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ATP Binding Cassette Transporter A1 (ABCA1)

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CERP; ABC-A1; ABC1; HDLDT1; TGD; Cholesterol Efflux Regulatory Protein; Tangier Disease

ATP Binding Cassette Transporter A1 (ABCA1)
CCC B242
HGNC 29
MGI 99607
PubMed 18427282
RGD 631344
UniProt O95477
Wiki ABCA1

ABCA1 was discovered as the mutation 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 effected 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPB242Hu01 Recombinant ATP Binding Cassette Transporter A1 (ABCA1) Positive Control; Immunogen; SDS-PAGE; WB.
RPB242Hu02 Recombinant ATP Binding Cassette Transporter A1 (ABCA1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAB242Hu01 Polyclonal Antibody to ATP Binding Cassette Transporter A1 (ABCA1) WB; IHC; ICC; IP.
MAB242Hu22 Monoclonal Antibody to ATP Binding Cassette Transporter A1 (ABCA1) WB; IHC; ICC; IP.
Assay Kits SEB242Hu ELISA Kit for ATP Binding Cassette Transporter A1 (ABCA1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPB242Mu01 Recombinant ATP Binding Cassette Transporter A1 (ABCA1) Positive Control; Immunogen; SDS-PAGE; WB.
RPB242Mu02 Recombinant ATP Binding Cassette Transporter A1 (ABCA1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAB242Mu01 Polyclonal Antibody to ATP Binding Cassette Transporter A1 (ABCA1) WB; IHC; ICC; IP.
PAB242Mu02 Polyclonal Antibody to ATP Binding Cassette Transporter A1 (ABCA1) WB; IHC; ICC; IP.
Assay Kits SEB242Mu ELISA Kit for ATP Binding Cassette Transporter A1 (ABCA1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant ATP Binding Cassette Transporter A1 (ABCA1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to ATP Binding Cassette Transporter A1 (ABCA1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to ATP Binding Cassette Transporter A1 (ABCA1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for ATP Binding Cassette Transporter A1 (ABCA1) CLIA Kit Customized Service Offer
n/a ELISA Kit for ATP Binding Cassette Transporter A1 (ABCA1) ELISA Kit Customized Service Offer
  1. "Complete genomic sequence of the human ABCA1 gene: analysis of the human and mouse ATP-binding cassette A promoter."Proc. Natl. Acad. Sci. U.S.A. 97:7987-7992(2000) [PubMed] [Europe PMC] [Abstract]
  2. "Human and mouse ABCA1 comparative sequencing and transgenesis studies revealing novel regulatory sequences."Genomics 73:66-76(2001) [PubMed] [Europe PMC] [Abstract]
  3. "DNA sequence and analysis of human chromosome 9." Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Molecular cloning of the human ATP-binding cassette transporter 1 (hABC1): evidence for sterol-dependent regulation in macrophages."Biochem. Biophys. Res. Commun. 257:29-33(1999) [PubMed] [Europe PMC] [Abstract]
  5. "Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1."Nat. Genet. 22:352-355(1999) [PubMed] [Europe PMC] [Abstract]
  6. "Protein kinase A site-specific phosphorylation regulates ATP-binding cassette A1 (ABCA1)-mediated phospholipid efflux."J. Biol. Chem. 277:41835-41842(2002) [PubMed] [Europe PMC] [Abstract]
  7. "The zinc finger protein 202 (ZNF202) is a transcriptional repressor of ATP binding cassette transporter A1 (ABCA1) and ABCG1 gene expression and a modulator of cellular lipid efflux."J. Biol. Chem. 276:12427-12433(2001) [PubMed] [Europe PMC] [Abstract]
  8. "Bacterial lipopolysaccharide induces expression of ABCA1 but not ABCG1 via an LXR-independent pathway."J. Lipid Res. 43:952-959(2002) [PubMed] [Europe PMC] [Abstract]
  9. "Cooperation between engulfment receptors: the case of ABCA1 and MEGF10."PLoS ONE 1:E120-E120(2006) [PubMed] [Europe PMC] [Abstract]
  10. "Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene."Arterioscler. Thromb. Vasc. Biol. 23:1322-1332(2003) [PubMed] [Europe PMC] [Abstract]
  11. "Palmitoylation of ATP-binding cassette transporter A1 is essential for its trafficking and function."Circ. Res. 105:138-147(2009) [PubMed] [Europe PMC] [Abstract]
  12. "Formation of two intramolecular disulfide bonds is necessary for ApoA-I-dependent cholesterol efflux mediated by ABCA1."J. Biol. Chem. 284:11293-11300(2009) [PubMed] [Europe PMC] [Abstract]
  13. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
  14. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  15. "Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux."Lancet 354:1341-1346(1999) [PubMed] [Europe PMC] [Abstract]
