ENSG00000118137


Homo sapiens

Features
Gene ID: ENSG00000118137
  
Biological name :APOA1
  
Synonyms : APOA1 / apolipoprotein A1 / P02647
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q23.3
Gene start: 116835751
Gene end: 116837950
  
Corresponding Affymetrix probe sets: 204450_x_at (Human Genome U133 Plus 2.0 Array)   217073_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000236850
Ensembl peptide - ENSP00000364469
Ensembl peptide - ENSP00000364472
Ensembl peptide - ENSP00000364478
Ensembl peptide - ENSP00000352471
NCBI entrez gene - 335     See in Manteia.
OMIM - 107680
RefSeq - NM_000039
RefSeq - NM_001318017
RefSeq - NM_001318018
RefSeq - NM_001318021
RefSeq Peptide - NP_001304946
RefSeq Peptide - NP_000030
RefSeq Peptide - NP_001304950
RefSeq Peptide - NP_001304947
swissprot - P02647
swissprot - F8W696
swissprot - A0A024R3E3
Ensembl - ENSG00000118137
  
Related genetic diseases (OMIM): 105200 - Amyloidosis, 3 or more types, 105200
  107680 - ApoA-I and apoC-III deficiency, combined
  604091 - Hypoalphalipoproteinemia, 604091
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 apoa1aENSDARG00000012076Danio rerio
 apoa1bENSDARG00000101324Danio rerio
 APOA1ENSGALG00000007114Gallus gallus
 Apoa1ENSMUSG00000032083Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
APOA4 / P06727 / apolipoprotein A4ENSG0000011024424
APOA5 / Q6Q788 / apolipoprotein A5ENSG0000011024321


Protein motifs (from Interpro)
Interpro ID Name
 IPR000074  Apolipoprotein A/E


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001523 retinoid metabolic process TAS
 biological_processGO:0001932 regulation of protein phosphorylation IEA
 biological_processGO:0001935 endothelial cell proliferation IEA
 biological_processGO:0002576 platelet degranulation TAS
 biological_processGO:0002740 negative regulation of cytokine secretion involved in immune response IDA
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006644 phospholipid metabolic process IEA
 biological_processGO:0006656 phosphatidylcholine biosynthetic process IDA
 biological_processGO:0006695 cholesterol biosynthetic process IBA
 biological_processGO:0006869 lipid transport IEA
 biological_processGO:0006898 receptor-mediated endocytosis TAS
 biological_processGO:0007186 G-protein coupled receptor signaling pathway IDA
 biological_processGO:0007229 integrin-mediated signaling pathway IDA
 biological_processGO:0007584 response to nutrient IEA
 biological_processGO:0008202 steroid metabolic process IEA
 biological_processGO:0008203 cholesterol metabolic process IMP
 biological_processGO:0008211 glucocorticoid metabolic process IEA
 biological_processGO:0010804 negative regulation of tumor necrosis factor-mediated signaling pathway IDA
 biological_processGO:0010873 positive regulation of cholesterol esterification IDA
 biological_processGO:0010898 positive regulation of triglyceride catabolic process IBA
 biological_processGO:0010903 negative regulation of very-low-density lipoprotein particle remodeling IDA
 biological_processGO:0014012 peripheral nervous system axon regeneration IEA
 biological_processGO:0015914 phospholipid transport IEA
 biological_processGO:0018158 protein oxidation IDA
 biological_processGO:0018206 peptidyl-methionine modification IDA
 biological_processGO:0019216 regulation of lipid metabolic process TAS
 biological_processGO:0019433 triglyceride catabolic process IBA
 biological_processGO:0019915 lipid storage IEA
 biological_processGO:0030300 regulation of intestinal cholesterol absorption IBA
 biological_processGO:0030301 cholesterol transport IDA
 biological_processGO:0030325 adrenal gland development IEA
 biological_processGO:0031100 animal organ regeneration IEA
 biological_processGO:0031102 neuron projection regeneration IBA
 biological_processGO:0032489 regulation of Cdc42 protein signal transduction IDA
 biological_processGO:0033344 cholesterol efflux IMP
 biological_processGO:0033700 phospholipid efflux IDA
 biological_processGO:0034115 negative regulation of heterotypic cell-cell adhesion IDA
 biological_processGO:0034371 chylomicron remodeling TAS
 biological_processGO:0034375 high-density lipoprotein particle remodeling TAS
 biological_processGO:0034378 chylomicron assembly TAS
 biological_processGO:0034380 high-density lipoprotein particle assembly TAS
 biological_processGO:0034384 high-density lipoprotein particle clearance IC
 biological_processGO:0035025 positive regulation of Rho protein signal transduction IDA
 biological_processGO:0042157 lipoprotein metabolic process IBA
 biological_processGO:0042158 lipoprotein biosynthetic process IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0042632 cholesterol homeostasis IMP
 biological_processGO:0043534 blood vessel endothelial cell migration IEA
 biological_processGO:0043627 response to estrogen IEA
 biological_processGO:0043687 post-translational protein modification TAS
 biological_processGO:0043691 reverse cholesterol transport IMP
 biological_processGO:0044267 cellular protein metabolic process TAS
 biological_processGO:0045723 positive regulation of fatty acid biosynthetic process IBA
 biological_processGO:0050713 negative regulation of interleukin-1 beta secretion IDA
 biological_processGO:0050728 negative regulation of inflammatory response IDA
 biological_processGO:0050821 protein stabilization IDA
 biological_processGO:0050919 negative chemotaxis IDA
 biological_processGO:0051006 positive regulation of lipoprotein lipase activity IBA
 biological_processGO:0051180 vitamin transport IMP
 biological_processGO:0051345 positive regulation of hydrolase activity IDA
 biological_processGO:0051346 negative regulation of hydrolase activity IEA
 biological_processGO:0051496 positive regulation of stress fiber assembly IDA
 biological_processGO:0055085 transmembrane transport TAS
 biological_processGO:0055091 phospholipid homeostasis IDA
 biological_processGO:0060192 negative regulation of lipase activity IEA
 biological_processGO:0060354 negative regulation of cell adhesion molecule production IDA
 biological_processGO:0060761 negative regulation of response to cytokine stimulus IDA
 biological_processGO:0070328 triglyceride homeostasis IDA
 biological_processGO:0070508 cholesterol import IMP
 biological_processGO:1900026 positive regulation of substrate adhesion-dependent cell spreading IDA
 cellular_componentGO:0005576 extracellular region IDA
 cellular_componentGO:0005615 extracellular space ISS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005769 early endosome TAS
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0030139 endocytic vesicle IDA
 cellular_componentGO:0031012 extracellular matrix IDA
 cellular_componentGO:0031410 cytoplasmic vesicle IDA
 cellular_componentGO:0034361 very-low-density lipoprotein particle IDA
 cellular_componentGO:0034362 low-density lipoprotein particle IEA
 cellular_componentGO:0034363 intermediate-density lipoprotein particle IEA
 cellular_componentGO:0034364 high-density lipoprotein particle IDA
 cellular_componentGO:0034365 discoidal high-density lipoprotein particle IEA
 cellular_componentGO:0034366 spherical high-density lipoprotein particle IDA
 cellular_componentGO:0034774 secretory granule lumen TAS
 cellular_componentGO:0042627 chylomicron IBA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0071682 endocytic vesicle lumen TAS
 cellular_componentGO:0072562 blood microparticle HDA
 cellular_componentGO:1903561 extracellular vesicle HDA
 molecular_functionGO:0001540 amyloid-beta binding IPI
 molecular_functionGO:0005319 lipid transporter activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005543 phospholipid binding IDA
 molecular_functionGO:0005548 phospholipid transporter activity IEA
 molecular_functionGO:0008035 high-density lipoprotein particle binding IEA
 molecular_functionGO:0008289 lipid binding IEA
 molecular_functionGO:0015485 cholesterol binding IDA
 molecular_functionGO:0017127 cholesterol transporter activity IMP
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0031072 heat shock protein binding IPI
 molecular_functionGO:0031210 phosphatidylcholine binding IBA
 molecular_functionGO:0034190 apolipoprotein receptor binding IPI
 molecular_functionGO:0034191 apolipoprotein A-I receptor binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0045499 chemorepellent activity IDA
 molecular_functionGO:0055102 lipase inhibitor activity IEA
 molecular_functionGO:0060228 phosphatidylcholine-sterol O-acyltransferase activator activity IDA
 molecular_functionGO:0070653 high-density lipoprotein particle receptor binding IPI
 molecular_functionGO:0071813 lipoprotein particle binding IEA


