10         20         30         40         50         60
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MKAAVLTLAV LFLTGSQARH FWQQDEPPQS PWDRVKDLAT VYVDVLKDSG RDYVSQFEGS - 60
ALGKQLNLKL LDNWDSVTST FSKLREQLGP VTQEFWDNLE KETEGLRQEM SKDLEEVKAK - 120
VQPYLDDFQK KWQEEMELYR QKVEPLRAEL QEGARQKLHE LQEKLSPLGE EMRDRARAHV - 180
DALRTHLAPY SDELRQRLAA RLEALKENGG ARLAEYHAKA TEHLSTLSEK AKPALEDLRQ - 240
GLLPVLESFK VSFLSALEEY TKKLNTQ

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: 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. P05067:APP; NbExp=5; IntAct=EBI-701692, EBI-77613;


Subcellular Location: Secreted.
TISSUE SPECIFICITY: Major protein of plasma HDL, also found in chylomicrons. Synthesized in the liver and small intestine.
PTM: Palmitoylated.
PTM: Phosphorylation sites are present in the extracelllular medium.
DISEASE: Defects in APOA1 are a cause of high density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]; also known as familial hypoalphalipoproteinemia (FHA). Inheritance is autosomal dominant.
DISEASE: Defects in APOA1 are a cause of the low HDL levels observed in high density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]; also known as analphalipoproteinemia or Tangier disease (TGD). HDLD1 is a recessive disorder characterized by the absence of plasma HDL, accumulation of cholesteryl esters, premature coronary artery disease, hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness. In HDLD1 patients, ApoA-I fails to associate with HDL probably because of the faulty conversion of pro-ApoA-I molecules into mature chains, either due to a defect in the converting enzyme activity or a specific structural defect in Tangier ApoA-I.
DISEASE: Defects in APOA1 are the cause of amyloid polyneuropathy- nephropathy Iowa type (AMYLIOWA) [MIM:107680]; also known as amyloidosis van Allen type or familial amyloid polyneuropathy type III. AMYLIOWA is a hereditary generalized amyloidosis due to deposition of amyloid mainly constituted by apolipoprotein A1. 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. Severe peptic ulcer disease can occurr in some and hearing loss is frequent. Cataracts is present in several, but vitreous opacities are not observed.
DISEASE: Defects in APOA1 are a cause of amyloidosis type 8 (AMYL8) [MIM:105200]; also known as systemic non-neuropathic amyloidosis or Ostertag-type amyloidosis. AMYL8 is 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.
SIMILARITY: Belongs to the apolipoprotein A1/A4/E family.
WEB RESOURCE: Name=GeneReviews; URL=\'http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APOA1\';
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\';
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Previous entry DP00386 has been split into the polyprotein (DP00386) and cleavage product 1 DP00386_C001. Disorder is characterized on the cleavage product.

A 243-aa form also exists that is identical to the cleavage product but for the addition of a Glutamine at what would be position 243 in the cleavage product (position 267 in the polyprotein).