APOA1
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Summary
APOA1 (apolipoprotein A1, HGNC:600) is a protein-coding gene on chromosome 11q23.3, encoding Apolipoprotein A-I (P02647). Participates 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).
This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein.
Source: NCBI Gene 335 — RefSeq curated summary.
At a glance
- Gene–disease (curated): familial visceral amyloidosis (Strong, GenCC) — +4 more curated relationships
- GWAS associations: 63
- Clinical variants (ClinVar): 374 total — 28 pathogenic, 3 likely-pathogenic
- Phenotypes (HPO): 42
- Druggable target: yes
- MANE Select transcript:
NM_000039
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:600 |
| Approved symbol | APOA1 |
| Name | apolipoprotein A1 |
| Location | 11q23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000118137 |
| Ensembl biotype | protein_coding |
| OMIM | 107680 |
| Entrez | 335 |
Gene structure
Transcript identifiers
Ensembl transcripts: 30 — 30 protein_coding
ENST00000236850, ENST00000359492, ENST00000375320, ENST00000375323, ENST00000375329, ENST00000855297, ENST00000855298, ENST00000855299, ENST00000855300, ENST00000855301, ENST00000855302, ENST00000855303, ENST00000855304, ENST00000855305, ENST00000855306, ENST00000855307, ENST00000855308, ENST00000855309, ENST00000855310, ENST00000855311, ENST00000855312, ENST00000855313, ENST00000855314, ENST00000855315, ENST00000855316, ENST00000855317, ENST00000855318, ENST00000855319, ENST00000855320, ENST00000855321
RefSeq mRNA: 8 — MANE Select: NM_000039
NM_000039, NM_001318017, NM_001318018, NM_001318021, NM_001425090, NM_001425091, NM_001425092, NM_001425093
CCDS: CCDS8378
Canonical transcript exons
ENST00000236850 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000795784 | 116837001 | 116837157 |
| ENSE00001255955 | 116837605 | 116837622 |
| ENSE00001255973 | 116837345 | 116837407 |
| ENSE00001411471 | 116835751 | 116836411 |
Expression profiles
Bgee: expression breadth ubiquitous, 170 present calls, max score 99.99.
FANTOM5 (CAGE): breadth broad, TPM avg 7.5322 / max 1615.9132, expressed in 183 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 122453 | 4.8021 | 160 |
| 122454 | 1.8600 | 130 |
| 122451 | 0.7166 | 74 |
| 122452 | 0.1535 | 38 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| jejunal mucosa | UBERON:0000399 | 99.99 | gold quality |
| right lobe of liver | UBERON:0001114 | 99.95 | gold quality |
| liver | UBERON:0002107 | 99.91 | gold quality |
| ileal mucosa | UBERON:0000331 | 99.69 | gold quality |
| right testis | UBERON:0004534 | 99.53 | gold quality |
| left testis | UBERON:0004533 | 99.52 | gold quality |
| testis | UBERON:0000473 | 98.41 | gold quality |
| adrenal tissue | UBERON:0018303 | 98.40 | gold quality |
| duodenum | UBERON:0002114 | 96.22 | gold quality |
| apex of heart | UBERON:0002098 | 95.45 | gold quality |
| adult organism | UBERON:0007023 | 95.22 | gold quality |
| small intestine | UBERON:0002108 | 90.90 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 90.65 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.14 | gold quality |
| heart left ventricle | UBERON:0002084 | 89.15 | gold quality |
| cardiac ventricle | UBERON:0002082 | 88.68 | gold quality |
| amniotic fluid | UBERON:0000173 | 86.15 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.33 | gold quality |
| heart | UBERON:0000948 | 82.95 | gold quality |
| right atrium auricular region | UBERON:0006631 | 82.69 | gold quality |
| left ovary | UBERON:0002119 | 81.93 | gold quality |
| heart right ventricle | UBERON:0002080 | 80.82 | silver quality |
| right ovary | UBERON:0002118 | 80.43 | gold quality |
| cardiac atrium | UBERON:0002081 | 80.00 | gold quality |
| ovary | UBERON:0000992 | 79.00 | gold quality |
| jejunum | UBERON:0002115 | 78.92 | gold quality |
| body of stomach | UBERON:0001161 | 78.88 | gold quality |
| tibial nerve | UBERON:0001323 | 76.80 | gold quality |
| stomach | UBERON:0000945 | 76.73 | gold quality |
| fundus of stomach | UBERON:0001160 | 75.62 | gold quality |
Single-cell (SCXA)
Detected in 20 experiment(s), a significant marker in 20.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-98 | yes | 56826.88 |
| E-MTAB-9388 | yes | 51245.46 |
| E-MTAB-7407 | yes | 33471.85 |
| E-MTAB-8221 | yes | 32203.36 |
| E-MTAB-9906 | yes | 26348.51 |
| E-GEOD-125970 | yes | 24319.02 |
| E-MTAB-10553 | yes | 22564.08 |
| E-HCAD-9 | yes | 19407.02 |
| E-MTAB-8060 | yes | 9042.71 |
| E-MTAB-10485 | yes | 7432.07 |
| E-HCAD-23 | yes | 6733.63 |
| E-GEOD-134144 | yes | 6189.38 |
| E-GEOD-124263 | yes | 4815.18 |
| E-GEOD-114530 | yes | 2985.68 |
| E-ANND-5 | yes | 910.27 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AHR, CEBPA, CEBPG, EGR1, ELK1, ELK3, ESR1, FOXA1, FOXA2, GATA1, GATA6, HNF1A, HNF4A, HR, NFKB, NFKBIA, NR1D1, NR1H3, NR1H4, NR1I3, NR2F2, NR2F6, PITX2, PPARA, PPARG, RARB, RORA, RXRA, SP1, VDR, ZGLP1, ZNF202
Literature-anchored findings (GeneRIF, showing 40)
- Apolipoprotein A-I alpha -helices 7 and 8 modulate high density lipoprotein subclass distribution (PMID:11744719)
- translocation of cholesterol and phospholipid into the cytosol is related to the apo A-I-mediated HDL assembly in astrocytes through functional association with caveolin-1 and a cyclosporin A-sensitive cyclophilin protein(s). (PMID:11773045)
- Effects of enrichment of fibroblasts with unesterified cholesterol on the efflux of cellular lipids to apolipoprotein A-I (PMID:11805090)
- significance of G—>A polymorphism in gene promoter on serum high density lipoprotein cholesterol levels in Japanese hyperlipidemic subjects (PMID:11866037)
- Polymorphisms are not associated with severe aortic valve stenosis (PMID:11903341)
- mechanism for the induction of apoA-I might include PPAR-gamma for which oxidized fatty acid is a ligand. (PMID:11907138)
- Infusion of APOA1 into fasting healthy male subjects activated FVII, increased TAT complex blood levels, and decreased HDL triglyceride blood levels. (PMID:11916081)
- Apo AI/ABCA1-dependent and HDL3-mediated lipid efflux (PMID:11929608)
