Homo sapiens Protein: APOA1
Summary
InnateDB Protein IDBP-72652.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol APOA1
Protein Name apolipoprotein A-I
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000364469
InnateDB Gene IDBG-72644 (APOA1)
Protein Structure
UniProt Annotation
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:0000269PubMed:1909888}.
Subcellular Localization Secreted.
Disease Associations 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.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.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.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:0000269PubMed:1502149, ECO:0000269PubMed:2123470, ECO:0000269PubMed:3142462, ECO:0000269PubMed:8208902}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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:0000269PubMed:12576517}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 89 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 89 [view]
Protein-Protein 86 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001540 beta-amyloid binding
GO:0005515 protein binding
GO:0005543 phospholipid binding
GO:0008289 lipid binding
GO:0015485 cholesterol binding
GO:0017127 cholesterol transporter activity
GO:0019899 enzyme binding
GO:0034190 apolipoprotein receptor binding
GO:0034191 apolipoprotein A-I receptor binding
GO:0042802 identical protein binding
GO:0060228 phosphatidylcholine-sterol O-acyltransferase activator activity
GO:0070653 high-density lipoprotein particle receptor binding
Biological Process
GO:0001523 retinoid metabolic process
GO:0002576 platelet degranulation
GO:0002740 negative regulation of cytokine secretion involved in immune response
GO:0006656 phosphatidylcholine biosynthetic process
GO:0006869 lipid transport
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007596 blood coagulation
GO:0007603 phototransduction, visible light
GO:0008203 cholesterol metabolic process
GO:0010804 negative regulation of tumor necrosis factor-mediated signaling pathway
GO:0010873 positive regulation of cholesterol esterification
GO:0010903 negative regulation of very-low-density lipoprotein particle remodeling
GO:0018158 protein oxidation
GO:0018206 peptidyl-methionine modification
GO:0030168 platelet activation
GO:0030301 cholesterol transport
GO:0032489 regulation of Cdc42 protein signal transduction
GO:0033344 cholesterol efflux
GO:0033700 phospholipid efflux
GO:0034115 negative regulation of heterotypic cell-cell adhesion
GO:0034375 high-density lipoprotein particle remodeling
GO:0034380 high-density lipoprotein particle assembly
GO:0034384 high-density lipoprotein particle clearance
GO:0042157 lipoprotein metabolic process
GO:0042632 cholesterol homeostasis
GO:0043691 reverse cholesterol transport
GO:0044255 cellular lipid metabolic process
GO:0044281 small molecule metabolic process
GO:0045087 innate immune response (InnateDB)
GO:0050713 negative regulation of interleukin-1 beta secretion
GO:0050728 negative regulation of inflammatory response
GO:0050821 protein stabilization
GO:0051345 positive regulation of hydrolase activity
GO:0055085 transmembrane transport
GO:0055091 phospholipid homeostasis
GO:0060354 negative regulation of cell adhesion molecule production
GO:0060761 negative regulation of response to cytokine stimulus
GO:0070328 triglyceride homeostasis
GO:0070508 cholesterol import
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005769 early endosome
GO:0005788 endoplasmic reticulum lumen
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0030139 endocytic vesicle
GO:0031410 cytoplasmic vesicle
GO:0034361 very-low-density lipoprotein particle
GO:0034364 high-density lipoprotein particle
GO:0034366 spherical high-density lipoprotein particle
GO:0034774 secretory granule lumen
GO:0070062 extracellular vesicular exosome
GO:0071682 endocytic vesicle lumen
GO:0072562 blood microparticle
Protein Structure and Domains
PDB ID
InterPro IPR000074 Apolipoprotein A1/A4/E
PFAM PF01442
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P02647
PhosphoSite PhosphoSite-P02647
TrEMBL A0A024R3E3
UniProt Splice Variant
Entrez Gene 335
UniGene
RefSeq XP_005271597
HUGO HGNC:600
OMIM 107680
CCDS CCDS8378
HPRD 02517
IMGT
EMBL A14829 AK292231 AY422952 AY555191 BC005380 BC110286 CH471065 EF444948 J00098 M11791 M27875 M29068 X00566 X01038 X02162 X07496
GenPept AAA35545 AAA51747 AAA62829 AAB59514 AAH05380 AAI10287 AAQ91811 AAS68227 ACA05932 ACA05933 ACA05934 ACA05935 ACA05936 BAF84920 CAA01198 CAA25232 CAA25519 CAA26097 CAA30377 EAW67274 EAW67275 EAW67276