ABCA1 - ATP binding cassette subfamily A member 1 Gene
Also Known as TGD; ABC1; CERP; ABC-1; HDLDT1; HPALP1; HDLCQTL13
Species: Homo sapiens
About ABCA1
This gene has 5 transcripts (splice variants), 306 orthologues, 11 paralogues and is associated with 5 phenotypes. Ubiquitous expression in adrenal (RPKM 14.4), fat (RPKM 9.9) and 23 other tissues.
Summary
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 both alleles of this gene cause Tangier disease and familial high-density lipoprotein (HDL) deficiency. [provided by RefSeq, Sep 2019]
ABCA1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_005502.4 | NP_005493.2 | phospholipid-transporting ATPase ABCA1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables ATP binding |
IDA
IDA: Inferred from direct assay
|
11700048 | GOA |
| enables ATPase binding |
IPI
IPI: Inferred from physical interaction
|
23931754 | GOA |
| enables apolipoprotein A-I binding |
IPI
IPI: Inferred from physical interaction
|
11162594 | GOA |
| enables apolipoprotein A-I receptor activity |
IDA
IDA: Inferred from direct assay
|
16443932 | GOA |
| enables apolipoprotein binding |
IPI
IPI: Inferred from physical interaction
|
11162594 | GOA |
| enables cholesterol transfer activity |
IDA
IDA: Inferred from direct assay
|
12084722 | GOA |
| enables floppase activity |
IDA
IDA: Inferred from direct assay
|
16702602 | GOA |
| enables phosphatidylcholine binding |
IDA
IDA: Inferred from direct assay
|
24097981 | GOA |
| enables phosphatidylcholine floppase activity |
IDA
IDA: Inferred from direct assay
|
16702602 | GOA |
| enables phosphatidylcholine floppase activity |
IMP
IMP: Inferred from mutant phenotype
|
35974019 | GOA |
| enables phosphatidylserine floppase activity |
IDA
IDA: Inferred from direct assay
|
24097981 | GOA |
| enables phospholipid transporter activity |
IGI
IGI: Inferred from genetic interaction
|
28373057 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
12084722 | GOA |
| enables signaling receptor binding |
IPI
IPI: Inferred from physical interaction
|
23931754 | GOA |
| enables small GTPase binding |
IPI
IPI: Inferred from physical interaction
|
16443932 | GOA |
| enables sphingolipid floppase activity |
IDA
IDA: Inferred from direct assay
|
24097981 | GOA |
| enables syntaxin binding |
IPI
IPI: Inferred from physical interaction
|
15469992 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in endocytic vesicle |
IDA
IDA: Inferred from direct assay
|
14747463 | GOA |
| located in endosome |
IDA
IDA: Inferred from direct assay
|
24097981 | GOA |
| located in intracellular vesicle |
IDA
IDA: Inferred from direct assay
|
28373057 | GOA |
| located in membrane raft |
IDA
IDA: Inferred from direct assay
|
15469992 | GOA |
| located in perinuclear region of cytoplasm |
IDA
IDA: Inferred from direct assay
|
23931754 | GOA |
| located in phagocytic vesicle |
IDA
IDA: Inferred from direct assay
|
15469992 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
10525055 | GOA |
| located in plasma membrane |
IMP
IMP: Inferred from mutant phenotype
|
35974019 | GOA |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
phospholipid-transporting ATPase ABCA1 |
|
ABCA1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