- individual and combined associations of the apolipoprotein (apo) A-I -75 bp and +83 bp polymorphisms with plasma lipid, lipoprotein and apolipoprotein levels in 734 Caucasian men and women (PMID:12000358)
- APOA1 to APOB ratio is related to myocardial infarction and stroke (PMID:12011770)
- Mutations may be associated with hypertension (PMID:12030900)
- In conclusion, 12% of Hypoalphalipoproteinemia subjects were found to carry mutations in apo A-I, LCAT, or GBA genes (PMID:12048121)
- APOA1 has a varying conformational states as it adjusts from a discoidal to a spherical surface (PMID:12167653)
- Observations of the effects of four mutations in the central region of lipid-free apoA-I (residues 123-165) are consistent with the helical structure of residues 145-164 and the disordered structure of residues 123-142 in lipid-free apoA-I. (PMID:12173940)
- structure-function studies of variants (PMID:12177172)
- additive influence of mutant APOA1 and testosterone on plasma HDL-cholesterol (PMID:12270762)
- Pre-beta apoA-I is formed during cholesteryl ester transfer protein-mediated remodeling of reconstituted HDL, a process in which the phospholipid composition of the particles plays a key role. (PMID:12369845)
- apolipoprotein AI conformation required for systemic amyloidosis is described (PMID:12421824)
- apolipoproteins appear to be a class of mediators that can participate in the regulation of the activity of neutrophils (PMID:12458630)
- study of structural and functional homology between human apolipoprotein A-I and envelope proteins of human immunodeficiency virus type 1 in CD4 receptor binding (PMID:12462973)
- APOA1 has a role in regulating ABCA1 expression in macrophages (PMID:12511593)
- Degradation of phospholipid transfer protein (PLTP) and PLTP-generated protein by mast cell chymase impairs high affinity efflux of cholesterol from macrophage foam cells. (PMID:12531890)
- comparison of 5 natural point mutations illustrates that a specific sequence between amino acids 110 and 162 is required for LCAT activation (PMID:12573451)
- Results show that during the early stages, oxidation of HDL gives rise to specifically oxidized forms of apolipoproteins A-I and A-II. (PMID:12576517)
- REVIEW: an update on the experimental studies in which apolipoprotein A-I(Milano), produced as a recombinant protein, has displayed important effects in the treatment of vascular diseases (PMID:12642784)
- Apolipoprotein A-II inhibits high density lipoprotein remodeling and lipid-poor formation of this protein (PMID:12690114)
- Hepatitis B virus (HBV) reduced steady-state levels of apolipoprotein AI mRNAs in two hepatoma cell lines (PMID:12692252)
- the structural organization of lipid-free apoA-I and the role of different domains in lipid binding, with comparisons to apoE (PMID:12709430)
- Individuals with this protein are at a higher risk for schizophrenia. (PMID:12722515)
- The spatial organization of apolipoprotein A-I on the edge of discoidal high density lipoprotein particles: a mass specrometry study. (PMID:12724319)
- In an LDL receptor-deficient mouse model of familial hypercholesterolemia, helper-dependent adenovirus gene transfer of human apoA-I causes long-term overexpression of apoA-I and retards atherosclerosis progression (PMID:12742997)
- EPR spectroscopy was used to examine the structure of the apoA-I C terminus in lipid-free and lipid-associated states.Spectra of apoA-I in reconstituted HDL revealed a lipid-induced transition of defined beta-strands into alpha-helices (PMID:12754494)
- APOAI had distinct inhibitory effects on the lipolysis of large and small emulsions: more effective inhibition for small emulsions. (PMID:12782148)
- HDL cholesterol levels were 4% (0.06 mmol/l) and 10% (0.15 mmol/l) higher in heterozygotes and mutation homozygotes; the equivalent values for apolipoprotein A1 were 3% and 7% higher. (PMID:12798568)
- G/A polymorphism of the apo A-I promoter region affects not only baseline HDL-C concentrations but also its response to pravastatin treatment. (PMID:12801612)
- Apo A-I mutations cannot be firmly establihed in samll number of patients with severe HDL deficiency. (PMID:12818417)
- APOA1 has a role in formation of nascent high density lipoprotein particles (PMID:12928428)
- apoA-I activates PKC alpha by PC-PLC-mediated generation of diacylglycerol initiated by the removal of cellular sphingomyelin and subsequently phosphorylates and stabilizes ABCA1 (PMID:12952980)
- the mitogen-activated protein kinase pathway is involved in the regulation of apoA-I gene expression by estrogen (PMID:14563824)
- Data support the hypothesis of increased biliary catabolism of cholesterol in subjects with gallbladder disease characterized by lower Apo B and higher Apo A-I serum concentrations. (PMID:14567398)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | apoa1a | ENSDARG00000012076 |
| danio_rerio | apoa1b | ENSDARG00000101324 |
| mus_musculus | Apoa1 | ENSMUSG00000032083 |
| rattus_norvegicus | Apoa1 | ENSRNOG00000045679 |
Paralogs (3): APOA5 (ENSG00000110243), APOA4 (ENSG00000110244), APOE (ENSG00000130203)
Protein
Protein identifiers
Apolipoprotein A-I — P02647 (reviewed: P02647)
Alternative names: Apolipoprotein A1
All UniProt accessions (3): P02647, A0A024R3E3, F8W696
UniProt curated annotations — full annotation on UniProt →
Function. Participates 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.
Subunit / interactions. Homodimer. Interacts with NAXE and CLU. Component of a sperm activating protein complex (SPAP), consisting of APOA1, an immunoglobulin heavy chain, an immunoglobulin light chain and albumin. Interacts with NDRG1. Interacts with SCGB3A2. Interacts with NAXE and YJEFN3.
Subcellular location. Secreted.
Tissue specificity. Major protein of plasma HDL, also found in chylomicrons. Synthesized in the liver and small intestine. The oxidized form at Met-110 and Met-136 is increased in individuals with increased risk for coronary artery disease, such as in carrier of the eNOSa/b genotype and exposure to cigarette smoking. It is also present in increased levels in aortic lesions relative to native ApoA-I and increased levels are seen with increasing severity of disease.
