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Aliases for ABCA6 Gene

Aliases for ABCA6 Gene

  • ATP-Binding Cassette, Sub-Family A (ABC1), Member 6 2 3
  • ATP-Binding Cassette Sub-Family A Member 6 3
  • ATP-Binding Cassette A6 3
  • ABC Transporter ABCA6 3
  • EC 63
  • EC 63
  • EST155051 3
  • EC 3.6.3 63

External Ids for ABCA6 Gene

Previous GeneCards Identifiers for ABCA6 Gene

  • GC17M066873
  • GC17M070035
  • GC17M067539
  • GC17M067671
  • GC17M064586
  • GC17M067074
  • GC17M062462

Summaries for ABCA6 Gene

Entrez Gene Summary for ABCA6 Gene

  • The membrane-associated 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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded 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 gene is clustered among 4 other ABC1 family members on 17q24 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABCA6 Gene

ABCA6 (ATP-Binding Cassette, Sub-Family A (ABC1), Member 6) 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 ABC-family proteins mediated transport. GO annotations related to this gene include ATPase activity. An important paralog of this gene is ABCA4.

UniProtKB/Swiss-Prot for ABCA6 Gene

  • Probable transporter which may play a role in macrophage lipid homeostasis

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCA6 Gene

Genomics for ABCA6 Gene

Regulatory Elements for ABCA6 Gene

Genomic Location for ABCA6 Gene

69,078,691 bp from pter
69,143,262 bp from pter
64,572 bases
Minus strand

Genomic View for ABCA6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ABCA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCA6 Gene

Proteins for ABCA6 Gene

  • Protein details for ABCA6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ATP-binding cassette sub-family A member 6
    Protein Accession:
    Secondary Accessions:
    • Q6NSH9
    • Q8N856
    • Q8WWZ6

    Protein attributes for ABCA6 Gene

    1617 amino acids
    Molecular mass:
    184286 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAM77557.1; Type=Frameshift; Positions=998, 1000; Evidence={ECO:0000305}; Sequence=AAM77558.1; Type=Frameshift; Positions=998, 1000; Evidence={ECO:0000305}; Sequence=BAC04994.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ABCA6 Gene


neXtProt entry for ABCA6 Gene

Proteomics data for ABCA6 Gene at MOPED

Selected DME Specific Peptides for ABCA6 Gene

Post-translational modifications for ABCA6 Gene

  • Glycosylation at Asn84, Asn109, and Asn940
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCA6 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

Domains for ABCA6 Gene

Gene Families for ABCA6 Gene

  • ABCA :ATP binding cassette transporters / subfamily A

Protein Domains for ABCA6 Gene

Suggested Antigen Peptide Sequences for ABCA6 Gene

Graphical View of Domain Structure for InterPro Entry



  • Q8N139
  • Contains 2 ABC transporter domains.
  • Belongs to the ABC transporter superfamily. ABCA family.
genes like me logo Genes that share domains with ABCA6: view

Function for ABCA6 Gene

Molecular function for ABCA6 Gene

GENATLAS Biochemistry:
ATP binding cassette superfamily A,member 6
UniProtKB/Swiss-Prot Function:
Probable transporter which may play a role in macrophage lipid homeostasis
UniProtKB/Swiss-Prot Induction:
Up-regulated during monocyte differentiation into macrophages. Down-regulated by cholesterol loading of macrophages.

Enzyme Numbers (IUBMB) for ABCA6 Gene

Gene Ontology (GO) - Molecular Function for ABCA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IBA --
genes like me logo Genes that share ontologies with ABCA6: view

Animal Model Products

miRNA for ABCA6 Gene

miRTarBase miRNAs that target ABCA6

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ABCA6

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for ABCA6 Gene

Localization for ABCA6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCA6 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for ABCA6 Gene COMPARTMENTS Subcellular localization image for ABCA6 gene
Compartment Confidence
plasma membrane 3

Gene Ontology (GO) - Cellular Components for ABCA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IBA --
genes like me logo Genes that share ontologies with ABCA6: view

Pathways for ABCA6 Gene

genes like me logo Genes that share pathways with ABCA6: view

Pathways by source for ABCA6 Gene

Interacting Proteins for ABCA6 Gene

Gene Ontology (GO) - Biological Process for ABCA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006810 transport --
GO:0006869 lipid transport IBA --
GO:0008152 metabolic process IEA --
GO:0055085 transmembrane transport IBA --
genes like me logo Genes that share ontologies with ABCA6: view

