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MGP000167

UniProt Annotations

Entry Information

Gene Name	apolipoprotein A-I
Protein Entry	APOA1_HUMAN
UniProt ID	P02647
Species	Human

Comments

Comment type	Description
Disease	Amyloidosis 8 (AMYL8) [MIM:105200]: A hereditary generalized amyloidosis due to deposition of apolipoprotein A1, fibrinogen and lysozyme amyloids. Viscera are particularly affected. There is no involvement of the nervous system. Clinical features include renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. {ECO:0000269\|PubMed:1502149, ECO:0000269\|PubMed:2123470, ECO:0000269\|PubMed:3142462, ECO:0000269\|PubMed:8208902}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]: Recessive disorder characterized by absence of high density lipoprotein (HDL) cholesterol from plasma, accumulation of cholesteryl esters, premature coronary artery disease (CAD), hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]: Inherited as autosomal dominant trait. It is characterized by moderately low HDL cholesterol, predilection toward premature coronary artery disease (CAD) and a reduction in cellular cholesterol efflux. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Note=APOA1 mutations may be involved in the pathogenesis of amyloid polyneuropathy-nephropathy Iowa type, also known as amyloidosis van Allen type or familial amyloid polyneuropathy type III (PubMed:3142462 and PubMed:2123470). The clinical picture is dominated by neuropathy in the early stages of the disease and nephropathy late in the course. Death is due in most cases to renal amyloidosis.
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. {ECO:0000269\|PubMed:1909888}.
Interaction	Self; NbExp=12; IntAct=EBI-701692, EBI-701692; O95477:ABCA1; NbExp=4; IntAct=EBI-701692, EBI-784112; P05067:APP; NbExp=5; IntAct=EBI-701692, EBI-77613; P02671:FGA; NbExp=2; IntAct=EBI-701692, EBI-348571; P00738:HP; NbExp=3; IntAct=EBI-701692, EBI-1220767;
Mass Spectrometry	Mass=28081; Method=Electrospray; Range=25-267; Note=Without methionine sulfoxide.; Evidence={ECO:0000269\|PubMed:12576517};
Mass Spectrometry	Mass=28095; Method=Electrospray; Range=25-267; Note=With 1 methionine sulfoxide, oxidation at Met-136.; Evidence={ECO:0000269\|PubMed:12576517};
Mass Spectrometry	Mass=28098; Method=Electrospray; Range=25-267; Note=With 1 methionine sulfoxide, oxidation at Met-110.; Evidence={ECO:0000269\|PubMed:12576517};
Mass Spectrometry	Mass=28114; Method=Electrospray; Range=25-267; Note=With 2 methionine sulfoxides, oxidation at Met-110 and Met- 136.; Evidence={ECO:0000269\|PubMed:12576517};
Polymorphism	Genetic variations in APOA1 can result in APOA1 deficiency and are associated with low levels of HDL cholesterol [MIM:107680].
Ptm	Glycosylated. {ECO:0000250}.
Ptm	Palmitoylated. {ECO:0000269\|PubMed:3005308}.
Ptm	Phosphorylation sites are present in the extracellular medium.
Similarity	Belongs to the apolipoprotein A1/A4/E family. {ECO:0000305}.
Subcellular Location	Secreted.
Subunit	Interacts with APOA1BP 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. {ECO:0000269\|PubMed:11991719, ECO:0000269\|PubMed:15922294, ECO:0000269\|PubMed:1742316, ECO:0000269\|PubMed:1909888}.
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. {ECO:0000269\|PubMed:12576517}.
Web Resource	Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=APOA1";