Post-translational modifications. Glycosylated. Palmitoylated. Phosphorylation sites are present in the extracellular medium.
Disease relevance. Hypoalphalipoproteinemia, primary, 2 (FHA2) [MIM:618463] An autosomal recessive disorder of lipoprotein metabolism, biochemically characterized by severe apoA-I deficiency and severely reduced serum high-density lipoprotein cholesterol (HDL-C). Affected individuals have undetectable serum levels of apoA-I, and develop xanthomas and corneal opacities. The disease is generally associated with atherosclerosis and markedly increased cardiovascular risk. The disease is caused by variants affecting the gene represented in this entry. Hypoalphalipoproteinemia, primary, 2, intermediate (FHA2I) [MIM:619836] An autosomal dominant disorder of lipoprotein metabolism, biochemically characterized by partial apoA-I deficiency and reduced serum high-density lipoprotein cholesterol (HDL-C). Affected individuals have half the normal plasma apoA-I and HDL-C levels, and may develop xanthomas and corneal opacities. Most patients do not have increased cardiovascular risk. The disease is caused by variants affecting the gene represented in this entry. Familial apolipoprotein gene cluster deletion syndrome (FAPLDS) [MIM:620058] An autosomal dominant disorder of lipoprotein metabolism. Affected individuals do not produce ApoA-I, ApoC-III and ApoA-IV lipoproteins, have marked plasma high density lipoprotein (HDL) deficiency, and manifest premature atherosclerosis and coronary artery disease. The gene represented in this entry is involved in disease pathogenesis. Amyloidosis, hereditary systemic 3 (AMYLD3) [MIM:620657] A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD3 clinical features include amyloid neuropathy, nephropathy, hepatopathy, and cardiomyopathy. Inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.
Polymorphism. Genetic variations in APOA1 can result in APOA1 deficiency and are associated with low levels of HDL cholesterol [MIM:107680].
Similarity. Belongs to the apolipoprotein A1/A4/E family.
RefSeq proteins (8): NP_000030, NP_001304946, NP_001304947, NP_001304950, NP_001412019, NP_001412020, NP_001412021, NP_001412022 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000074 | ApoA_E | Family |
| IPR050163 | Apolipoprotein_A1/A4/E | Family |
Pfam: PF01442
UniProt features (61 total): sequence variant 33, repeat 10, helix 7, chain 3, modified residue 2, turn 2, signal peptide 1, region of interest 1, glycosylation site 1, sequence conflict 1
Structure
Experimental structures (PDB)
31 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7KJR | ELECTRON MICROSCOPY | 2.08 |
| 9PVY | ELECTRON MICROSCOPY | 2.15 |
| 3R2P | X-RAY DIFFRACTION | 2.2 |
| 9PVZ | ELECTRON MICROSCOPY | 2.3 |
| 8VXJ | X-RAY DIFFRACTION | 2.7 |
| 9PW3 | ELECTRON MICROSCOPY | 2.73 |
| 8EQS | ELECTRON MICROSCOPY | 3.1 |
| 1AV1 | X-RAY DIFFRACTION | 4 |
| 4V6M | ELECTRON MICROSCOPY | 7.1 |
| 9MXZ | ELECTRON MICROSCOPY | 9.8 |
| 1GW3 | SOLUTION NMR | |
| 1GW4 | SOLUTION NMR | |
| 1ODP | SOLUTION NMR | |
| 1ODQ | SOLUTION NMR | |
| 1ODR | SOLUTION NMR | |
| 2MSC | SOLUTION NMR | |
| 2MSD | SOLUTION NMR | |
| 2MSE | SOLUTION NMR | |
| 2N5E | SOLUTION NMR | |
| 3K2S | SOLUTION SCATTERING | |
| 6CC9 | SOLUTION NMR | |
| 6CCH | SOLUTION NMR | |
| 6CCX | SOLUTION NMR | |
| 6CLZ | SOLUTION NMR | |
| 6CM1 | SOLUTION NMR | |
| 6PTS | SOLUTION NMR | |
| 6PTW | SOLUTION NMR | |
| 6W4E | SOLUTION NMR | |
| 6W4F | SOLUTION NMR | |
| 7RSC | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P02647-F1 | 73.66 | 0.02 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (2): 110, 136
Glycosylation sites (1): 263
Function
Pathways and Gene Ontology
Reactome pathways
45 pathways
| ID | Pathway |
|---|---|
| R-HSA-114608 | Platelet degranulation |
| R-HSA-1369062 | ABC transporters in lipid homeostasis |
| R-HSA-1989781 | PPARA activates gene expression |
| R-HSA-2168880 | Scavenging of heme from plasma |
| R-HSA-3000471 | Scavenging by Class B Receptors |
| R-HSA-3000480 | Scavenging by Class A Receptors |
| R-HSA-381426 | Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) |
| R-HSA-5682113 | Defective ABCA1 causes TGD |
| R-HSA-8957275 | Post-translational protein phosphorylation |
| R-HSA-8963888 | Chylomicron assembly |
| R-HSA-8963896 | HDL assembly |
| R-HSA-8963901 | Chylomicron remodeling |
| R-HSA-8964011 | HDL clearance |
| R-HSA-8964058 | HDL remodeling |
| R-HSA-9707616 | Heme signaling |
| R-HSA-975634 | Retinoid metabolism and transport |
| R-HSA-977225 | Amyloid fiber formation |
| R-HSA-9918432 | Maturation of DENV proteins |
| R-HSA-9918481 | Dengue Virus-Host Interactions |
| R-HSA-9920588 | Dengue virus activates/modulates innate and adaptive immune responses |
| R-HSA-109582 | Hemostasis |
| R-HSA-1430728 | Metabolism |
| R-HSA-1643685 | Disease |
| R-HSA-174824 | Plasma lipoprotein assembly, remodeling, and clearance |
| R-HSA-196854 | Metabolism of vitamins and cofactors |
| R-HSA-2173782 | Binding and Uptake of Ligands by Scavenger Receptors |
| R-HSA-2187338 | Visual phototransduction |
| R-HSA-2262752 | Cellular responses to stress |
| R-HSA-382551 | Transport of small molecules |
| R-HSA-382556 | ABC-family protein mediated transport |
MSigDB gene sets: 502 (showing top):
