NameApolipoprotein A-I
Synonyms
  • Apo-AI
  • Apolipoprotein A1
Gene NameAPOA1
OrganismHuman
Amino acid sequence
>lcl|BSEQ0017103|Apolipoprotein A-I
MKAAVLTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVDVLKDSGRDYVSQFEGS
ALGKQLNLKLLDNWDSVTSTFSKLREQLGPVTQEFWDNLEKETEGLRQEMSKDLEEVKAK
VQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHELQEKLSPLGEEMRDRARAHV
DALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHAKATEHLSTLSEKAKPALEDLRQ
GLLPVLESFKVSFLSALEEYTKKLNTQ
Number of residues267
Molecular Weight30777.58
Theoretical pI5.5
GO Classification
Functions
  • cholesterol binding
  • phosphatidylcholine-sterol O-acyltransferase activator activity
  • cholesterol transporter activity
  • phospholipid transporter activity
  • identical protein binding
  • phospholipid binding
  • lipase inhibitor activity
  • beta-amyloid binding
  • high-density lipoprotein particle binding
  • apolipoprotein A-I receptor binding
  • enzyme binding
  • apolipoprotein receptor binding
  • phosphatidylcholine binding
  • chemorepellent activity
  • high-density lipoprotein particle receptor binding
Processes
  • peripheral nervous system axon regeneration
  • blood coagulation
  • endothelial cell proliferation
  • transmembrane transport
  • triglyceride homeostasis
  • adrenal gland development
  • negative regulation of interleukin-1 beta secretion
  • regulation of intestinal cholesterol absorption
  • lipoprotein biosynthetic process
  • glucocorticoid metabolic process
  • neuron projection regeneration
  • positive regulation of stress fiber assembly
  • negative regulation of cell adhesion molecule production
  • response to nutrient
  • negative regulation of response to cytokine stimulus
  • response to drug
  • cellular lipid metabolic process
  • triglyceride catabolic process
  • negative regulation of cytokine secretion involved in immune response
  • receptor-mediated endocytosis
  • retinoid metabolic process
  • lipid storage
  • cholesterol efflux
  • positive regulation of substrate adhesion-dependent cell spreading
  • negative regulation of very-low-density lipoprotein particle remodeling
  • cellular protein metabolic process
  • cholesterol biosynthetic process
  • regulation of protein phosphorylation
  • cholesterol homeostasis
  • protein oxidation
  • cholesterol metabolic process
  • peptidyl-methionine modification
  • platelet degranulation
  • cholesterol transport
  • high-density lipoprotein particle assembly
  • negative regulation of lipase activity
  • G-protein coupled receptor signaling pathway
  • organ regeneration
  • positive regulation of lipoprotein lipase activity
  • lipoprotein metabolic process
  • negative chemotaxis
  • positive regulation of triglyceride catabolic process
  • vitamin transport
  • phospholipid efflux
  • positive regulation of hydrolase activity
  • integrin-mediated signaling pathway
  • phosphatidylcholine biosynthetic process
  • very-low-density lipoprotein particle remodeling
  • platelet activation
  • phospholipid homeostasis
  • positive regulation of fatty acid biosynthetic process
  • positive regulation of cholesterol esterification
  • negative regulation of tumor necrosis factor-mediated signaling pathway
  • regulation of Cdc42 protein signal transduction
  • response to estrogen
  • blood vessel endothelial cell migration
  • reverse cholesterol transport
  • phototransduction, visible light
  • positive regulation of Rho protein signal transduction
  • small molecule metabolic process
  • cholesterol import
  • negative regulation of inflammatory response
  • high-density lipoprotein particle clearance
  • negative regulation of heterotypic cell-cell adhesion
  • protein stabilization
  • high-density lipoprotein particle remodeling
Components
  • extracellular region
  • endoplasmic reticulum lumen
  • nucleus
  • plasma membrane
  • endocytic vesicle lumen
  • secretory granule lumen
  • extracellular vesicle
  • early endosome
  • chylomicron
  • extracellular space
  • cell surface
  • blood microparticle
  • cytoplasmic vesicle
  • discoidal high-density lipoprotein particle
  • high-density lipoprotein particle
  • spherical high-density lipoprotein particle
  • very-low-density lipoprotein particle
  • cytosol
  • endocytic vesicle
  • extracellular exosome
General FunctionPhospholipid transporter activity
Specific FunctionParticipates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP complex, activates spermatozoa motility.
