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Aliases for ABCA7 Gene

Aliases for ABCA7 Gene

  • ATP-Binding Cassette, Sub-Family A (ABC1), Member 7 2 3
  • Macrophage ABC Transporter 3 4
  • Autoantigen SS-N 3 4
  • ABCA-SSN 3 4
  • ABCX 3 6
  • ATP-Binding Cassette Sub-Family A Member 7 3
  • EC 3.6.3.41 64
  • EC 2.2.1.1 64
  • EC 3.6.3 64

External Ids for ABCA7 Gene

Summaries for ABCA7 Gene

Entrez Gene Summary for ABCA7 Gene

  • 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]

GeneCards Summary for ABCA7 Gene

ABCA7 (ATP-Binding Cassette, Sub-Family A (ABC1), Member 7) is a Protein Coding gene. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF). GO annotations related to this gene include transporter activity and phospholipid transporter activity. An important paralog of this gene is ABCA4.

UniProtKB/Swiss-Prot for ABCA7 Gene

  • Plays a role in phagocytosis by macrophages of apoptotic cells. Binds APOA1 and may function in apolipoprotein-mediated phospholipid efflux from cells. May also mediate cholesterol efflux. May regulate cellular ceramide homeostasis during keratinocytes differentiation.

Gene Wiki entry for ABCA7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCA7 Gene

Genomics for ABCA7 Gene

Genomic Location for ABCA7 Gene

Start:
1,040,101 bp from pter
End:
1,065,572 bp from pter
Size:
25,472 bases
Orientation:
Plus strand

Genomic View for ABCA7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ABCA7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCA7 Gene

Regulatory Elements for ABCA7 Gene

Proteins for ABCA7 Gene

  • Protein details for ABCA7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZY2-ABCA7_HUMAN
    Recommended name:
    ATP-binding cassette sub-family A member 7
    Protein Accession:
    Q8IZY2
    Secondary Accessions:
    • Q96S58
    • Q9BZC4
    • Q9NR73
    • Q9UKP8

    Protein attributes for ABCA7 Gene

    Size:
    2146 amino acids
    Molecular mass:
    234350 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ABCA7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCA7 Gene

Proteomics data for ABCA7 Gene at MOPED

Selected DME Specific Peptides for ABCA7 Gene

Post-translational modifications for ABCA7 Gene

Other Protein References for ABCA7 Gene

Domains for ABCA7 Gene

Gene Families for ABCA7 Gene

HGNC:
  • ABCA :ATP binding cassette transporters / subfamily A
IUPHAR :

Protein Domains for ABCA7 Gene

UniProtKB/Swiss-Prot:

ABCA7_HUMAN
Domain:
  • Contains 2 ABC transporter domains.:
    • Q8IZY2
Family:
  • Belongs to the ABC transporter superfamily. ABCA family.:
    • Q8IZY2
genes like me logo Genes that share domains with ABCA7: view

Function for ABCA7 Gene

Molecular function for ABCA7 Gene

UniProtKB/Swiss-Prot Function: Plays a role in phagocytosis by macrophages of apoptotic cells. Binds APOA1 and may function in apolipoprotein-mediated phospholipid efflux from cells. May also mediate cholesterol efflux. May regulate cellular ceramide homeostasis during keratinocytes differentiation.
UniProtKB/Swiss-Prot Induction: Up-regulated in macrophages upon cholesterol uptake and inversely regulated upon cholesterol deloading from the cells (at protein level). Up-regulated in keratinocytes during terminal differentiation.

Enzyme Numbers (IUBMB) for ABCA7 Gene

Gene Ontology (GO) - Molecular Function for ABCA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 10873640
GO:0005515 protein binding --
GO:0005524 ATP binding IEA --
GO:0005548 phospholipid transporter activity IBA --
GO:0016887 contributes_to ATPase activity IDA 24097981
genes like me logo Genes that share ontologies with ABCA7: view
genes like me logo Genes that share phenotypes with ABCA7: view

Animal Models for ABCA7 Gene

MGI Knock Outs for ABCA7:

miRNA for ABCA7 Gene

miRTarBase miRNAs that target ABCA7

No data available for Transcription Factor Targeting and HOMER Transcription for ABCA7 Gene

Localization for ABCA7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCA7 Gene