GOBP_CELLULAR_RESPONSE_TO_LIPOPROTEIN_PARTICLE_STIMULUS, GOBP_ACYLGLYCEROL_HOMEOSTASIS, GOBP_DIGESTION, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLCHOLINE_METABOLIC_PROCESS, GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_ENDOCYTOSIS, GOBP_NEGATIVE_REGULATION_OF_INTERLEUKIN_1_PRODUCTION, PID_HNF3B_PATHWAY, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, GOBP_STEROL_HOMEOSTASIS, GOBP_LIPOPROTEIN_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLCHOLINE_BIOSYNTHETIC_PROCESS, GNF2_GSTM1
GO Biological Process (53): endothelial cell proliferation (GO:0001935), negative regulation of cytokine production involved in immune response (GO:0002719), phosphatidylcholine biosynthetic process (GO:0006656), cholesterol biosynthetic process (GO:0006695), G protein-coupled receptor signaling pathway (GO:0007186), integrin-mediated signaling pathway (GO:0007229), cholesterol metabolic process (GO:0008203), glucocorticoid metabolic process (GO:0008211), negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804), positive regulation of cholesterol efflux (GO:0010875), negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903), protein oxidation (GO:0018158), peptidyl-methionine modification (GO:0018206), lipid storage (GO:0019915), regulation of intestinal cholesterol absorption (GO:0030300), cholesterol transport (GO:0030301), adrenal gland development (GO:0030325), regulation of Cdc42 protein signal transduction (GO:0032489), negative regulation of interleukin-1 beta production (GO:0032691), cholesterol efflux (GO:0033344), phospholipid efflux (GO:0033700), negative regulation of heterotypic cell-cell adhesion (GO:0034115), amyloid-beta formation (GO:0034205), high-density lipoprotein particle remodeling (GO:0034375), high-density lipoprotein particle assembly (GO:0034380), high-density lipoprotein particle clearance (GO:0034384), positive regulation of Rho protein signal transduction (GO:0035025), lipoprotein biosynthetic process (GO:0042158), cholesterol homeostasis (GO:0042632), blood vessel endothelial cell migration (GO:0043534), reverse cholesterol transport (GO:0043691), negative regulation of inflammatory response (GO:0050728), positive regulation of phagocytosis (GO:0050766), protein stabilization (GO:0050821), negative chemotaxis (GO:0050919), vitamin transport (GO:0051180), positive regulation of stress fiber assembly (GO:0051496), acylglycerol homeostasis (GO:0055090), phospholipid homeostasis (GO:0055091), negative regulation of cell adhesion molecule production (GO:0060354)
GO Molecular Function (20): amyloid-beta binding (GO:0001540), signaling receptor binding (GO:0005102), phospholipid binding (GO:0005543), high-density lipoprotein particle binding (GO:0008035), cholesterol binding (GO:0015485), enzyme binding (GO:0019899), heat shock protein binding (GO:0031072), apolipoprotein receptor binding (GO:0034190), apolipoprotein A-I receptor binding (GO:0034191), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), chemorepellent activity (GO:0045499), receptor ligand activity (GO:0048018), phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228), high-density lipoprotein particle receptor binding (GO:0070653), cholesterol transfer activity (GO:0120020), lipid carrier activity (GO:0005319), protein binding (GO:0005515), lipid binding (GO:0008289), lipoprotein particle binding (GO:0071813)
GO Cellular Component (18): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), early endosome (GO:0005769), endoplasmic reticulum lumen (GO:0005788), cytosol (GO:0005829), plasma membrane (GO:0005886), endocytic vesicle (GO:0030139), cytoplasmic vesicle (GO:0031410), very-low-density lipoprotein particle (GO:0034361), low-density lipoprotein particle (GO:0034362), high-density lipoprotein particle (GO:0034364), spherical high-density lipoprotein particle (GO:0034366), secretory granule lumen (GO:0034774), chylomicron (GO:0042627), extracellular exosome (GO:0070062), endocytic vesicle lumen (GO:0071682), blood microparticle (GO:0072562), extracellular vesicle (GO:1903561)
Reactome top-level categories
Rollup of top-16 pathways:
| Category | Pathways |
|---|---|
| Binding and Uptake of Ligands by Scavenger Receptors | 3 |
| Metabolism of proteins | 2 |
| Plasma lipoprotein assembly | 2 |
| Plasma lipoprotein remodeling | 2 |
| Response to elevated platelet cytosolic Ca2+ | 1 |
| ABC-family protein mediated transport | 1 |
| Regulation of lipid metabolism by PPARalpha | 1 |
| ABC transporter disorders | 1 |
| Post-translational protein modification | 1 |
| Plasma lipoprotein clearance | 1 |
| Cellular responses to stress | 1 |
| Visual phototransduction | 1 |
| Metabolism of fat-soluble vitamins | 1 |
| Dengue Virus Genome Translation and Replication | 1 |
| Dengue Virus Infection | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein binding | 4 |
| cellular anatomical structure | 3 |
| plasma lipoprotein particle | 3 |
| signal transduction | 2 |
| signaling receptor binding | 2 |
| binding | 2 |
| intracellular organelle lumen | 2 |
| cytoplasm | 2 |
| extracellular region | 2 |
| epithelial cell proliferation | 1 |
| negative regulation of cytokine production | 1 |
| cytokine production involved in immune response | 1 |
| negative regulation of production of molecular mediator of immune response | 1 |
| regulation of cytokine production involved in immune response | 1 |