Compounds for ABCA6 Gene

(1) Drugbank Compounds for ABCA6 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
20398-34-9 target
genes like me logo Genes that share compounds with ABCA6: view

Transcripts for ABCA6 Gene

Unigene Clusters for ABCA6 Gene

ATP-binding cassette, sub-family A (ABC1), member 6:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ABCA6

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCA6 Gene

No ASD Table

Relevant External Links for ABCA6 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ABCA6 Gene

mRNA expression in normal human tissues for ABCA6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for ABCA6 Gene

This gene is overexpressed in Liver (21.3), Adrenal (16.6), Gallbladder (15.0), and Fetal Liver (6.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ABCA6 Gene

SOURCE GeneReport for Unigene cluster for ABCA6 Gene Hs.709514

mRNA Expression by UniProt/SwissProt for ABCA6 Gene

Tissue specificity: Widely expressed with higher expression in liver.
genes like me logo Genes that share expressions with ABCA6: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Expression partners for ABCA6 Gene

Orthologs for ABCA6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCA6 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ABCA6 35
  • 78.75 (n)
  • 72.71 (a)
ABCA6 36
  • 72 (a)
(Canis familiaris)
Mammalia ABCA6 35
  • 82.5 (n)
  • 75.33 (a)
(Mus musculus)
Mammalia Abca6 35
  • 76.48 (n)
  • 67.97 (a)
Abca6 16
Abca6 36
  • 67 (a)
(Rattus norvegicus)
Mammalia Abca6 35
  • 75.4 (n)
  • 68.54 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 60 (a)
-- 36
  • 59 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 55 (a)
(Pan troglodytes)
Mammalia ABCA6 36
  • 99 (a)
(Gallus gallus)
Aves -- 36
  • 45 (a)
-- 36
  • 47 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 42 (a)
(Danio rerio)
Actinopterygii abch1 36
  • 17 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31731 36
  • 20 (a)
(Caenorhabditis elegans)
Secernentea abt-5 36
  • 19 (a)
(Oryza sativa)
Liliopsida Os.18695 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 28 (a)
Species with no ortholog for ABCA6:
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for ABCA6 Gene

Gene Tree for ABCA6 (if available)
Gene Tree for ABCA6 (if available)

Paralogs for ABCA6 Gene

Paralogs for ABCA6 Gene

Selected SIMAP similar genes for ABCA6 Gene using alignment to 2 proteins: Pseudogenes for ABCA6 Gene

genes like me logo Genes that share paralogs with ABCA6: view

Variants for ABCA6 Gene

Sequence variations from dbSNP and Humsavar for ABCA6 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs736528 -- 69,112,741(+) AAGCC(C/T)GGACT intron-variant
rs740516 -- 69,086,821(+) ATAAG(C/G)CAAAC intron-variant
rs740517 -- 69,086,998(+) AGTAA(A/C)CCTTA intron-variant
rs758255 -- 69,087,661(+) TTCTT(A/G)ATGTT intron-variant
rs763920 -- 69,094,059(-) ACATA(C/T)ACGTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ABCA6 Gene

Variant ID Type Subtype PubMed ID
nsv833526 CNV Gain 17160897
nsv908705 CNV Loss 21882294
nsv470598 CNV Loss 18288195
esv2556464 CNV Deletion 19546169
esv2069389 CNV Deletion 18987734
esv2615334 CNV Deletion 19546169
esv1450413 CNV Deletion 17803354
esv2716153 CNV Deletion 23290073
nsv2128 CNV Insertion 18451855

Relevant External Links for ABCA6 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCA6 Gene

Disorders for ABCA6 Gene

Relevant External Links for ABCA6

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator

No disorders were found for ABCA6 Gene.

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for ABCA6 Gene

Publications for ABCA6 Gene

  1. Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database. (PMID: 8894702) Allikmets R. … Dean M. (Hum. Mol. Genet. 1996) 2 3
  2. ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport. (PMID: 10639163) Klucken J. … Schmitz G. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4
  3. ABCA6, a novel A subclass ABC transporter. (PMID: 11478798) Kaminski W.E. … Schmitz G. (Biochem. Biophys. Res. Commun. 2001) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway. (PMID: 18676680) Hosgood H.D. … Lan Q. (Carcinogenesis 2008) 3 48

Products for ABCA6 Gene

Sources for ABCA6 Gene

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