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Aliases for ABCA7 Gene

Aliases for ABCA7 Gene

  • ATP Binding Cassette Subfamily A Member 7 2 3 5
  • 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
  • EC 3.6.3.41 63
  • EC 2.2.1.1 63
  • EC 3.6.3 63
  • ABCX 3

External Ids for ABCA7 Gene

Previous GeneCards Identifiers for ABCA7 Gene

  • GC19P001116
  • GC19P000981
  • GC19P000992
  • GC19P000812

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 Subfamily A Member 7) is a Protein Coding gene. Among its related pathways are ABC-family proteins mediated transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include transporter activity and ATPase activity, coupled to transmembrane movement of substances. 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

Regulatory Elements for ABCA7 Gene

Enhancers for ABCA7 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ABCA7 on UCSC Golden Path with GeneCards custom track

Promoters for ABCA7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ABCA7 on UCSC Golden Path with GeneCards custom track

Genomic Location for ABCA7 Gene

Chromosome:
19
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

Genes around ABCA7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCA7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCA7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Antibody Products

Domains & Families for ABCA7 Gene

Gene Families for ABCA7 Gene

Protein Domains for ABCA7 Gene

Suggested Antigen Peptide Sequences for ABCA7 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IZY2

UniProtKB/Swiss-Prot:

ABCA7_HUMAN :
  • Contains 2 ABC transporter domains.
  • Belongs to the ABC transporter superfamily. ABCA family.
Domain:
  • Contains 2 ABC transporter domains.
Family:
  • Belongs to the ABC transporter superfamily. ABCA family.
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:0005515 protein binding IEA --
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:

Animal Model Products

  • Taconic Biosciences Mouse Models for ABCA7

miRNA for ABCA7 Gene

miRTarBase miRNAs that target ABCA7

No data available for Human Phenotype Ontology , Transcription Factor Targets 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. Early 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 (By similarity). Isoform 2 may localize to the endoplasmic reticulum (PubMed:14592415). {ECO:0000250 UniProtKB:Q91V24, ECO:0000269 PubMed:14592415}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABCA7 Gene COMPARTMENTS Subcellular localization image for ABCA7 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 5
endosome 3
cytosol 2
endoplasmic reticulum 1
extracellular 1

Gene Ontology (GO) - Cellular Components for ABCA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001891 phagocytic cup IEA,ISS --
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane IEA,TAS --
GO:0009986 cell surface IEA,ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ABCA7: view

Pathways & Interactions 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:0006909 phagocytosis IEA --
GO:0007613 memory IEA,ISS --
GO:0017121 phospholipid scrambling IDA 24097981
GO:0032780 negative regulation of ATPase activity IDA 24097981
GO:0032781 positive regulation of ATPase activity IDA 24097981
genes like me logo Genes that share ontologies with ABCA7: view

No data available for SIGNOR curated interactions for ABCA7 Gene

Drugs & Compounds for ABCA7 Gene

(1) Drugs for ABCA7 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(84) Additional Compounds for ABCA7 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
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 differential expression in normal tissues according to GTEx for ABCA7 Gene

This gene is overexpressed in Whole Blood (x13.7) and Pituitary (x6.0).

Protein differential expression in normal tissues from HIPED for ABCA7 Gene

This gene is overexpressed in Retina (28.2), Adipocyte (27.6), and Frontal cortex (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ABCA7: view

Protein tissue co-expression partners for ABCA7 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ABCA7 Gene

Orthologs for ABCA7 Gene

This gene was present in the common ancestor of animals.

Orthologs for ABCA7 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ABCA7 35
  • 83.22 (n)
  • 83.29 (a)
ABCA7 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCA7 35
  • 81.78 (n)
  • 80.03 (a)
ABCA7 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abca7 35
  • 78.02 (n)
  • 78.79 (a)
Abca7 16
Abca7 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ABCA7 35
  • 98.39 (n)
  • 98.13 (a)
rat
(Rattus norvegicus)
Mammalia Abca7 35
  • 78 (n)
  • 78.97 (a)
oppossum
(Monodelphis domestica)
Mammalia ABCA7 36
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 59 (a)
OneToMany
-- 36
  • 63 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
chicken
(Gallus gallus)
Aves ABCA7 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABCA7 36
  • 64 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ABCA7 (1 of 3) 36
  • 48 (a)
OneToMany
ABCA7 (2 of 3) 36
  • 62 (a)
OneToMany
ABCA7 (3 of 3) 36
  • 45 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta BG:DS00797.5 37
  • 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
rs3764645 - 1,042,810(+) CGCTG(A/G)GGACC nc-transcript-variant, reference, missense
rs3752232 - 1,043,749(+) AGCTC(A/G)CCCTG nc-transcript-variant, reference, missense
rs3764647 - 1,044,713(+) GGGGC(A/G)CCTGG nc-transcript-variant, reference, missense
rs3752233 - 1,045,174(+) CGTGC(A/C/G)CATCA nc-transcript-variant, reference, missense
rs3752239 - 1,047,538(+) GCACA(A/C)CGTGG nc-transcript-variant, upstream-variant-2KB, reference, missense

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

Variation tolerance for ABCA7 Gene

Residual Variation Intolerance Score: 99.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.08; 96.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCA7 Gene

Human Gene Mutation Database (HGMD)
ABCA7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCA7 Gene

Disorders for ABCA7 Gene

Relevant External Links for ABCA7

Genetic Association Database (GAD)
ABCA7
Human Genome Epidemiology (HuGE) Navigator
ABCA7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCA7

No disorders were found for ABCA7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 67
  2. Heterogeneity of high density lipoprotein generated by ABCA1 and ABCA7. (PMID: 15930518) Hayashi M. … Yokoyama S. (J. Lipid Res. 2005) 3 23
  3. 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 23
  4. Association of Brain DNA methylation in SORL1, ABCA7, HLA-DRB5, SLC24A4, and BIN1 with pathological diagnosis of Alzheimer disease. (PMID: 25365775) Yu L. … Bennett D.A. (JAMA Neurol 2015) 3
  5. Preferential incorporation of shorter and less unsaturated acyl phospholipids into high density lipoprotein-like particles in the ABCA1- and ABCA7-mediated biogenesis with apoA-I. (PMID: 25665932) Hotta N. … Yokoyama S. (Chem. Phys. Lipids 2015) 3

Products for ABCA7 Gene

Sources for ABCA7 Gene

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