Details for: APOA1

Gene ID: 335

Symbol: APOA1

Ensembl ID: ENSG00000118137

Description: apolipoprotein A1

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 14.09
    Marker Score: 46,176
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 5.53
    Marker Score: 9,394
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 3.99
    Marker Score: 21,470
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 3.86
    Marker Score: 22,918
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 3.51
    Marker Score: 2,189
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 2.84
    Marker Score: 1,058
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 2.74
    Marker Score: 2,930
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 2.68
    Marker Score: 4,129
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 2.45
    Marker Score: 10,565
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 2.26
    Marker Score: 14,519
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 2.21
    Marker Score: 39,291
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 2.05
    Marker Score: 9,830
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 2.05
    Marker Score: 2,205
  • Cell Name: enterocyte of epithelium proper of ileum (CL1000342)
    Fold Change: 2
    Marker Score: 579
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 1.98
    Marker Score: 1,983
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.7
    Marker Score: 3,518
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.62
    Marker Score: 609
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 1.61
    Marker Score: 501
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 1.6
    Marker Score: 439
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 169,341
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 1.46
    Marker Score: 319
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 1.42
    Marker Score: 1,359
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.25
    Marker Score: 855
  • Cell Name: progenitor cell of endocrine pancreas (CL0002351)
    Fold Change: 1.11
    Marker Score: 241
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.05
    Marker Score: 1,179
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 1.01
    Marker Score: 244
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 1
    Marker Score: 534
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,807
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,031
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,407
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.97
    Marker Score: 498
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.96
    Marker Score: 452
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.95
    Marker Score: 895
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.95
    Marker Score: 1,014
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,411
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.95
    Marker Score: 1,535
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5,315
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,734
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.89
    Marker Score: 334
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.88
    Marker Score: 318
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,296
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.85
    Marker Score: 246
  • Cell Name: intraepithelial lymphocyte (CL0002496)
    Fold Change: 0.78
    Marker Score: 870
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.76
    Marker Score: 581
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 387
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.74
    Marker Score: 381
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.74
    Marker Score: 3,085
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.74
    Marker Score: 671
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 466
  • Cell Name: theca cell (CL0000503)
    Fold Change: 0.72
    Marker Score: 516
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.71
    Marker Score: 285
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.7
    Marker Score: 1,663
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.7
    Marker Score: 1,639
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.69
    Marker Score: 286
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 173
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.66
    Marker Score: 318
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.65
    Marker Score: 169
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.63
    Marker Score: 156
  • Cell Name: NKp44-negative group 3 innate lymphoid cell, human (CL0001080)
    Fold Change: 0.61
    Marker Score: 135
  • Cell Name: type I enteroendocrine cell (CL0002277)
    Fold Change: 0.61
    Marker Score: 151
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.6
    Marker Score: 596
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.59
    Marker Score: 1,125
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.57
    Marker Score: 8,994
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.57
    Marker Score: 260
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 440
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.54
    Marker Score: 378
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 0.54
    Marker Score: 147
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.54
    Marker Score: 225
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.52
    Marker Score: 3,403
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.51
    Marker Score: 215
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.51
    Marker Score: 1,610
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.51
    Marker Score: 721
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.5
    Marker Score: 1,184
  • Cell Name: activated CD8-positive, alpha-beta T cell (CL0000906)
    Fold Change: 0.49
    Marker Score: 355
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.48
    Marker Score: 318
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 0.47
    Marker Score: 296
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.47
    Marker Score: 442
  • Cell Name: natural T-regulatory cell (CL0000903)
    Fold Change: 0.46
    Marker Score: 237
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.41
    Marker Score: 332
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.41
    Marker Score: 2,699
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.38
    Marker Score: 1,651
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.38
    Marker Score: 213
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.37
    Marker Score: 246
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 0.37
    Marker Score: 316
  • Cell Name: alpha-beta T cell (CL0000789)
    Fold Change: 0.36
    Marker Score: 275
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.36
    Marker Score: 135
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.36
    Marker Score: 4,746
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 0.36
    Marker Score: 118
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 0.36
    Marker Score: 212
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.36
    Marker Score: 259
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.35
    Marker Score: 85,898
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.35
    Marker Score: 352
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: 0.35
    Marker Score: 267
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.34
    Marker Score: 425
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.34
    Marker Score: 302
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.34
    Marker Score: 105
  • Cell Name: NKp44-positive group 3 innate lymphoid cell, human (CL0001079)
    Fold Change: 0.33
    Marker Score: 75
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.33
    Marker Score: 3,323
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.32
    Marker Score: 147
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.32
    Marker Score: 307

