13

    Conserved Domains (1) summary
    TIGR01257
    Location:291333
    rim_protein; retinal-specific rim ABC transporter

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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