| phosphatidylcholine metabolic process | 1 |
| glycerophospholipid biosynthetic process | 1 |
| cholesterol metabolic process | 1 |
| sterol biosynthetic process | 1 |
| secondary alcohol biosynthetic process | 1 |
| G protein-coupled receptor activity | 1 |
| cell surface receptor signaling pathway | 1 |
| sterol metabolic process | 1 |
| secondary alcohol metabolic process | 1 |
| steroid metabolic process | 1 |
| negative regulation of cytokine-mediated signaling pathway | 1 |
| regulation of tumor necrosis factor-mediated signaling pathway | 1 |
| tumor necrosis factor-mediated signaling pathway | 1 |
| regulation of cholesterol efflux | 1 |
| positive regulation of cholesterol transport | 1 |
| cholesterol efflux | 1 |
| regulation of very-low-density lipoprotein particle remodeling | 1 |
| very-low-density lipoprotein particle remodeling | 1 |
| negative regulation of cellular component organization | 1 |
| negative regulation of multicellular organismal process | 1 |
| protein modification process | 1 |
| peptidyl-amino acid modification | 1 |
| nutrient storage | 1 |
| intestinal cholesterol absorption | 1 |
| regulation of intestinal lipid absorption | 1 |
| sterol transport | 1 |
Protein interactions and networks
STRING
3172 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| APOA1 | APOB | P04114 | 999 |
| APOA1 | ABCA1 | O95477 | 999 |
| APOA1 | APOE | P02649 | 999 |
| APOA1 | APOA2 | P02652 | 999 |
| APOA1 | APOC3 | P02656 | 998 |
| APOA1 | SCARB1 | Q8WTV0 | 998 |
| APOA1 | LCAT | P04180 | 997 |
| APOA1 | ABCG1 | P45844 | 997 |
| APOA1 | PON1 | P27169 | 996 |
| APOA1 | HP | P00737 | 996 |
| APOA1 | A2M | P01023 | 994 |
| APOA1 | ALB | P02768 | 994 |
| APOA1 | CLU | P10909 | 994 |
| APOA1 | APOL1 | O14791 | 993 |
| APOA1 | HPR | P00739 | 992 |
| APOA1 | APOC1 | P02654 | 992 |
IntAct
184 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| APOA1 | APOA1 | psi-mi:“MI:0407”(direct interaction) | 0.970 |
| APOA1 | APOA1 | psi-mi:“MI:0915”(physical association) | 0.970 |
| MAPK6 | HERC2 | psi-mi:“MI:0914”(association) | 0.840 |
BioGRID (252): APOA1 (Reconstituted Complex), CMTM5 (Two-hybrid), APOA1 (Affinity Capture-MS), APOA1 (Affinity Capture-MS), APOA1 (Affinity Capture-MS), APOA1 (Affinity Capture-MS), PDE1A (Two-hybrid), APOA1 (Reconstituted Complex), APOA1 (Affinity Capture-MS), APOA1 (Affinity Capture-MS), FGA (Co-localization), APOA1 (Two-hybrid), APOA1 (Affinity Capture-MS), APOA1 (Reconstituted Complex), APOA1 (Protein-peptide)
ESM2 similar proteins: A0A1S3EL69, A0A2K5EJU6, A0A2K5QCI5, A0A2K6TRM6, A0A2Y9HRR8, D2HC77, D7PGV9, F7FQM7, F7HUS6, G3QY98, G5BQH5, H0VVW3, I3M072, M3XYN3, O18759, P02647, P02648, P04639, P08250, P09809, P0DJG0, P0DJG1, P0DM91, P0DMA6, P0DMA8, P0DMA9, P0DMB0, P0DMC0, P0DMC1, P0DMS2, P0DMS3, P0DMS4, P0DMS5, P0DMS6, P0DP49, P0DTQ9, P0DTR0, P0DTU5, P0DTU6, P0DTU8
Diamond homologs: A0A1S3EL69, A0A2K5EJU6, A0A2K5QCI5, A0A2K6TRM6, A0A2Y9HRR8, D2HC77, D7PGV9, F7FQM7, F7HUS6, G3QY98, G5BQH5, H0VVW3, I3M072, M3XYN3, O18759, O42296, P02647, P02648, P04639, P08250, P09809, P0DJG0, P0DJG1, P0DM91, P0DM92, P0DMA6, P0DMA8, P0DMA9, P0DMB0, P0DMC0, P0DMC1, P0DMS2, P0DMS3, P0DMS4, P0DMS5, P0DMS6, P0DP49, P0DTQ9, P0DTR0, P0DTU5
SIGNOR signaling
12 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ABCA1 | “up-regulates activity” | APOA1 | binding |
| APOA1 | “up-regulates quantity by stabilization” | ABCA1 | binding |
| MPO | “down-regulates activity” | APOA1 | oxidation |
| APOA1 | “up-regulates activity” | LCAT | binding |
| APOA1 | up-regulates | cholesterol | |
| APOA1 | “up-regulates activity” | APOE | relocalization |
| HP | “up-regulates quantity by stabilization” | APOA1 | binding |
| JAK2 | “up-regulates activity” | APOA1 | |
| APOA1 | “up-regulates activity” | JAK2 | |
| APOA1 | up-regulates | HDL_assembly | |
| ABCA7 | “up-regulates activity” | APOA1 | binding |
| SORT1 | “up-regulates quantity” | APOA1 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 133 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) | 11 | 12.9× | 4e-07 |
| Post-translational protein phosphorylation | 9 | 12.2× | 1e-05 |
| Platelet degranulation | 7 | 8.3× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
374 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 28 |
| Likely pathogenic | 3 |
| Uncertain significance | 199 |
| Likely benign | 109 |
| Benign | 10 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1284381 | NM_000039.3(APOA1):c.605T>C (p.Leu202Pro) | Pathogenic |
| 17909 | NM_000039.3(APOA1):c.589C>T (p.Arg197Cys) | Pathogenic |
| 17911 | NM_000039.3(APOA1):c.391A>T (p.Lys131Ter) | Pathogenic |
| 17917 | NM_000039.3(APOA1):c.148G>C (p.Gly50Arg) | Pathogenic |
| 17918 | NC_000011.10:g.116830247_116836307inv | Pathogenic |
| 17921 | NM_000039.3(APOA1):c.678del (p.Leu227fs) | Pathogenic |
| 17922 | NM_000039.3(APOA1):c.322C>T (p.Gln108Ter) | Pathogenic |
| 17923 | NM_000039.3(APOA1):c.251T>G (p.Leu84Arg) | Pathogenic |
| 17924 | NM_000039.3(APOA1):c.67C>T (p.Gln23Ter) | Pathogenic |
| 17926 | NM_000039.3(APOA1):c.166C>T (p.Gln56Ter) | Pathogenic |
| 17927 | NM_000039.3(APOA1):c.250_284delinsGTCAC (p.Leu84_Phe95delinsValThr) | Pathogenic |
| 17928 | NM_000039.3(APOA1):c.220T>C (p.Trp74Arg) | Pathogenic |
| 17929 | NM_000039.3(APOA1):c.539T>A (p.Val180Glu) | Pathogenic |
| 17930 | NM_000039.3(APOA1):c.43+1G>C | Pathogenic |