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** APOA1 is a small, hydrophobic protein that is synthesized by various cell types, including hepatocytes, endothelial cells, and immune cells. Its structure consists of two alpha-helical domains, which are essential for its binding to lipid surfaces and interacting with other proteins. APOA1 is highly expressed in the liver, where it plays a critical role in cholesterol homeostasis. Its expression is also elevated in response to inflammatory stimuli, underscoring its potential anti-inflammatory functions. **Pathways and Functions:** APOA1 is involved in several key pathways that regulate lipid metabolism, immune responses, and cellular signaling. These include: 1. **Cholesterol efflux**: APOA1 facilitates the efflux of cholesterol from peripheral tissues to the liver, where it is excreted into bile. 2. **Anti-inflammatory responses**: APOA1 modulates the activity of various immune cells, including macrophages and T cells, and inhibits the production of pro-inflammatory cytokines. 3. **Lipid metabolism**: APOA1 regulates the metabolism of lipids by interacting with other proteins, such as apolipoprotein C-III and lipoprotein lipase. 4. **Cellular signaling**: APOA1 interacts with various signaling molecules, including G-proteins and phospholipid-binding proteins, to regulate cellular responses to stimuli. **Clinical Significance:** APOA1 plays a critical role in maintaining human health by regulating lipid metabolism and immune responses. Dysregulation of APOA1 has been implicated in various diseases, including: 1. **Atherosclerosis**: Reduced APOA1 levels have been associated with increased risk of atherosclerotic cardiovascular disease. 2. **Hyperlipidemia**: Elevated APOA1 levels have been linked to improved lipid profiles and reduced risk of cardiovascular disease. 3. **Inflammatory disorders**: APOA1 has been shown to modulate inflammatory responses, making it a potential therapeutic target for treating inflammatory diseases. 4. **Cancer**: APOA1 has been implicated in the regulation of lipid metabolism and immune responses in cancer, suggesting its potential as a therapeutic target for cancer treatment. In conclusion, APOA1 is a multifunctional protein that plays a vital role in regulating lipid metabolism and immune responses. Its dysregulation has been implicated in various diseases, highlighting the need for further research into its mechanisms of action and potential therapeutic applications.

Genular Protein ID: 3505038240

Symbol: APOA1_HUMAN

Name: Apolipoprotein A1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 6406984

Title: Gene structure of human apolipoprotein A1.

PubMed ID: 6406984

DOI: 10.1093/nar/11.9.2827

PubMed ID: 6304641

Title: Nucleotide sequence of cloned cDNA of human apolipoprotein A-I.

PubMed ID: 6304641

DOI: 10.1093/nar/11.11.3703

PubMed ID: 6413973

Title: Isolation and characterization of the human apolipoprotein A-I gene.

PubMed ID: 6413973

DOI: 10.1073/pnas.80.20.6147

PubMed ID: 6207999

Title: 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.

PubMed ID: 6207999

DOI: 10.1089/dna.1.1984.3.309

PubMed ID: 6328445

Title: Human apolipoproteins AI, AII, CII and CIII. cDNA sequences and mRNA abundance.