ABCA1 | O95477 | STX12 | Homo sapiens | Q86Y82 | 15469992 | |
|
Intra
|
ABCA1 | O95477 | STX12 | Homo sapiens | Q86Y82 | 15469992 | |
|
Intra
|
ABCA1 | O95477 | STX12 | Homo sapiens | Q86Y82 | 15469992 | |
|
Intra
|
ABCA1 | O95477 | SNTB1 | Homo sapiens | Q13884 | 16192269 | |
|
Intra
|
ABCA1 | O95477 | CANX | Homo sapiens | P27824 | 25170080 | |
|
Intra
|
ABCA1 | O95477 | CANX | Homo sapiens | P27824 | 25170080 | |
|
Intra
|
ABCA1 | O95477 | APOA1 | Homo sapiens | P02647 | 30458687 | |
|
Intra
|
ABCA1 | O95477 | APOA1 | Homo sapiens | P02647 | 30458687 | |
|
Intra
|
ABCA1 | O95477 | SNTA1 | Homo sapiens | Q13424 | 16192269 | |
|
Intra
|
ABCA1 | O95477 | SNTA1 | Homo sapiens | Q13424 | 16192269 | |
|
Intra
|
ABCA1 | O95477 | ABCA12 | Homo sapiens | Q86UK0 | 23931754 | |
|
Intra
|
ABCA1 | O95477 | ABCA12 | Homo sapiens | Q86UK0 | 23931754 | |
|
Intra
|
ABCA1 | O95477 | ABCA12 | Homo sapiens | Q86UK0 | 23931754 | |
|
Intra
|
ABCA1 | O95477 | ABCA12 | Homo sapiens | Q86UK0 | 23931754 |
ABCA1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P810289 | ABCA1 Antibody | WB | Human, Mouse, Rat |
| HY-P83876 | ABCA1 Antibody (YA3573) | IHC-P, ICC/IF, FC | Human, Mouse, Rat, Rabbit, Monkey |
| HY-P83876A | ABCA1 Antibody (YA3573)(PBS only) | IHC-P, ICC/IF, FC | Human, Mouse, Rat, Rabbit, Monkey |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Tangier Disease |
|
|
| Hypoalphalipoproteinemia, Primary, 1 |
|
|
| Hypoalphalipoproteinemia, Primary, 2 |
|
|
| Hypolipoproteinemia |
|
|
| Hypoalphalipoproteinemia |
|
|
| Coronary Heart Disease 5 |
|
|
| Scott Syndrome |
|
|
| Lysosomal Acid Lipase Deficiency |
|
|
| Smith-Lemli-Opitz Syndrome |
|
|
| Atherosclerosis Susceptibility |
|
|
| Hyperalphalipoproteinemia 1 |
|
|
| Niemann-Pick Disease, Type C1 |
|
|
| Pulmonary Alveolar Proteinosis |
|
|
| Xanthomatosis |
|
|
| Lipid Metabolism Disorder |
|
|
| Aortic Atherosclerosis |
|
|
| Cardiovascular System Disease |
|
|
| Familial Hypercholesterolemia |
|
|
| Splenomegaly |
|
|
| Lipoprotein Quantitative Trait Locus |
|
|
| Sitosterolemia |
|
|
| Vascular Disease |
|
|
| Breast Cancer |
|
|
| C Syndrome |
|
|
| Myocardial Infarction |
|
|
| Polyneuropathy |
|
|
| Lysosomal And Lipase Deficiency |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Malaria |
|
|
| Macular Degeneration, Age-Related, 1 |
|
|
| Heart Disease |
|
|
| Cholesterol Ester Storage Disease |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Diabetes Mellitus |
|
|
| Ichthyosis, Congenital, Autosomal Recessive 4a |
|
|
| Niemann-Pick Disease |
|
|
| Glaucoma, Primary Open Angle |
|
|
| Stargardt Disease |
|
|
| Autosomal Recessive Congenital Ichthyosis |
|
|
| Stroke, Ischemic |
|
|
| Prostate Cancer |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Hypertension, Essential |
|
|
| Nervous System Disease |
|
|
| Retinitis Pigmentosa |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | ABCA1 | VGNC | VGNC:69545 |
| Felis catus | ABCA1 | VGNC | VGNC:59461 |
| Mus musculus | ABCA1 | MGD | MGI:99607 |
| Rattus norvegicus | ABCA1 | RGD | RGD:631344 |
| Canis familiaris | ABCA1 | VGNC | VGNC:37422 |
| Bos taurus | ABCA1 | VGNC | VGNC:25455 |
| Others | ABCA1 | NCBI |