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Aliases for ABCA1 Gene

Aliases for ABCA1 Gene

  • ATP-Binding Cassette, Sub-Family A (ABC1), Member 1 2 3
  • ABC1 3 4 6
  • Cholesterol Efflux Regulatory Protein 3 4
  • HDLDT1 3 6
  • ABC-1 3 4
  • CERP 3 4
  • TGD 3 6
  • ATP-Binding Cassette Sub-Family A Member 1 3
  • ATP-Binding Cassette Transporter A1 3
  • ATP-Binding Cassette Transporter 1 4
  • ATP-Binding Cassette 1 4
  • Tangier Disease 2
  • Membrane-Bound 3
  • EC 63
  • EC 63
  • EC 63
  • EC 3.6.3 63

External Ids for ABCA1 Gene

Previous Symbols for ABCA1 Gene

  • ABC1
  • HDLDT1

Summaries for ABCA1 Gene

Entrez Gene Summary for ABCA1 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, 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. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABCA1 Gene

ABCA1 (ATP-Binding Cassette, Sub-Family A (ABC1), Member 1) is a Protein Coding gene. Diseases associated with ABCA1 include tangier disease and abca1-related disorders. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include phospholipid binding and cholesterol binding. An important paralog of this gene is ABCA4.

UniProtKB/Swiss-Prot for ABCA1 Gene

  • cAMP-dependent and sulfonylurea-sensitive anion transporter. Key gatekeeper influencing intracellular cholesterol transport

Gene Wiki entry for ABCA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCA1 Gene

Genomics for ABCA1 Gene

Genomic Location for ABCA1 Gene

104,781,002 bp from pter
104,928,246 bp from pter
147,245 bases
Minus strand

Genomic View for ABCA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ABCA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCA1 Gene

Regulatory Elements for ABCA1 Gene

Proteins for ABCA1 Gene

  • Protein details for ABCA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ATP-binding cassette sub-family A member 1
    Protein Accession:
    Secondary Accessions:
    • Q5VX33
    • Q96S56
    • Q96T85
    • Q9NQV4
    • Q9UN06
    • Q9UN07
    • Q9UN08
    • Q9UN09

    Protein attributes for ABCA1 Gene

    2261 amino acids
    Molecular mass:
    254302 Da
    Quaternary structure:
    • Interacts with MEGF10.
    • Sequence=AAD49849.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA10005.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for ABCA1 Gene

Proteomics data for ABCA1 Gene at MOPED

Selected DME Specific Peptides for ABCA1 Gene

Post-translational modifications for ABCA1 Gene

  • Palmitoylation by DHHC8 is essential for membrane localization.
  • Phosphorylation on Ser-2054 regulates phospholipid efflux.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn14, Asn98, Asn151, Asn161, Asn196, Asn244, Asn292, Asn337, Asn349, Asn400, Asn478, Asn489, Asn521, Asn820, Asn1144, Asn1294, Asn1453, Asn1504, Asn1637, Asn2044, and Asn2238

Other Protein References for ABCA1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for ABCA1 Gene

Gene Families for ABCA1 Gene

  • ABCA :ATP binding cassette transporters / subfamily A

Protein Domains for ABCA1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain:
    • O95477
  • Contains 2 ABC transporter domains.:
    • O95477
  • Belongs to the ABC transporter superfamily. ABCA family.:
    • O95477
genes like me logo Genes that share domains with ABCA1: view

Function for ABCA1 Gene

Molecular function for ABCA1 Gene

GENATLAS Biochemistry: ATP binding cassette superfamily,subfamily A,member 1,mouse ABC1 homolog,widely expressed,cholesterol carrying out of the cell for uptake into HDL particles
UniProtKB/Swiss-Prot Function: cAMP-dependent and sulfonylurea-sensitive anion transporter. Key gatekeeper influencing intracellular cholesterol transport
UniProtKB/Swiss-Prot Induction: By bacterial lipopolysaccharides (LPS). LPS regulates expression through a liver X receptor (LXR) -independent mechanism. Repressed by ZNF202.

Enzyme Numbers (IUBMB) for ABCA1 Gene

Gene Ontology (GO) - Molecular Function for ABCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IPI 23931754
GO:0005515 protein binding IPI 12084722
GO:0005524 ATP binding IDA 11700048
GO:0005543 phospholipid binding IC 16702602
GO:0005548 phospholipid transporter activity IDA 16702602
genes like me logo Genes that share ontologies with ABCA1: view
genes like me logo Genes that share phenotypes with ABCA1: view

Animal Models for ABCA1 Gene

MGI Knock Outs for ABCA1:

No data available for Transcription Factor Targeting and HOMER Transcription for ABCA1 Gene