PubMed ID: 6328445

DOI: 10.1093/nar/12.9.3917

PubMed ID: 6198645

Title: Nucleotide sequence and the encoded amino acids of human apolipoprotein A-I mRNA.

PubMed ID: 6198645

DOI: 10.1073/pnas.81.1.66

PubMed ID: 2995392

Title: Tangier disease. The complete mRNA sequence encoding for preproapo-A-I.

PubMed ID: 2995392

DOI: 10.1016/s0021-9258(17)38949-4

PubMed ID: 3129297

Title: Sequence and expression of Tangier apoA-I gene.

PubMed ID: 3129297

DOI: 10.1111/j.1432-1033.1988.tb14022.x

PubMed ID: 2673706

Title: Production of human recombinant proapolipoprotein A-I in Escherichia coli: purification and biochemical characterization.

PubMed ID: 2673706

DOI: 10.1089/dna.1.1989.8.429

PubMed ID: 15108119

Title: The effects of scale: variation in the APOA1/C3/A4/A5 gene cluster.

PubMed ID: 15108119

DOI: 10.1007/s00439-004-1106-x

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 6409108

Title: Human plasma proapoA-I: isolation and amino-terminal sequence.

PubMed ID: 6409108

DOI: 10.1016/0006-291x(83)91772-2

PubMed ID: 164450

Title: 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.

PubMed ID: 164450

DOI: 10.1016/s0021-9258(19)41662-1

PubMed ID: 204308

Title: The amino acid sequence of human APOA-I, an apolipoprotein isolated from high density lipoproteins.

PubMed ID: 204308

DOI: 10.1016/0006-291x(78)91614-5

PubMed ID: 3047170

Title: Serum prostacyclin stabilizing factor is identical to apolipoprotein A-I (Apo A-I). A novel function of Apo A-I.

PubMed ID: 3047170

DOI: 10.1172/jci113682

PubMed ID: 1909888

Title: Identification of apolipoprotein A1 and immunoglobulin as components of a serum complex that mediates activation of human sperm motility.

PubMed ID: 1909888

DOI: 10.1021/bi00101a011

PubMed ID: 2506184

Title: Apolipoprotein A-I binds to a family of bovine seminal plasma proteins.

PubMed ID: 2506184

DOI: 10.1016/s0021-9258(19)84784-1

PubMed ID: 3120314

Title: Similarity of cruzin, an inhibitor of Trypanosoma cruzi neuraminidase, to high-density lipoprotein.

PubMed ID: 3120314

DOI: 10.1126/science.3120314

PubMed ID: 7895732

Title: The human myocardial two-dimensional gel protein database: update 1994.

PubMed ID: 7895732

DOI: 10.1002/elps.11501501209

PubMed ID: 12665801

Title: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.

PubMed ID: 12665801

DOI: 10.1038/nbt810

PubMed ID: 1742316

Title: 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.

PubMed ID: 1742316

DOI: 10.1016/0005-2760(91)90167-g

PubMed ID: 6800349

Title: Plasma apolipoprotein A-1 absence associated with a marked reduction of high density lipoproteins and premature coronary artery disease.

PubMed ID: 6800349

DOI: 10.1161/01.atv.2.1.16

PubMed ID: 6294659

Title: Isolation and characterization of cDNA clones for human apolipoprotein A-I.

PubMed ID: 6294659

DOI: 10.1073/pnas.79.22.6861

PubMed ID: 3005308

Title: Human apolipoprotein A-I. Post-translational modification by fatty acid acylation.

PubMed ID: 3005308

DOI: 10.1016/s0021-9258(17)35598-9

PubMed ID: 6405383

Title: Intracellular and extracellular processing of human apolipoprotein A-I: secreted apolipoprotein A-I isoprotein 2 is a propeptide.

PubMed ID: 6405383

DOI: 10.1073/pnas.80.9.2574

PubMed ID: 1898657

Title: A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities.

