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

Gene ID: 10347, updated on 13-Feb-2019

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

Genomic context

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

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Alzheimer disease, type 9
MedGen: C4282179 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

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 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

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
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apolipoprotein A-I receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
lipid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylcholine-translocating ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylcholine-translocating ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylserine-translocating ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylserine-translocating ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
amyloid-beta clearance by cellular catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
amyloid-beta formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
apolipoprotein A-I-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol efflux IBA
Inferred from Biological aspect of Ancestor
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
 
negative regulation of endocytosis 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipid efflux IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid translocation IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane raft organization ISS
Inferred from Sequence or Structural Similarity
more info
 
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
 
positive regulation of protein localization to cell surface ISS
Inferred from Sequence or Structural Similarity
more info
 
protein localization to nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of amyloid precursor protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 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
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
glial cell projection ISS
Inferred from Sequence or Structural Similarity
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
 

General protein information

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

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.

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

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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