| 17932 | NM_000039.3(APOA1):c.518G>C (p.Arg173Pro) | Pathogenic |
| 17933 | NM_000039.3(APOA1):c.593T>C (p.Leu198Ser) | Pathogenic |
| 17934 | NM_000039.3(APOA1):c.595G>C (p.Ala199Pro) | Pathogenic |
| 2137255 | NM_000039.3(APOA1):c.590G>C (p.Arg197Pro) | Pathogenic |
| 2137256 | NM_000039.3(APOA1):c.100C>T (p.Arg34Ter) | Pathogenic |
| 2735760 | NM_000039.3(APOA1):c.494T>G (p.Leu165Arg) | Pathogenic |
| 3236478 | NM_000039.3(APOA1):c.478G>T (p.Glu160Ter) | Pathogenic |
| 3244706 | NC_000011.9:g.(?116691583)(116708103_?)del | Pathogenic |
| 3619394 | NM_000039.3(APOA1):c.66G>A (p.Trp22Ter) | Pathogenic |
| 3767253 | NM_000039.3(APOA1):c.130G>T (p.Asp44Tyr) | Pathogenic |
| 4768101 | NM_000039.3(APOA1):c.200+1G>T | Pathogenic |
| 4812879 | NM_000039.3(APOA1):c.286T>C (p.Trp96Arg) | Pathogenic |
| 59774 | GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3 | Pathogenic |
| 7349 | NM_000039.3(APOA1):c.43+1G>T | Pathogenic |
| 1341582 | NM_000039.3(APOA1):c.542A>G (p.Asp181Gly) | Likely pathogenic |
| 1687354 | NM_000039.3(APOA1):c.364C>T (p.Gln122Ter) | Likely pathogenic |
SpliceAI
252 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:116836407:TTAGG:T | acceptor_gain | 1.0000 |
| 11:116836408:TAGG:T | acceptor_gain | 1.0000 |
| 11:116836409:AGG:A | acceptor_gain | 1.0000 |
| 11:116836410:GG:G | acceptor_gain | 1.0000 |
| 11:116836412:C:CC | acceptor_gain | 1.0000 |
| 11:116836412:CTGG:C | acceptor_loss | 1.0000 |
| 11:116836995:CCTTA:C | donor_loss | 1.0000 |
| 11:116836996:CTTAC:C | donor_loss | 1.0000 |
| 11:116836997:TTA:T | donor_loss | 1.0000 |
| 11:116836998:TA:T | donor_loss | 1.0000 |
| 11:116836999:A:AC | donor_gain | 1.0000 |
| 11:116837000:C:CT | donor_gain | 1.0000 |
| 11:116837000:CT:C | donor_gain | 1.0000 |
| 11:116837000:CTT:C | donor_gain | 1.0000 |
| 11:116837000:CTTTA:C | donor_gain | 1.0000 |
| 11:116837005:G:C | donor_gain | 1.0000 |
| 11:116837154:CTCC:C | acceptor_gain | 1.0000 |
| 11:116837156:CCCT:C | acceptor_loss | 1.0000 |
| 11:116837158:C:CC | acceptor_gain | 1.0000 |
| 11:116837340:CCTA:C | donor_loss | 1.0000 |
| 11:116837341:CTAC:C | donor_loss | 1.0000 |
| 11:116837343:A:AC | donor_gain | 1.0000 |
| 11:116837343:A:T | donor_loss | 1.0000 |
| 11:116837343:AC:A | donor_gain | 1.0000 |
| 11:116837344:C:CC | donor_gain | 1.0000 |
| 11:116837344:CC:C | donor_gain | 1.0000 |
| 11:116837344:CCCGT:C | donor_gain | 1.0000 |
| 11:116836408:TAGGC:T | acceptor_gain | 0.9900 |
| 11:116836409:AGGC:A | acceptor_gain | 0.9900 |
| 11:116836410:GGCT:G | acceptor_gain | 0.9900 |
AlphaMissense
1750 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:116837362:G:T | A9D | 0.996 |
| 11:116836316:A:G | L99P | 0.993 |
| 11:116836064:A:G | L183P | 0.992 |
| 11:116837085:G:T | A39D | 0.992 |
| 11:116837345:C:G | G15R | 0.992 |
| 11:116837345:C:T | G15R | 0.992 |
| 11:116836361:A:G | L84P | 0.990 |
| 11:116836052:A:G | L187P | 0.988 |
| 11:116836118:A:G | L165P | 0.987 |
| 11:116836238:A:G | L125P | 0.987 |
| 11:116836130:A:G | L161P | 0.986 |
| 11:116837004:A:G | L66P | 0.986 |
| 11:116837157:C:T | G15E | 0.986 |
| 11:116836271:A:G | L114P | 0.985 |
| 11:116836086:C:G | A176P | 0.984 |
| 11:116837356:A:C | L11R | 0.984 |
| 11:116835941:A:G | L224P | 0.983 |
| 11:116837086:C:G | A39P | 0.983 |
| 11:116835899:A:G | L238P | 0.982 |
| 11:116836061:C:G | R184P | 0.981 |
| 11:116837064:A:T | L46H | 0.981 |
| 11:116837356:A:T | L11H | 0.981 |
| 11:116837359:A:T | V10E | 0.981 |
| 11:116837153:G:C | S16R | 0.980 |
| 11:116837153:G:T | S16R | 0.980 |
| 11:116837155:T:G | S16R | 0.980 |
| 11:116836082:C:G | R177P | 0.979 |
| 11:116836163:A:G | L150P | 0.979 |
| 11:116837077:A:C | Y42D | 0.979 |
| 11:116837088:A:G | L38P | 0.977 |
dbSNP variants (sampled 300 via entrez): RS1000565630 (11:116838663 G>A), RS1001716063 (11:116838365 G>A), RS1001983924 (11:116837874 G>A), RS1008384064 (11:116839564 C>G), RS1008789862 (11:116837591 G>A,T), RS1008830010 (11:116836471 T>A), RS1009109963 (11:116835393 G>A,C), RS1010256143 (11:116839272 C>T), RS1010302160 (11:116838046 C>G), RS1010344925 (11:116838688 T>G), RS1010713557 (11:116835723 C>A,G,T), RS1012274433 (11:116836067 G>A,T), RS1012647228 (11:116835719 C>A,T), RS1013275093 (11:116837480 G>A), RS1013730445 (11:116836865 C>T)
Disease associations
OMIM: gene MIM:107680 | disease phenotypes: MIM:105200, MIM:618463, MIM:619836, MIM:620657, MIM:604091, MIM:612936
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| familial visceral amyloidosis | Strong | Autosomal dominant |
| hypoalphalipoproteinemia, primary, 2 | Strong | Autosomal recessive |
| amyloidosis, hereditary systemic 3 | Strong | Autosomal dominant |
| apolipoprotein A-I deficiency | Supportive | Autosomal dominant |
| AApoAI amyloidosis | Supportive | Autosomal dominant |
Mondo (10): familial visceral amyloidosis (MONDO:0007099), hypoalphalipoproteinemia, primary, 2 (MONDO:0032766), hypoalphalipoproteinemia, primary, 2, intermediate (MONDO:0859238), amyloidosis, hereditary systemic 3 (MONDO:0971008), apolipoprotein A-I deficiency (MONDO:0700513), hypoalphalipoproteinemia, primary, 1 (MONDO:0011393), chronic kidney disease (MONDO:0005300), hereditary spastic paraplegia 50 (MONDO:0013048), (MONDO:0100189), AApoAI amyloidosis (MONDO:0019731)
Orphanet (3): Hereditary amyloidosis with primary renal involvement (Orphanet:85450), Apolipoprotein A-I deficiency (Orphanet:425), Severe intellectual disability and progressive spastic paraplegia (Orphanet:280763)