PubMed ID: 1898657

DOI: 10.1172/jci114997

PubMed ID: 8261628

Title: The preferential site of non-enzymatic glycation of human apolipoprotein A-I in vivo.

PubMed ID: 8261628

DOI: 10.1016/0009-8981(93)90165-z

PubMed ID: 11991719

Title: 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.

PubMed ID: 11991719

DOI: 10.1006/geno.2002.6761

PubMed ID: 12847263

Title: Identification of uteroglobin-related protein 1 and macrophage scavenger receptor with collagenous structure as a lung-specific ligand-receptor pair.

PubMed ID: 12847263

DOI: 10.4049/jimmunol.171.2.924

PubMed ID: 12576517

Title: Characterization of specifically oxidized apolipoproteins in mildly oxidized high density lipoprotein.

PubMed ID: 12576517

DOI: 10.1194/jlr.m200256-jlr200

PubMed ID: 12562854

Title: Novel mass spectrometric immunoassays for the rapid structural characterization of plasma apolipoproteins.

PubMed ID: 12562854

DOI: 10.1194/jlr.d200034-jlr200

PubMed ID: 15922294

Title: NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24.

PubMed ID: 15922294

DOI: 10.1016/j.bbrc.2005.05.050

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23719382

Title: Control of angiogenesis by AIBP-mediated cholesterol efflux.

PubMed ID: 23719382

DOI: 10.1038/nature12166

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 24755625

Title: Secondary structure changes in ApoA-I Milano (R173C) are not accompanied by a decrease in protein stability or solubility.

PubMed ID: 24755625

DOI: 10.1371/journal.pone.0096150

PubMed ID: 8664326

Title: 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.

PubMed ID: 8664326

DOI: 10.1016/0005-2760(96)00037-9

PubMed ID: 9356442

Title: Crystal structure of truncated human apolipoprotein A-I suggests a lipid-bound conformation.

PubMed ID: 9356442

DOI: 10.1073/pnas.94.23.12291

PubMed ID: 8240372

Title: Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene.

PubMed ID: 8240372

DOI: 10.1006/bbrc.1993.2341

PubMed ID: 8282791

Title: Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia.

PubMed ID: 8282791

DOI: 10.1172/jci116949

PubMed ID: 6401735

Title: Apolipoprotein A-IMilano. Detection of normal A-I in affected subjects and evidence for a cysteine for arginine substitution in the variant A-I.

PubMed ID: 6401735

DOI: 10.1016/s0021-9258(18)32955-7

PubMed ID: 6412234

Title: Tangier disease: defective recombination of a specific Tangier apolipoprotein A-I isoform (pro-apo A-I) with high density lipoproteins.

PubMed ID: 6412234

DOI: 10.1073/pnas.80.19.6081

PubMed ID: 6489332

Title: Apolipoprotein A-IGiessen (Pro143-->Arg). A mutant that is defective in activating lecithin:cholesterol acyltransferase.

PubMed ID: 6489332

DOI: 10.1111/j.1432-1033.1984.tb08467.x

PubMed ID: 6432779

Title: Abnormal lecithin:cholesterol acyltransferase activation by a human apolipoprotein A-I variant in which a single lysine residue is deleted.

PubMed ID: 6432779

DOI: 10.1016/s0021-9258(18)90928-2

PubMed ID: 3142462

Title: Variant apolipoprotein AI as a major constituent of a human hereditary amyloid.

PubMed ID: 3142462

DOI: 10.1016/s0006-291x(88)80909-4

PubMed ID: 2123470

Title: A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy.

PubMed ID: 2123470

DOI: 10.1016/0888-7543(90)90288-6

PubMed ID: 2107878

Title: Isolation and characterization of human apolipoprotein A-I Fukuoka (110 Glu-->Lys). A novel apolipoprotein variant.

PubMed ID: 2107878

DOI: 10.1016/0005-2760(90)90292-6

PubMed ID: 1502149

Title: Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis.