Pfam Domain Function
Transmembrane RegionsNot Available
GenBank Protein IDNot Available
UniProtKB IDP02647
UniProtKB Entry NameAPOA1_HUMAN
Cellular LocationSecreted
Gene sequence
>lcl|BSEQ0017104|Apolipoprotein A-I (APOA1)
ATGAAAGCTGCGGTGCTGACCTTGGCCGTGCTCTTCCTGACGGGGAGCCAGGCTCGGCAT
TTCTGGCAGCAAGATGAACCCCCCCAGAGCCCCTGGGATCGAGTGAAGGACCTGGCCACT
GTGTACGTGGATGTGCTCAAAGACAGCGGCAGAGACTATGTGTCCCAGTTTGAAGGCTCC
GCCTTGGGAAAACAGCTAAACCTAAAGCTCCTTGACAACTGGGACAGCGTGACCTCCACC
TTCAGCAAGCTGCGCGAACAGCTCGGCCCTGTGACCCAGGAGTTCTGGGATAACCTGGAA
AAGGAGACAGAGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAG
GTGCAGCCCTACCTGGACGACTTCCAGAAGAAGTGGCAGGAGGAGATGGAGCTCTACCGC
CAGAAGGTGGAGCCGCTGCGCGCAGAGCTCCAAGAGGGCGCGCGCCAGAAGCTGCACGAG
CTGCAAGAGAAGCTGAGCCCACTGGGCGAGGAGATGCGCGACCGCGCGCGCGCCCATGTG
GACGCGCTGCGCACGCATCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCG
CGCCTTGAGGCTCTCAAGGAGAACGGCGGCGCCAGACTGGCCGAGTACCACGCCAAGGCC
ACCGAGCATCTGAGCACGCTCAGCGAGAAGGCCAAGCCCGCGCTCGAGGACCTCCGCCAA
GGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGTAC
ACTAAGAAGCTCAACACCCAGTGA
GenBank Gene IDBC110286
GeneCard IDNot Available
GenAtlas IDAPOA1
HGNC IDHGNC:600
Chromosome Location11
LocusNot Available
References
  1. Shoulders CC, Kornblihtt AR, Munro BS, Baralle FE: Gene structure of human apolipoprotein A1. Nucleic Acids Res. 1983 May 11;11(9):2827-37. 6406984
  2. Cheung P, Chan L: Nucleotide sequence of cloned cDNA of human apolipoprotein A-I. Nucleic Acids Res. 1983 Jun 11;11(11):3703-15. 6304641
  3. Karathanasis SK, Zannis VI, Breslow JL: Isolation and characterization of the human apolipoprotein A-I gene. Proc Natl Acad Sci U S A. 1983 Oct;80(20):6147-51. 6413973
  4. Seilhamer JJ, Protter AA, Frossard P, Levy-Wilson B: Isolation and DNA sequence of full-length cDNA and of the entire gene for human apolipoprotein AI--discovery of a new genetic polymorphism in the apo AI gene. DNA. 1984 Aug;3(4):309-17. 6207999
  5. Sharpe CR, Sidoli A, Shelley CS, Lucero MA, Shoulders CC, Baralle FE: Human apolipoproteins AI, AII, CII and CIII. cDNA sequences and mRNA abundance. Nucleic Acids Res. 1984 May 11;12(9):3917-32. 6328445
  6. Law SW, Brewer HB Jr: Nucleotide sequence and the encoded amino acids of human apolipoprotein A-I mRNA. Proc Natl Acad Sci U S A. 1984 Jan;81(1):66-70. 6198645
  7. Law SW, Brewer HB Jr: Tangier disease. The complete mRNA sequence encoding for preproapo-A-I. J Biol Chem. 1985 Oct 15;260(23):12810-4. 2995392
  8. Makrides SC, Ruiz-Opazo N, Hayden M, Nussbaum AL, Breslow JL, Zannis VI: Sequence and expression of Tangier apoA-I gene. Eur J Biochem. 1988 Apr 15;173(2):465-71. 3129297
  9. Moguilevsky N, Roobol C, Loriau R, Guillaume JP, Jacobs P, Cravador A, Herzog A, Brouwers L, Scarso A, Gilles P, et al.: Production of human recombinant proapolipoprotein A-I in Escherichia coli: purification and biochemical characterization. DNA. 1989 Jul-Aug;8(6):429-36. 2673706
  10. Fullerton SM, Buchanan AV, Sonpar VA, Taylor SL, Smith JD, Carlson CS, Salomaa V, Stengard JH, Boerwinkle E, Clark AG, Nickerson DA, Weiss KM: The effects of scale: variation in the APOA1/C3/A4/A5 gene cluster. Hum Genet. 2004 Jun;115(1):36-56. Epub 2004 Apr 24. 15108119
  11. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. 14702039