HPO phenotypes
42 total (30 of 42 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000093 | Proteinuria |
| HP:0000518 | Cataract |
| HP:0000622 | Blurred vision |
| HP:0000789 | Infertility |
| HP:0000822 | Hypertension |
| HP:0000956 | Acanthosis nigricans |
| HP:0000978 | Bruising susceptibility |
| HP:0000991 | Xanthomatosis |
| HP:0001084 | Corneal arcus |
| HP:0001114 | Xanthelasma |
| HP:0001399 | Hepatic failure |
| HP:0001609 | Hoarse voice |
| HP:0001635 | Congestive heart failure |
| HP:0001638 | Cardiomyopathy |
| HP:0001640 | Cardiomegaly |
| HP:0001681 | Angina pectoris |
| HP:0001873 | Thrombocytopenia |
| HP:0001917 | Renal amyloidosis |
| HP:0002014 | Diarrhea |
| HP:0002094 | Dyspnea |
| HP:0002240 | Hepatomegaly |
| HP:0002621 | Atherosclerosis |
| HP:0002907 | Microscopic hematuria |
| HP:0003119 | Abnormal circulating lipid concentration |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
| HP:0003216 | Generalized amyloid deposition |
| HP:0003233 | Decreased HDL cholesterol concentration |
| HP:0003596 | Middle age onset |
GWAS associations
63 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000131_3 | LDL cholesterol | 3.000000e-11 |
| GCST000137_2 | Triglycerides | 5.000000e-08 |
| GCST000138_5 | Triglycerides | 2.000000e-17 |
| GCST000139_1 | Triglycerides | 1.000000e-26 |
| GCST000282_1 | LDL cholesterol | 5.000000e-13 |
| GCST000285_3 | Cholesterol, total | 7.000000e-07 |
| GCST000286_6 | Triglycerides | 4.000000e-62 |
| GCST000289_6 | Triglycerides | 5.000000e-13 |
| GCST000290_3 | HDL cholesterol | 1.000000e-12 |
| GCST000300_1 | Triglycerides | 3.000000e-29 |
| GCST000583_1 | Hematological and biochemical traits | 9.000000e-10 |
| GCST000584_2 | Triglycerides | 1.000000e-49 |
| GCST000755_1 | HDL cholesterol | 5.000000e-47 |
| GCST000758_19 | Triglycerides | 7.000000e-240 |
| GCST000759_31 | LDL cholesterol | 1.000000e-26 |
| GCST000760_51 | Cholesterol, total | 6.000000e-57 |
| GCST000805_4 | HDL cholesterol | 2.000000e-11 |
| GCST000807_7 | LDL cholesterol | 2.000000e-06 |
| GCST000809_11 | Triglycerides | 4.000000e-21 |
| GCST000998_20 | Coronary heart disease | 1.000000e-17 |
| GCST001230_3 | Triglycerides | 2.000000e-86 |
| GCST001392_8 | Lipid metabolism phenotypes | 8.000000e-20 |
| GCST001639_26 | Metabolite levels | 8.000000e-20 |
| GCST001905_3 | Hypertriglyceridemia | 5.000000e-35 |
| GCST002145_1 | Infantile hypertrophic pyloric stenosis | 2.000000e-10 |
| GCST002216_21 | Triglycerides | 7.000000e-224 |
| GCST002221_7 | Cholesterol, total | 3.000000e-55 |
| GCST002222_17 | LDL cholesterol | 2.000000e-26 |
| GCST002223_16 | HDL cholesterol | 6.000000e-48 |
| GCST002289_10 | Coronary artery disease | 3.000000e-07 |
EFO canonical traits (10, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0004574 | total cholesterol measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004529 | lipid measurement |
| EFO:0004723 | coronary artery calcification |
| EFO:0006336 | diastolic blood pressure |
| EFO:0006335 | systolic blood pressure |
| EFO:0004340 | body mass index |
| EFO:0004614 | apolipoprotein A 1 measurement |
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D007676 | Kidney Failure, Chronic | C12.050.351.968.419.780.750.500; C12.200.777.419.780.750.500; C12.950.419.780.750.500; C23.550.291.500.906.500 |
| C538249 | Amyloidosis, familial visceral (supp.) | |
| C567858 | Spastic Paraplegia-50, Autosomal Recessive (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5984 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
2 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs2727786 | Efficacy | 3 | fenofibrate | Hypertriglyceridemia |
| rs964184 | Efficacy | 3 | fenofibrate | Hypertriglyceridemia |
PharmGKB variants
6 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs670 | APOA1 | 0.00 | 0 | ||
| rs613808 | APOA1 | 0.00 | 0 | ||
| rs964184 | APOA1, ZPR1 | 3 | 3.50 | 1 | fenofibrate |
| rs2727784 | APOA1 | 0.00 | 0 | ||
| rs2727786 | APOA1 | 3 | 2.00 | 1 | fenofibrate |
| rs11216158 | APOA1 | 0.00 | 0 |
CTD chemical–gene interactions
175 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cholesterol | increases activity, increases export, decreases reaction, increases transport, affects binding (+6 more) | 9 |
| Niacin | affects cotreatment, increases expression, increases reaction | 9 |
| Bezafibrate | affects binding, increases activity, increases reaction, increases transport, increases secretion (+2 more) | 8 |
| Cyclosporine | decreases expression, increases expression, affects cotreatment | 6 |
| Simvastatin | decreases reaction, increases expression, affects cotreatment, increases reaction, increases secretion | 6 |
| Valproic Acid | affects expression, decreases expression, increases methylation | 5 |
| pirinixic acid | decreases reaction, increases expression, increases reaction, affects cotreatment, decreases expression (+3 more) | 4 |
| perfluorooctanoic acid | decreases expression, increases expression | 4 |
| Benzo(a)pyrene | decreases expression, increases methylation, affects methylation | 4 |
| U 0126 | affects cotreatment, decreases expression, decreases reaction, increases expression | 3 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases reaction, increases expression, decreases expression | 3 |