Pathways (from Reactome)
Pathway description
Platelet degranulation
ABC transporters in lipid homeostasis
PPARA activates gene expression
Scavenging of heme from plasma
Scavenging by Class B Receptors
Scavenging by Class A Receptors
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
Chylomicron assembly
HDL assembly
Chylomicron remodeling
HDL clearance
HDL remodeling
Retinoid metabolism and transport
Amyloid fiber formation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000093 Proteinuria 
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 HP:0000100 Nephrotic syndrome 
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 HP:0000112 Nephropathy "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators]
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 HP:0000622 Blurred vision 
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 HP:0000790 Hematuria "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators]
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0000969 Edema "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability." [HPO:curators]
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 HP:0000988 Skin rash 
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 HP:0000991 Xanthomatosis "The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin." [HPO:curators]
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 HP:0001392 Abnormality of the liver 
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 HP:0001396 Cholestasis 
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001903 Anemia 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002716 Lymphadenopathy 
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 HP:0003216 Generalized amyloid deposition 
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 HP:0003233 Decreased HDL cholesterol 
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 HP:0003457 Abnormal EMG findings "Abnormal results of investigations using electromyography (EMG)." [HPO:curators]
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 HP:0004374 Hemiplegia/hemiparesis "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength." [HPO:curators]
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 HP:0007957 Variable degree of corneal opacities 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000107611 CUBN / O60494 / cubilin  / reaction / complex
 ENSG00000165029 ABCA1 / O95477 / ATP binding cassette subfamily A member 1  / complex / reaction
 ENSG00000064687 ABCA7 / Q8IZY2 / ATP binding cassette subfamily A member 7  / complex
 ENSG00000118137 APOA1 / P02647 / apolipoprotein A1  / - / complex / reaction
 ENSG00000166126 AMN / Q9BXJ7 / amnion associated transmembrane protein  / complex / reaction
 ENSG00000213398 LCAT / P04180 / lecithin-cholesterol acyltransferase  / reaction / complex
 ENSG00000168487 BMP1 / P13497 / bone morphogenetic protein 1  / reaction






 

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