  12. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. 15489334
  13. Brewer HB Jr, Fairwell T, Kay L, Meng M, Ronan R, Law S, Light JA: Human plasma proapoA-I: isolation and amino-terminal sequence. Biochem Biophys Res Commun. 1983 Jun 15;113(2):626-32. 6409108
  14. Baker HN, Gotto AM Jr, Jackson RL: The primary structure of human plasma high density apolipoprotein glutamine I (ApoA-I). II. The amino acid sequence and alignment of cyanogen bromide fragments IV, III, and I. J Biol Chem. 1975 Apr 10;250(7):2725-38. 164450
  15. Brewer HB Jr, Fairwell T, LaRue A, Ronan R, Houser A, Bronzert TJ: The amino acid sequence of human APOA-I, an apolipoprotein isolated from high density lipoproteins. Biochem Biophys Res Commun. 1978 Feb 14;80(3):623-30. 204308
  16. Yui Y, Aoyama T, Morishita H, Takahashi M, Takatsu Y, Kawai C: Serum prostacyclin stabilizing factor is identical to apolipoprotein A-I (Apo A-I). A novel function of Apo A-I. J Clin Invest. 1988 Sep;82(3):803-7. 3047170
  17. Akerlof E, Jornvall H, Slotte H, Pousette A: Identification of apolipoprotein A1 and immunoglobulin as components of a serum complex that mediates activation of human sperm motility. Biochemistry. 1991 Sep 17;30(37):8986-90. 1909888
  18. Manjunath P, Marcel YL, Uma J, Seidah NG, Chretien M, Chapdelaine A: Apolipoprotein A-I binds to a family of bovine seminal plasma proteins. J Biol Chem. 1989 Oct 5;264(28):16853-7. 2506184
  19. Prioli RP, Ordovas JM, Rosenberg I, Schaefer EJ, Pereira ME: Similarity of cruzin, an inhibitor of Trypanosoma cruzi neuraminidase, to high-density lipoprotein. Science. 1987 Dec 4;238(4832):1417-9. 3120314
  20. Corbett JM, Wheeler CH, Baker CS, Yacoub MH, Dunn MJ: The human myocardial two-dimensional gel protein database: update 1994. Electrophoresis. 1994 Nov;15(11):1459-65. 7895732
  21. Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. Nat Biotechnol. 2003 May;21(5):566-9. Epub 2003 Mar 31. 12665801
  22. Ehnholm C, Bozas SE, Tenkanen H, Kirszbaum L, Metso J, Murphy B, Walker ID: The apolipoprotein A-I binding protein of placenta and the SP-40,40 protein of human blood are different proteins which both bind to apolipoprotein A-I. Biochim Biophys Acta. 1991 Nov 27;1086(3):255-60. 1742316
  23. Breslow JL, Ross D, McPherson J, Williams H, Kurnit D, Nussbaum AL, Karathanasis SK, Zannis VI: Isolation and characterization of cDNA clones for human apolipoprotein A-I. Proc Natl Acad Sci U S A. 1982 Nov;79(22):6861-5. 6294659
  24. Hoeg JM, Meng MS, Ronan R, Fairwell T, Brewer HB Jr: Human apolipoprotein A-I. Post-translational modification by fatty acid acylation. J Biol Chem. 1986 Mar 25;261(9):3911-4. 3005308
  25. Zannis VI, Karathanasis SK, Keutmann HT, Goldberger G, Breslow JL: Intracellular and extracellular processing of human apolipoprotein A-I: secreted apolipoprotein A-I isoprotein 2 is a propeptide. Proc Natl Acad Sci U S A. 1983 May;80(9):2574-8. 6405383
  26. Calvo C, Ulloa N, Campos M, Verdugo C, Ayrault-Jarrier M: The preferential site of non-enzymatic glycation of human apolipoprotein A-I in vivo. Clin Chim Acta. 1993 Aug 31;217(2):193-8. 8261628
