Details for: APOA1

Gene ID: 335

Symbol: APOA1

Ensembl ID: ENSG00000118137

Description: apolipoprotein A1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 14.09
    Marker Score: 46176
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 5.53
    Marker Score: 9394
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 3.99
    Marker Score: 21470
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 3.86
    Marker Score: 22917.5
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 3.51
    Marker Score: 2189
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 2.84
    Marker Score: 1058
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 2.74
    Marker Score: 2930
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 2.68
    Marker Score: 4129
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 2.45
    Marker Score: 10565
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 2.26
    Marker Score: 14519
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 2.21
    Marker Score: 39291
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 2.05
    Marker Score: 9830
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 2.05
    Marker Score: 2205
  • 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: 1983
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.7
    Marker Score: 3517.5
  • 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: 169341
  • 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: 1359
  • 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: 1179
  • 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: 71807
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48031
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • 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: 1014
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.95
    Marker Score: 1535
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5315
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2734
  • 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: 5296
  • 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: 580.5
  • 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: 3085
  • 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: 1663
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.7
    Marker Score: 1639
  • 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: 1125
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.57
    Marker Score: 8994
  • 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: 3403
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.51
    Marker Score: 215
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.51
    Marker Score: 1610
  • 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: 1184
  • 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: 2699
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.38
    Marker Score: 1651
  • 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: 4746
  • 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: 85898
  • 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: 424.5
  • 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: 3323
  • 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

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Other Information

**Key characteristics:** * APOA1 is a glycoprotein with a molecular weight of approximately 120 kDa. * It is expressed in high levels in the liver and other tissues with high metabolic activity. * APOA1 is a key regulator of hepatic lipid metabolism and cholesterol homeostasis. * It is involved in the regulation of insulin-like growth factor (igf) transport and uptake by insulin-like growth factor binding proteins (igfbps). * APOA1 is also involved in the regulation of platelet activation and signaling. **Pathways and functions:** * APOA1 is involved in the Abc-family proteins mediated transport pathway, which is responsible for the transport of proteins and lipids between cells. * It is also involved in the Amyloid fiber formation pathway, which is responsible for the assembly of amyloid plaques in the brain. * APOA1 is a key regulator of cellular responses to stimuli and stress. * It is involved in the Cellular responses to stress pathway, which is responsible for the response of cells to harmful stimuli. * APOA1 is also involved in the Disease, Disorders of transmembrane transporters pathway, which is responsible for the transport of proteins between cells. * It is involved in the Hemostasis pathway, which is responsible for the regulation of blood clotting. * APOA1 is involved in the Metabolism of lipids, proteins, vitamins, and cofactors. * It is involved in the Plasma lipoprotein assembly, remodeling, and clearance pathway, which is responsible for the assembly, remodeling, and clearance of plasma lipoproteins. * APOA1 is involved in Platelet activation, signaling and aggregation. **Clinical significance:** * Mutations in the APOA1 gene have been linked to several liver diseases, including familial hyperalphalipoproteinemia, which is characterized by high levels of APOA1 in the blood. * APOA1 is a potential therapeutic target for liver diseases, as it can be used to lower cholesterol levels and improve liver function.

Genular Protein ID: 3505038240

Symbol: APOA1_HUMAN

Name: Apolipoprotein A1

UniProtKB Accession Codes:

P02647 A8K866 Q6LDN9 Q6Q785 Q9UCS8 Q9UCT8

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CPTAC 2 CTD 1 CarbonylDB 1 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DOSAC-COBS-2DPAGE 1 DisGeNET 1 DrugBank 7 EMBL 20 EMDB 3 EPD 1 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 80 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OGP 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 30 PDBsum 26 PIR 1 PRIDE 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 REPRODUCTION-2DPAGE 2 RNAct 1 Reactome 17 RefSeq 4 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SWISS-2DPAGE 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCD-2DPAGE 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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. For the full schema, download it here.