Cell membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Endosome membrane; Multi-pass membrane protein. Note=Localizes to cell membrane ruffles and phagocytic cups of macrophages stimulated with C1q or apoptotic cells. Localizes to the cytoplasm of resting macrophages, probably in Golgi and endosomes. Localizes to the apical brush border of cells in the proximal tubules of kidney. Isoform 2 may localize to the endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABCA7 Gene COMPARTMENTS Subcellular localization image for ABCA7 gene
Compartment Confidence
endosome 5
golgi apparatus 5
plasma membrane 5
cytosol 3
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ABCA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0001891 phagocytic cup ISS --
GO:0005622 intracellular --
GO:0005737 cytoplasm IDA --
GO:0005768 endosome --
genes like me logo Genes that share ontologies with ABCA7: view

Pathways for ABCA7 Gene

genes like me logo Genes that share pathways with ABCA7: view

Pathways by source for ABCA7 Gene

Interacting Proteins for ABCA7 Gene

Gene Ontology (GO) - Biological Process for ABCA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006909 phagocytosis IEA --
GO:0007613 memory ISS --
GO:0010875 positive regulation of cholesterol efflux ISS --
GO:0017121 phospholipid scrambling IDA 24097981
genes like me logo Genes that share ontologies with ABCA7: view

Compounds for ABCA7 Gene

(110) HMDB Compounds for ABCA7 Gene

Compound Synonyms Cas Number PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • Sulfatide (d18:1/12:0)
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • Sulfatide (d18:1/14:0)
Not Available
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • Sulfatide (d18:1/16:0)
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • Sulfatide (d18:1/18:0)
244215-65-4
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))
  • Sulfatide (d18:1/18:1(9Z))
Not Available

(4) Novoseek inferred chemical compound relationships for ABCA7 Gene

Compound -log(P) Hits PubMed IDs
sterol 59.3 2
cholesterol 50 13
phospholipid 50 3
lipid 36.4 5
genes like me logo Genes that share compounds with ABCA7: view

Transcripts for ABCA7 Gene

Unigene Clusters for ABCA7 Gene

ATP-binding cassette, sub-family A (ABC1), member 7:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ABCA7 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7: -
SP8:
SP9: -
SP10:
SP11:

ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34 ^ 35a · 35b · 35c ^ 36 ^ 37a · 37b ^ 38 ^ 39 ^ 40 ^
SP1:
SP2: -
SP3:
SP4: -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 41 ^ 42 ^ 43a · 43b ^ 44 ^ 45a · 45b · 45c ^ 46 ^ 47 ^ 48
SP1: - -
SP2: - -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for ABCA7 Gene

GeneLoc Exon Structure for
ABCA7
ECgene alternative splicing isoforms for
ABCA7

Expression for ABCA7 Gene

mRNA expression in normal human tissues for ABCA7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABCA7 Gene

This gene is overexpressed in Whole Blood (13.7) and Pituitary (6.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ABCA7 Gene

SOURCE GeneReport for Unigene cluster for ABCA7 Gene Hs.134514

mRNA Expression by UniProt/SwissProt for ABCA7 Gene

Q8IZY2-ABCA7_HUMAN
Tissue specificity: Expressed in leukocytes (at protein level). Widely expressed. Highly expressed in myelo-lymphatic tissues including peripheral leukocytes, thymus, spleen and bone marrow. Isoform 2 is more abundant in lymph node, spleen, thymus and trachea than isoform 1 which is more strongly expressed in brain and bone marrow.
genes like me logo Genes that share expressions with ABCA7: view

Orthologs for ABCA7 Gene

This gene was present in the common ancestor of animals.

Orthologs for ABCA7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABCA7 36
  • 98.39 (n)
  • 98.13 (a)
cow
(Bos Taurus)
Mammalia ABCA7 36
  • 83.22 (n)
  • 83.29 (a)
ABCA7 37
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCA7 36
  • 81.78 (n)
  • 80.03 (a)
ABCA7 37
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abca7 36
  • 78.02 (n)
  • 78.79 (a)
Abca7 16
Abca7 37
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABCA7 37
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 59 (a)
OneToMany
-- 37
  • 63 (a)
OneToMany
-- 37
  • 83 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Abca7 36
  • 78 (n)
  • 78.97 (a)
chicken
(Gallus gallus)
Aves ABCA7 37
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABCA7 37
  • 64 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ABCA7 (1 of 3) 37
  • 48 (a)
OneToMany
ABCA7 (2 of 3) 37
  • 62 (a)
OneToMany
ABCA7 (3 of 3) 37
  • 45 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta BG:DS00797.5 38
  • 32 (a)
Species with no ortholog for ABCA7:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ABCA7 Gene