  27. Ritter M, Buechler C, Boettcher A, Barlage S, Schmitz-Madry A, Orso E, Bared SM, Schmiedeknecht G, Baehr CH, Fricker G, Schmitz G: Cloning and characterization of a novel apolipoprotein A-I binding protein, AI-BP, secreted by cells of the kidney proximal tubules in response to HDL or ApoA-I. Genomics. 2002 May;79(5):693-702. 11991719
  28. Pankhurst G, Wang XL, Wilcken DE, Baernthaler G, Panzenbock U, Raftery M, Stocker R: Characterization of specifically oxidized apolipoproteins in mildly oxidized high density lipoprotein. J Lipid Res. 2003 Feb;44(2):349-55. Epub 2002 Nov 4. 12576517
  29. Niederkofler EE, Tubbs KA, Kiernan UA, Nedelkov D, Nelson RW: Novel mass spectrometric immunoassays for the rapid structural characterization of plasma apolipoproteins. J Lipid Res. 2003 Mar;44(3):630-9. Epub 2002 Dec 1. 12562854
  30. Hunter M, Angelicheva D, Tournev I, Ingley E, Chan DC, Watts GF, Kremensky I, Kalaydjieva L: NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24. Biochem Biophys Res Commun. 2005 Jul 15;332(4):982-92. 15922294
  31. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. 21269460
  32. Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J Proteomics. 2014 Jan 16;96:253-62. doi: 10.1016/j.jprot.2013.11.014. Epub 2013 Nov 22. 24275569
  33. Petrlova J, Dalla-Riva J, Morgelin M, Lindahl M, Krupinska E, Stenkula KG, Voss JC, Lagerstedt JO: Secondary structure changes in ApoA-I Milano (R173C) are not accompanied by a decrease in protein stability or solubility. PLoS One. 2014 Apr 22;9(4):e96150. doi: 10.1371/journal.pone.0096150. eCollection 2014. 24755625
  34. Wang G, Treleaven WD, Cushley RJ: Conformation of human serum apolipoprotein A-I(166-185) in the presence of sodium dodecyl sulfate or dodecylphosphocholine by 1H-NMR and CD. Evidence for specific peptide-SDS interactions. Biochim Biophys Acta. 1996 Jun 11;1301(3):174-84. 8664326
  35. Borhani DW, Rogers DP, Engler JA, Brouillette CG: Crystal structure of truncated human apolipoprotein A-I suggests a lipid-bound conformation. Proc Natl Acad Sci U S A. 1997 Nov 11;94(23):12291-6. 9356442
  36. Nakata K, Kobayashi K, Yanagi H, Shimakura Y, Tsuchiya S, Arinami T, Hamaguchi H: Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene. Biochem Biophys Res Commun. 1993 Oct 29;196(2):950-5. 8240372
  37. Ng DS, Leiter LA, Vezina C, Connelly PW, Hegele RA: Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia. J Clin Invest. 1994 Jan;93(1):223-9. 8282791
  38. Weisgraber KH, Rall SC Jr, Bersot TP, Mahley RW, Franceschini G, Sirtori CR: Apolipoprotein A-IMilano. Detection of normal A-I in affected subjects and evidence for a cysteine for arginine substitution in the variant A-I. J Biol Chem. 1983 Feb 25;258(4):2508-13. 6401735
  39. Schmitz G, Assmann G, Rall SC Jr, Mahley RW: Tangier disease: defective recombination of a specific Tangier apolipoprotein A-I isoform (pro-apo A-i) with high density lipoproteins. Proc Natl Acad Sci U S A. 1983 Oct;80(19):6081-5. 6412234
  40. Utermann G, Haas J, Steinmetz A, Paetzold R, Rall SC Jr, Weisgraber KH, Mahley RW: Apolipoprotein A-IGiessen (Pro143----Arg). A mutant that is defective in activating lecithin:cholesterol acyltransferase. Eur J Biochem. 1984 Oct 15;144(2):325-31. 6489332
  41. Rall SC Jr, Weisgraber KH, Mahley RW, Ogawa Y, Fielding CJ, Utermann G, Haas J, Steinmetz A, Menzel HJ, Assmann G: Abnormal lecithin:cholesterol acyltransferase activation by a human apolipoprotein A-I variant in which a single lysine residue is deleted. J Biol Chem. 1984 Aug 25;259(16):10063-70. 6432779
