ABCA1

ABCA1
Identifiers
Aliases	ABCA1, ATP-binding cassette, sub-family A (ABC1), member 1, Abca1, ABC-1, Abc1, ABC1, CERP, HDLDT1, TGD, ATP binding cassette subfamily A member 1
External IDs	MGI: 99607 HomoloGene: 21130 GeneCards: ABCA1
Genetically Related Diseases
myopia, disease of metabolism, lipid metabolism disorder, coronary artery disease
Targeted by Drug
probucol
Gene ontology Molecular function • ATPase activity, coupled to transmembrane movement of substances • apolipoprotein binding • nucleotide binding • transporter activity • ATPase binding • apolipoprotein A-I receptor activity • anion transmembrane transporter activity • apolipoprotein A-I binding • phospholipid transporter activity • cholesterol binding • small GTPase binding • protein binding • syntaxin binding • receptor binding • phospholipid binding • ATP binding • cholesterol transporter activity • phosphatidylserine-translocating ATPase activity • ATPase activity • phosphatidylcholine-translocating ATPase activity Cellular component • integral component of membrane • Golgi apparatus • membrane • intracellular membrane-bounded organelle • plasma membrane • endocytic vesicle • integral component of plasma membrane • cell surface • phagocytic vesicle • high-density lipoprotein particle • perinuclear region of cytoplasm • membrane raft • external side of plasma membrane • endoplasmic reticulum membrane Biological process • lipoprotein metabolic process • positive regulation of cAMP biosynthetic process • G-protein coupled receptor signaling pathway • cellular response to retinoic acid • phospholipid homeostasis • steroid metabolic process • platelet dense granule organization • regulation of Cdc42 protein signal transduction • response to nutrient • lipid metabolic process • phospholipid efflux • phospholipid transport • cholesterol transport • response to laminar fluid shear stress • peptide secretion • cholesterol metabolic process • high-density lipoprotein particle assembly • cellular response to cholesterol • negative regulation of cholesterol storage • endosomal transport • phagocytosis, engulfment • anion transmembrane transport • intracellular cholesterol transport • interleukin-1 beta secretion • cholesterol efflux • transport • protein lipidation • lipoprotein biosynthetic process • lysosome organization • response to low-density lipoprotein particle • cellular response to lipopolysaccharide • negative regulation of macrophage derived foam cell differentiation • response to drug • reverse cholesterol transport • apolipoprotein A-I-mediated signaling pathway • positive regulation of cholesterol efflux • phospholipid translocation • regulation of high-density lipoprotein particle assembly • transmembrane transport • cholesterol homeostasis Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	19	11303
Ensembl	ENSG00000165029	ENSMUSG00000015243
UniProt	O95477	P41233
RefSeq (mRNA)	NM_005502	NM_013454
RefSeq (protein)	NP_005493	NP_038482.3
Location (UCSC)	Chr 9: 104.78 – 104.93 Mb	Chr 4: 53.03 – 53.16 Mb
PubMed search

19

11303

ENSG00000165029

ENSMUSG00000015243

O95477

P41233

NM_005502

NM_013454

NP_005493

NP_038482.3

ATP-binding cassette transporter ABCA1 (member 1 of human transporter sub-family ABCA), also known as the cholesterol efflux regulatory protein (CERP) is a protein which in humans is encoded by the ABCA1 gene. This transporter is a major regulator of cellular cholesterol and phospholipid homeostasis.

It was discovered that a mutation in the ABCA1 protein is responsible for causing Tangier's Disease by several groups in 1998. Gerd Schmitz's group in Germany and Michael Hayden's group in British Columbia were using standard genetics techniques and DNA from family pedigrees to locate the mutation. Richard Lawn's group at CV Therapeutics in Palo Alto, CA used cDNA microarrays, which were relatively new at the time, to assess gene expression profiles from cell lines created from normal and affected individuals. They showed cell lines from patients with Tangier's disease showed differential regulation of the ABCA1 gene. Subsequent sequencing of the gene identified the mutations. This group received an award from the American Heart Association for their discovery. Tangier disease has been identified in nearly 100 patients worldwide, and patients have a broad range of biochemical and clinical phenotypes as over 100 different mutations have been identified in ABCA1 resulting in the disease.

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Wikipedia