ENSEMBL:
Gene Tree for ABCA7 (if available)
TreeFam:
Gene Tree for ABCA7 (if available)

Paralogs for ABCA7 Gene

Paralogs for ABCA7 Gene

genes like me logo Genes that share paralogs with ABCA7: view

Variants for ABCA7 Gene

Sequence variations from dbSNP and Humsavar for ABCA7 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs881768 -- 1,056,066(-) CCGTA(C/T)CTGTG reference, synonymous-codon, nc-transcript-variant
rs905150 -- 1,060,208(-) aaaaa(A/T)aTATA intron-variant
rs1060676 -- 1,059,167(+) CTGAA(A/C)ACCTA intron-variant
rs1135643 -- 1,038,872(+) CCCAG(C/G)CCCTC upstream-variant-2KB
rs1137776 -- 1,059,244(+) TATTA(A/T)ATTAt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ABCA7 Gene

Variant ID Type Subtype PubMed ID
dgv3513n71 CNV Loss 21882294
dgv3552n71 CNV Loss 21882294
nsv910292 CNV Loss 21882294
nsv910310 CNV Loss 21882294
dgv3555n71 CNV Loss 21882294
dgv3560n71 CNV Loss 21882294
nsv9662 CNV Gain 18304495
dgv3566n71 CNV Loss 21882294
nsv469845 CNV Loss 16826518
essv258 CNV CNV 17122850
nsv833704 CNV Gain 17160897
dgv1055e1 CNV Complex 17122850
dgv3569n71 CNV Loss 21882294
nsv910383 CNV Gain 21882294
nsv910384 CNV Loss 21882294
dgv3574n71 CNV Loss 21882294
dgv3575n71 CNV Loss 21882294
nsv910388 CNV Gain 21882294
nsv910392 CNV Gain 21882294
dgv3576n71 CNV Loss 21882294
dgv3577n71 CNV Loss 21882294
esv2657477 CNV Deletion 23128226
nsv910401 CNV Loss 21882294
nsv470102 CNV Loss 18288195
esv1005530 CNV Insertion 20482838
esv26912 CNV Gain 19812545
esv1435034 CNV Deletion 17803354
esv2717823 CNV Deletion 23290073
esv2717824 CNV Deletion 23290073
esv2717825 CNV Deletion 23290073
dgv3578n71 CNV Loss 21882294
nsv910404 CNV Loss 21882294
dgv3579n71 CNV Loss 21882294
nsv828361 CNV Gain 20364138
nsv910409 CNV Loss 21882294

Relevant External Links for ABCA7 Gene

HapMap Linkage Disequilibrium report
ABCA7
Human Gene Mutation Database (HGMD)
ABCA7

Disorders for ABCA7 Gene

(2) University of Copenhagen DISEASES for ABCA7 Gene

Relevant External Links for ABCA7

Genetic Association Database (GAD)
ABCA7
Human Genome Epidemiology (HuGE) Navigator
ABCA7
genes like me logo Genes that share disorders with ABCA7: view

No data available for UniProtKB/Swiss-Prot for ABCA7 Gene

Publications for ABCA7 Gene

  1. Identification of a novel human sterol-sensitive ATP-binding cassette transporter (ABCA7). (PMID: 10873640) Kaminski W.E. … Schmitz G. (Biochem. Biophys. Res. Commun. 2000) 3 4 23
  2. Human ABCA7 supports apolipoprotein-mediated release of cellular cholesterol and phospholipid to generate high density lipoprotein. (PMID: 14570867) Abe-Dohmae S. … Yokoyama S. (J. Biol. Chem. 2004) 3 4 23
  3. Heterogeneity of high density lipoprotein generated by ABCA1 and ABCA7. (PMID: 15930518) Hayashi M. … Yokoyama S. (J. Lipid Res. 2005) 3 23
  4. Genomic organization of the human cholesterol-responsive ABC transporter ABCA7: tandem linkage with the minor histocompatibility antigen HA-1 gene. (PMID: 11095984) Kaminski W.E. … Schmitz G. (Biochem. Biophys. Res. Commun. 2000) 3 4
  5. Human ABCA1 contains a large amino-terminal extracellular domain homologous to an epitope of Sjogren's Syndrome. (PMID: 11355874) Tanaka A.R. … Ueda K. (Biochem. Biophys. Res. Commun. 2001) 3 4

Products for ABCA7 Gene

Sources for ABCA7 Gene

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