Localization for ABCA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCA1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for ABCA1 Gene COMPARTMENTS Subcellular localization image for ABCA1 gene
Compartment Confidence
plasma membrane 4
extracellular 3
endoplasmic reticulum 2
endosome 2
golgi apparatus 2
nucleus 2
peroxisome 2
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ABCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 10525055
GO:0009897 external side of plasma membrane IEA --
GO:0009986 cell surface --
genes like me logo Genes that share ontologies with ABCA1: view

Pathways for ABCA1 Gene

genes like me logo Genes that share pathways with ABCA1: view

Gene Ontology (GO) - Biological Process for ABCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002790 peptide secretion IEA --
GO:0006200 obsolete ATP catabolic process --
GO:0006497 protein lipidation IEA --
GO:0006911 phagocytosis, engulfment IEA --
GO:0007040 lysosome organization IDA 15163665
genes like me logo Genes that share ontologies with ABCA1: view

Compounds for ABCA1 Gene

(2) HMDB Compounds for ABCA1 Gene

Compound Synonyms Cas Number PubMed IDs
  • (+)-ent-Cholesterol
Cyclic AMP
  • Cyclic AMP

(3) Drugbank Compounds for ABCA1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Adenosine triphosphate
  • 5'-ATP
56-65-5 target
  • Apo-Glibenclamide
10238-21-8 target inhibitor
  • 4,4'- (Isopropylidenedithio)bis(2, 6-di-tert-butylphenol)
23288-49-5 target inhibitor

(81) Novoseek inferred chemical compound relationships for ABCA1 Gene

Compound -log(P) Hits PubMed IDs
cholesterol 88.9 386
22r-hydroxycholesterol 85.1 15
24(s),25-epoxycholesterol 82.9 6
sterol 78.6 34
abc2 76.7 4

(4) PharmGKB related drug/compound annotations for ABCA1 Gene

Drug/compound Annotation
atorvastatin CA
fenofibrate CA
pravastatin CA
simvastatin CA
genes like me logo Genes that share compounds with ABCA1: view

Transcripts for ABCA1 Gene

Unigene Clusters for ABCA1 Gene

ATP-binding cassette, sub-family A (ABC1), member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ABCA1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: -
SP3: -

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49a ·
SP1: -

ExUns: 49b ^ 50a · 50b

Relevant External Links for ABCA1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ABCA1 Gene

mRNA expression in normal human tissues for ABCA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABCA1 Gene

This gene is overexpressed in Adrenal Gland (4.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ABCA1 Gene

SOURCE GeneReport for Unigene cluster for ABCA1 Gene Hs.659274

mRNA Expression by UniProt/SwissProt for ABCA1 Gene

Tissue specificity: Widely expressed, but most abundant in macrophages
genes like me logo Genes that share expressions with ABCA1: view

Orthologs for ABCA1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCA1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ABCA1 35
  • 99.57 (n)
  • 99.56 (a)
ABCA1 36
  • 100 (a)
(Bos Taurus)
Mammalia ABCA1 35
  • 90.71 (n)
  • 94.74 (a)
ABCA1 36
  • 95 (a)
(Canis familiaris)
Mammalia ABCA1 35
  • 90.84 (n)
  • 95.13 (a)
ABCA1 36
  • 95 (a)
(Mus musculus)
Mammalia Abca1 35
  • 88.99 (n)
  • 95.31 (a)
Abca1 16
Abca1 36
  • 95 (a)
(Monodelphis domestica)
Mammalia ABCA1 36
  • 90 (a)
(Ornithorhynchus anatinus)
Mammalia ABCA1 36
  • 89 (a)
(Rattus norvegicus)
Mammalia Abca1 35
  • 88.37 (n)
  • 93.73 (a)
(Gallus gallus)
Aves ABCA1 35
  • 78.5 (n)
  • 85.8 (a)
ABCA1 36
  • 85 (a)
(Anolis carolinensis)
Reptilia ABCA1 36
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia abca1 35
  • 74.4 (n)
  • 81.5 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4770 35
(Danio rerio)
Actinopterygii abca1a 35
  • 70.78 (n)
  • 74.99 (a)
abca1a 36
  • 74 (a)
abca1b 35
abca1b 36
  • 73 (a)
fruit fly
(Drosophila melanogaster)
Insecta BG:DS00797.5 37
  • 30 (a)
(Caenorhabditis elegans)
Secernentea abt-2 35
  • 45.87 (n)
  • 34.98 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons ABCA1 35
  • 47.35 (n)
  • 38.55 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11872 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.341 36
  • 36 (a)
Species with no ortholog for ABCA1:
  • 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)
  • rice (Oryza sativa)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCA1 Gene

Gene Tree for ABCA1 (if available)
Gene Tree for ABCA1 (if available)

Paralogs for ABCA1 Gene

Paralogs for ABCA1 Gene

genes like me logo Genes that share paralogs with ABCA1: view

Variants for ABCA1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ABCA1 Gene