| Fenofibrate | decreases expression, decreases reaction, increases reaction, increases secretion | 3 |
| Tobacco Smoke Pollution | affects expression, increases expression | 3 |
| Zinc | affects binding, decreases expression, increases expression | 3 |
| Cadmium Chloride | decreases expression, increases abundance | 3 |
| bisphenol A | increases reaction, affects cotreatment, affects reaction, decreases expression, decreases reaction (+2 more) | 2 |
| sodium arsenite | affects methylation, decreases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| T0901317 | decreases reaction, increases secretion, decreases expression | 2 |
| GW 7647 | increases expression | 2 |
| Chir 99021 | affects cotreatment, decreases expression, decreases reaction, increases expression, affects binding | 2 |
| Rosuvastatin Calcium | increases expression, increases reaction | 2 |
| Ezetimibe | affects cotreatment, increases expression, increases reaction | 2 |
| Resveratrol | increases export, decreases reaction, increases secretion | 2 |
| Acetaminophen | decreases expression, affects cotreatment | 2 |
| Acrolein | affects metabolic processing, decreases secretion, affects transport, decreases reaction | 2 |
| Ascorbic Acid | affects binding, affects cotreatment, increases expression, decreases expression | 2 |
| Aspirin | increases expression | 2 |
| Cadmium | affects binding, decreases expression, increases abundance | 2 |
| Chenodeoxycholic Acid | decreases expression, affects cotreatment | 2 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL2037796 | Binding | Induction of ApoA1-mediated cholesterol efflux in human THP1 cells after 12 hrs by fluorometric analysis | Hesperetin upregulates ABCA1 expression and promotes cholesterol efflux from THP-1 macrophages. — J Nat Prod |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_C0TY | SiHa-APOA1 | Cancer cell line | Female |
| CVCL_D6B0 | HyCyte Caco-2 KO-hAPOA1 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00073710 | PHASE4 | COMPLETED | Study to Evaluate the Effects of Zemplar Injection and Calcijex on Intestinal Absorption of Calcium |
| NCT00125593 | PHASE4 | COMPLETED | Study of Heart and Renal Protection |
| NCT00132431 | PHASE4 | COMPLETED | START: Sensipar Treatment Algorithm to Reach K/DOQI Targets in Chronic Kidney Disease Subjects With Secondary Hyperparathyroidism |
| NCT00155246 | PHASE4 | COMPLETED | Efficacy of Pentoxifylline on Chronic Kidney Disease |
| NCT00175149 | PHASE4 | TERMINATED | Active Vitamin D Effect on Left Ventricular Hypertrophy |
| NCT00184769 | PHASE4 | COMPLETED | Growth Hormone Treatment in Infants Aged 1 to 2 Years With Chronic Renal Insufficiency (CRI) and Growth Retardation. |
| NCT00190580 | PHASE4 | COMPLETED | Kanagawa Valsartan Trial (KVT): Effects of Valsartan on Renal and Cardiovascular Disease |
| NCT00194961 | PHASE4 | TERMINATED | Effect of Growth Hormone on Leptin, Cytokines and Body Composition of Children With Growth Failure Due to Chronic Kidney Disease |
| NCT00239642 | PHASE4 | COMPLETED | Safety and Efficacy of Iron Sucrose in Children |
| NCT00324571 | PHASE4 | COMPLETED | Dialysis Clinical Outcomes Revisited (DCOR) Trial |
| NCT00364884 | PHASE4 | UNKNOWN | Keto-/Amino Acid Supplemented Low Protein Diet in Patients With Chronic Kidney Disease |
| NCT00368901 | PHASE4 | COMPLETED | STAAR-2 Clinical Study |
| NCT00369733 | PHASE4 | COMPLETED | STAAR-3 Clinical Study |
| NCT00369772 | PHASE4 | COMPLETED | STAAR-1 Clinical Study |
| NCT00379899 | PHASE4 | COMPLETED | ADVANCE: Study to Evaluate Cinacalcet Plus Low Dose Vitamin D on Vascular Calcification in Subjects With Chronic Kidney Disease Receiving Hemodialysis |
| NCT00384618 | PHASE4 | TERMINATED | Anti-Oxidant Therapy In Chronic Renal Insufficiency (ATIC) Study |
| NCT00478543 | PHASE4 | COMPLETED | Loop Diuretics in Chronic Kidney Disease |
| NCT00632125 | PHASE4 | COMPLETED | Post-authorization Safety Study in CKD Subjects Receiving HX575 i.v. |
| NCT00644046 | PHASE4 | COMPLETED | Chronic Kidney Disease Prevention of An-Lo District, Keelung |
| NCT00719316 | PHASE4 | UNKNOWN | Aliskiren and Muscle Sympathetic Nerve Activity |
| NCT00725517 | PHASE4 | COMPLETED | Efficacy and Safety of a 7.5% Icodextrin Peritoneal Dialysis Solution in Once-Daily Long Dwell Exchange |
| NCT00741585 | PHASE4 | COMPLETED | Prognostic Value of the Circadian Pattern of Ambulatory Blood Pressure for Multiple Risk Assessment |
| NCT00749736 | PHASE4 | COMPLETED | The Role of Vitamin D in Immune Function in Patients With Chronic Kidney Disease (CKD) Stages 3 and 4. |
| NCT00752102 | PHASE4 | COMPLETED | Vitamin D and Coronary Calcification Study |
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Related Atlas pages
- Associated diseases: familial visceral amyloidosis, hypoalphalipoproteinemia, primary, 2, apolipoprotein A-I deficiency, AApoAI amyloidosis, amyloidosis, hereditary systemic 3
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): AApoAI amyloidosis, amyloidosis, hereditary systemic 3, apolipoprotein A-I deficiency, delirium, familial visceral amyloidosis, hereditary spastic paraplegia 50, hypertriglyceridemia, hypertrophic pyloric stenosis, hypoalphalipoproteinemia, primary, 1, hypoalphalipoproteinemia, primary, 2, hypoalphalipoproteinemia, primary, 2, intermediate