  16. "Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency." Nat. Genet. 22:336-345(1999) [PubMed] [Europe PMC] [Abstract]
  17. "The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease."Nat. Genet. 22:347-351(1999) [PubMed] [Europe PMC] [Abstract]
  18. "Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes."J. Clin. Invest. 106:1263-1270(2000) [PubMed] [Europe PMC] [Abstract]
  19. "Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds."J. Lipid Res. 41:433-441(2000) [PubMed] [Europe PMC] [Abstract]
  20. "Common and rare ABCA1 variants affecting plasma HDL cholesterol."Arterioscler. Thromb. Vasc. Biol. 20:1983-1989(2000) [PubMed] [Europe PMC] [Abstract]
  21. "A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease."Atherosclerosis 154:599-605(2001) [PubMed] [Europe PMC] [Abstract]
  22. "Common variants in the gene encoding ATP-binding cassette transporter 1 in men with low HDL cholesterol levels and coronary heart disease."Atherosclerosis 154:607-611(2001) [PubMed] [Europe PMC] [Abstract]
  23. "Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome."Biochim. Biophys. Acta 1537:42-48(2001) [PubMed] [Europe PMC] [Abstract]
  24. "Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease."Biochim. Biophys. Acta 1537:71-78(2001) [PubMed] [Europe PMC] [Abstract]
  25. "Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease."Circulation 103:1198-1205(2001) [PubMed] [Europe PMC] [Abstract]
  26. "ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease."Atherosclerosis 164:245-250(2002) [PubMed] [Europe PMC] [Abstract]
  27. "Novel ABCA1 compound variant associated with HDL cholesterol deficiency."Biochim. Biophys. Acta 1587:60-64(2002) [PubMed] [Europe PMC] [Abstract]
  28. "Expression and functional analyses of novel mutations of ATP-binding cassette transporter-1 in Japanese patients with high-density lipoprotein deficiency." Biochem. Biophys. Res. Commun. 290:713-721(2002) [PubMed] [Europe PMC] [Abstract]
  29. "Lack of association between increased carotid intima-media thickening and decreased HDL-cholesterol in a family with a novel ABCA1 variant, G2265T."Clin. Chem. 48:2066-2070(2002) [PubMed] [Europe PMC] [Abstract]
  30. "Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 (ABCA1) gene in Japanese patients with Tangier disease."J. Hum. Genet. 47:325-329(2002) [PubMed] [Europe PMC] [Abstract]
  31. "Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis."J. Hum. Genet. 47:366-369(2002) [PubMed] [Europe PMC] [Abstract]
  32. "Novel polypyrimidine variation (IVS46: del T -39._.-46) in ABCA1 causes exon skipping and contributes to HDL cholesterol deficiency in a family with premature coronary disease."Circ. Res. 93:1006-1012(2003) [PubMed] [Europe PMC] [Abstract]
  33. "ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore."Hum. Genet. 113:106-117(2003) [PubMed] [Europe PMC] [Abstract]
  34. "Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors."Hum. Mol. Genet. 12:2733-2743(2003) [PubMed] [Europe PMC] [Abstract]
  35. "A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia."J. Med. Genet. 40:163-168(2003) [PubMed] [Europe PMC] [Abstract]
  36. "Screening for functional sequence variations and mutations in ABCA1."Atherosclerosis 175:269-279(2004) [PubMed] [Europe PMC] [Abstract]
  37. "Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders."Atherosclerosis 172:309-320(2004) [PubMed] [Europe PMC] [Abstract]
  38. "Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency."Biochim. Biophys. Acta 1689:47-57(2004) [PubMed] [Europe PMC] [Abstract]
  39. "Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population."J. Clin. Invest. 114:1343-1353(2004) [PubMed] [Europe PMC] [Abstract]
  40. "Multiple rare alleles contribute to low plasma levels of HDL cholesterol."Science 305:869-872(2004) [PubMed] [Europe PMC] [Abstract]
  41. "A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome."Blood 106:542-549(2005) [PubMed] [Europe PMC] [Abstract]
  42. "Mutation in ABCA1 predicted risk of ischemic heart disease in the Copenhagen City Heart Study Population."J. Am. Coll. Cardiol. 46:1516-1520(2005) [PubMed] [Europe PMC] [Abstract]
  43. "Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency."J. Lipid Res. 46:817-822(2005) [PubMed] [Europe PMC] [Abstract]
  44. "The consensus coding sequences of human breast and colorectal cancers." Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]