Genetic variations in ABCA1 define the high density lipoprotein cholesterol level quantitative trait locus 13 (HDLCQ13) [MIM:600046]

Sequence variations from dbSNP and Humsavar for ABCA1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs363717 -- 104,782,419(-) TTCCA(A/G)AATTT utr-variant-3-prime
rs893058 -- 104,901,612(+) GATAA(A/C)CACGG intron-variant
rs914544 -- 104,844,931(+) TCTGA(C/T)ACATT intron-variant
rs914545 -- 104,802,460(+) GCTCG(G/T)GTGTG intron-variant
rs914546 -- 104,802,558(+) GGCTC(C/T)GGCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ABCA1 Gene

Variant ID Type Subtype PubMed ID
nsv6650 CNV Loss 18451855
esv2738878 CNV Deletion 23290073
dgv1366e199 CNV Deletion 23128226
esv8704 CNV Loss 19470904
nsv825026 CNV Loss 20364138
esv22475 CNV Loss 19812545
nsv893673 CNV Loss 21882294
nsv893674 CNV Loss 21882294
nsv466471 CNV Loss 19166990
nsv893675 CNV Gain 21882294
nsv893676 CNV Loss 21882294
nsv893677 CNV Loss 21882294
dgv8269n71 CNV Gain+Loss 21882294
nsv893680 CNV Loss 21882294
dgv8270n71 CNV Loss 21882294
esv2738879 CNV Deletion 23290073
nsv44 CNV Insertion 15895083
nsv6651 CNV Insertion 18451855
nsv509315 CNV Insertion 20534489
nsv893683 CNV Gain 21882294
nsv6652 CNV Loss 18451855
nsv528797 CNV Loss 19592680
nsv524600 CNV Gain 19592680
esv274886 CNV Gain+Loss 21479260

Relevant External Links for ABCA1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

Disorders for ABCA1 Gene

(3) OMIM Diseases for ABCA1 Gene (600046)


  • High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]: Recessive disorder characterized by absence of high density lipoprotein (HDL) cholesterol from plasma, accumulation of cholesteryl esters, premature coronary artery disease (CAD), hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness. {ECO:0000269 PubMed:10431236, ECO:0000269 PubMed:10431237, ECO:0000269 PubMed:10706591, ECO:0000269 PubMed:10938021, ECO:0000269 PubMed:11086027, ECO:0000269 PubMed:11257260, ECO:0000269 PubMed:11476961, ECO:0000269 PubMed:11476965, ECO:0000269 PubMed:11785958, ECO:0000269 PubMed:12111371, ECO:0000269 PubMed:12111381, ECO:0000269 PubMed:12407001, ECO:0000269 PubMed:14576201, ECO:0000269 PubMed:15019541, ECO:0000269 PubMed:15158913, ECO:0000269 PubMed:15262183, ECO:0000269 PubMed:15297675, ECO:0000269 PubMed:15520867}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]: Inherited as autosomal dominant trait. It is characterized by moderately low HDL cholesterol, predilection toward premature coronary artery disease (CAD) and a reduction in cellular cholesterol efflux. {ECO:0000269 PubMed:10431236, ECO:0000269 PubMed:10533863, ECO:0000269 PubMed:10938021, ECO:0000269 PubMed:11086027, ECO:0000269 PubMed:12009425, ECO:0000269 PubMed:12204794, ECO:0000269 PubMed:15722566}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(45) Novoseek inferred disease relationships for ABCA1 Gene

Disease -log(P) Hits PubMed IDs
tangier disease 97.4 119
lipoprotein deficiencies 87.1 7
hypoalphalipoproteinemia 81.9 7
atherosclerosis 77.8 91
hyperalphalipoproteinemia 63.7 1

Relevant External Links for ABCA1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with ABCA1: view

Publications for ABCA1 Gene

  1. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. (PMID: 10431237) Bodzioch M. … Schmitz G. (Nat. Genet. 1999) 2 3 4 23
  2. Tangier disease is caused by mutations in the gene encoding ATP- binding cassette transporter 1. (PMID: 10431238) Rust S. … Assmann G. (Nat. Genet. 1999) 2 3 4 23
  3. Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. (PMID: 11238261) Clee S.M. … Hayden M.R. (Circulation 2001) 3 4 23 48
  4. Common variants in the gene encoding ATP-binding cassette transporter 1 in men with low HDL cholesterol levels and coronary heart disease. (PMID: 11257261) Brousseau M.E. … Schmitz G. (Atherosclerosis 2001) 3 4 23 48
  5. A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia. (PMID: 12624133) Cenarro A. … Civeira F. (J. Med. Genet. 2003) 3 4 23 48

Products for ABCA1 Gene

Sources for ABCA1 Gene

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