PubMed ID: 1502149

DOI: 10.1073/pnas.89.16.7389

PubMed ID: 2108924

Title: Apolipoprotein A1 Baltimore (Arg-10-->Leu), a new ApoA1 variant.

PubMed ID: 2108924

DOI: 10.1007/bf00195816

PubMed ID: 2512329

Title: Apolipoprotein A-I variants. Naturally occurring substitutions of proline residues affect plasma concentration of apolipoprotein A-I.

PubMed ID: 2512329

DOI: 10.1172/jci114355

PubMed ID: 2111322

Title: Structural analysis of human apolipoprotein A-I variants. Amino acid substitutions are nonrandomly distributed throughout the apolipoprotein A-I primary structure.

PubMed ID: 2111322

DOI: 10.1016/s0021-9258(19)38931-8

PubMed ID: 1901417

Title: Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene.

PubMed ID: 1901417

DOI: 10.1073/pnas.88.7.2793

PubMed ID: 7981179

Title: A nonsense mutation in the apolipoprotein A-I gene is associated with high-density lipoprotein deficiency and periorbital xanthelasmas.

PubMed ID: 7981179

DOI: 10.1161/01.atv.14.12.1915

PubMed ID: 7918609

Title: Characterization of two new human apolipoprotein A-I variants: apolipoprotein A-I Tsushima (Trp-108-->Arg) and A-I Hita (Ala-95-->Asp).

PubMed ID: 7918609

PubMed ID: 8208902

Title: Familial nephropathic systemic amyloidosis caused by apolipoprotein AI variant Arg26.

PubMed ID: 8208902

PubMed ID: 10487826

Title: The new apolipoprotein A-I variant leu(174) --> Ser causes hereditary cardiac amyloidosis, and the amyloid fibrils are constituted by the 93-residue N-terminal polypeptide.

PubMed ID: 10487826

DOI: 10.1016/s0002-9440(10)65167-x

PubMed ID: 9514407

Title: A novel homozygous missense mutation in the apo A-I gene with apo A-I deficiency.

PubMed ID: 9514407

DOI: 10.1161/01.atv.18.3.389

PubMed ID: 10198255

Title: A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis.

PubMed ID: 10198255

DOI: 10.1006/bbrc.1999.0518

PubMed ID: 12050338

Title: Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.

PubMed ID: 12050338

DOI: 10.1056/nejmoa013354

PubMed ID: 12966036

Title: Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors.

PubMed ID: 12966036

DOI: 10.1093/hmg/ddg314

PubMed ID: 22028381

Title: Quantitative detection of single amino acid polymorphisms by targeted proteomics.

PubMed ID: 22028381

DOI: 10.1093/jmcb/mjr024

PubMed ID: 26073399

Title: Case report: A novel apolipoprotein A-I missense mutation apoA-I (Arg149Ser)Boston associated with decreased lecithin-cholesterol acyltransferase activation and cellular cholesterol efflux.

PubMed ID: 26073399

DOI: 10.1016/j.jacl.2015.02.005

Sequence Information:

  • Length: 267
  • Mass: 30778
  • Checksum: 1A28B8366E620310
  • Sequence:
  • MKAAVLTLAV LFLTGSQARH FWQQDEPPQS PWDRVKDLAT VYVDVLKDSG RDYVSQFEGS 
    ALGKQLNLKL LDNWDSVTST FSKLREQLGP VTQEFWDNLE KETEGLRQEM SKDLEEVKAK 
    VQPYLDDFQK KWQEEMELYR QKVEPLRAEL QEGARQKLHE LQEKLSPLGE EMRDRARAHV 
    DALRTHLAPY SDELRQRLAA RLEALKENGG ARLAEYHAKA TEHLSTLSEK AKPALEDLRQ 
    GLLPVLESFK VSFLSALEEY TKKLNTQ

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.