  42. Nichols WC, Dwulet FE, Liepnieks J, Benson MD: Variant apolipoprotein AI as a major constituent of a human hereditary amyloid. Biochem Biophys Res Commun. 1988 Oct 31;156(2):762-8. 3142462
  43. Nichols WC, Gregg RE, Brewer HB Jr, Benson MD: A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy. Genomics. 1990 Oct;8(2):318-23. 2123470
  44. Takada Y, Sasaki J, Ogata S, Nakanishi T, Ikehara Y, Arakawa K: Isolation and characterization of human apolipoprotein A-I Fukuoka (110 Glu----Lys). A novel apolipoprotein variant. Biochim Biophys Acta. 1990 Apr 2;1043(2):169-76. 2107878
  45. Soutar AK, Hawkins PN, Vigushin DM, Tennent GA, Booth SE, Hutton T, Nguyen O, Totty NF, Feest TG, Hsuan JJ, et al.: Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis. Proc Natl Acad Sci U S A. 1992 Aug 15;89(16):7389-93. 1502149
  46. Ladias JA, Kwiterovich PO Jr, Smith HH, Karathanasis SK, Antonarakis SE: Apolipoprotein A1 Baltimore (Arg10----Leu), a new ApoA1 variant. Hum Genet. 1990 Apr;84(5):439-45. 2108924
  47. von Eckardstein A, Funke H, Henke A, Altland K, Benninghoven A, Assmann G: Apolipoprotein A-I variants. Naturally occurring substitutions of proline residues affect plasma concentration of apolipoprotein A-I. J Clin Invest. 1989 Dec;84(6):1722-30. 2512329
  48. von Eckardstein A, Funke H, Walter M, Altland K, Benninghoven A, Assmann G: Structural analysis of human apolipoprotein A-I variants. Amino acid substitutions are nonrandomly distributed throughout the apolipoprotein A-I primary structure. J Biol Chem. 1990 May 25;265(15):8610-7. 2111322
  49. Araki K, Sasaki J, Matsunaga A, Takada Y, Moriyama K, Hidaka K, Arakawa K: Characterization of two new human apolipoprotein A-I variants: apolipoprotein A-I Tsushima (Trp-108-->Arg) and A-I Hita (Ala-95-->Asp). Biochim Biophys Acta. 1994 Oct 6;1214(3):272-8. 7918609
  50. Vigushin DM, Gough J, Allan D, Alguacil A, Penner B, Pettigrew NM, Quinonez G, Bernstein K, Booth SE, Booth DR, et al.: Familial nephropathic systemic amyloidosis caused by apolipoprotein AI variant Arg26. Q J Med. 1994 Mar;87(3):149-54. 8208902
  51. Huang W, Sasaki J, Matsunaga A, Nanimatsu H, Moriyama K, Han H, Kugi M, Koga T, Yamaguchi K, Arakawa K: A novel homozygous missense mutation in the apo A-I gene with apo A-I deficiency. Arterioscler Thromb Vasc Biol. 1998 Mar;18(3):389-96. 9514407
  52. Morabia A, Cayanis E, Costanza MC, Ross BM, Flaherty MS, Alvin GB, Das K, Gilliam TC: 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. 2003 Nov 1;12(21):2733-43. Epub 2003 Sep 9. 12966036
  53. Su ZD, Sun L, Yu DX, Li RX, Li HX, Yu ZJ, Sheng QH, Lin X, Zeng R, Wu JR: Quantitative detection of single amino acid polymorphisms by targeted proteomics. J Mol Cell Biol. 2011 Oct;3(5):309-15. doi: 10.1093/jmcb/mjr024. 22028381
  54. Anthanont P, Asztalos BF, Polisecki E, Zachariah B, Schaefer EJ: Case report: A novel apolipoprotein A-I missense mutation apoA-I (Arg149Ser)Boston associated with decreased lecithin-cholesterol acyltransferase activation and cellular cholesterol efflux. J Clin Lipidol. 2015 May-Jun;9(3):390-5. doi: 10.1016/j.jacl.2015.02.005. Epub 2015 Mar 5. 26073399