P02647 · APOA1_HUMAN

  • Protein
    Apolipoprotein A-I
  • Gene
    APOA1
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

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.

GO annotations

all annotationsall molecular functionvirus receptor activitydna bindingrna bindingcytoskeletal motor activitycatalytic activitygtpase activitystructural molecule activitytransporter activitycytoskeletal protein bindinglipid bindingcyclase activityantioxidant activityoxidoreductase activitytransferase activityhydrolase activitylyase activityisomerase activityligase activityprotein tag activitycargo receptor activityhistone bindingprotein folding chaperonetranslation regulator activitynutrient reservoir activityreceptor ligand activitymolecular transducer activitymolecular adaptor activitytoxin activitycell adhesion mediator activitymolecular function regulator activityvirus coreceptor activitycatalytic activity, acting on a proteincatalytic activity, acting on dnacatalytic activity, acting on rnamolecular carrier activitytranscription regulator activitygeneral transcription initiation factor activitymolecular sensor activitymolecular sequestering activityatp-dependent activityother molecular functionall biological processmitotic cell cyclecytokinesiscytoplasmic translationimmune system processmuscle system processcirculatory system processrenal system processrespiratory system processcarbohydrate metabolic processgeneration of precursor metabolites and energydna replicationdna repairdna recombinationchromatin organizationdna-templated transcriptionregulation of dna-templated transcriptiontrna metabolic processprotein foldingprotein glycosylationamino acid metabolic processmodified amino acid metabolic processlipid metabolic processvitamin metabolic processsulfur compound metabolic processintracellular protein transportnucleocytoplasmic transportautophagyinflammatory responsemitochondrion organizationcytoskeleton organizationmicrotubule-based movementperoxisome organizationlysosome organizationchromosome segregationcell adhesionestablishment or maintenance of cell polarityprogrammed cell deathphotosynthesismrna metabolic processsnrna metabolic processvesicle-mediated transportreproductive processdigestive system processsignalingcell differentiationprotein catabolic processextracellular matrix organizationregulatory ncrna-mediated gene silencingtelomere organizationcell junction organizationwound healingribosome biogenesiscilium organizationanatomical structure developmentcell motilitynervous system processendocrine processprotein maturationtransmembrane transportnucleobase-containing small molecule metabolic processhepaticobiliary system processmembrane organizationprotein-containing complex assemblycell wall organization or biogenesisnitrogen cycle metabolic processprotein localization to plasma membranedefense response to other organismdetoxificationmeiotic nuclear divisionmitotic nuclear divisionmitochondrial gene expressioncarbohydrate derivative metabolic processother biological processall cellular componentnuclear chromosomeextracellular regionextracellular spacecell wallnucleusnuclear envelopenucleoplasmchromosomenucleolusmitochondrionlysosomeendosomevacuoleperoxisomeendoplasmic reticulumgolgi apparatuslipid dropletmicrotubule organizing centercytosolribosomecytoskeletonplasma membraneciliumplastidthylakoidexternal encapsulating structureextracellular matrixcytoplasmic vesicleorganelleother cellular component
Cell color indicative of number of GO terms
AspectTerm
Cellular Componentblood microparticle
Cellular Componentchylomicron
Cellular Componentcollagen-containing extracellular matrix
Cellular Componentcytoplasmic vesicle
Cellular Componentcytosol
Cellular Componentearly endosome
Cellular Componentendocytic vesicle
Cellular Componentendocytic vesicle lumen
Cellular Componentendoplasmic reticulum lumen
Cellular Componentextracellular exosome
Cellular Componentextracellular region
Cellular Componentextracellular space
Cellular Componentextracellular vesicle
Cellular Componenthigh-density lipoprotein particle
Cellular Componentlow-density lipoprotein particle
Cellular Componentplasma membrane
Cellular Componentsecretory granule lumen
Cellular Componentspherical high-density lipoprotein particle
Cellular Componentvery-low-density lipoprotein particle
Molecular Functionamyloid-beta binding
Molecular Functionapolipoprotein A-I receptor binding
Molecular Functionapolipoprotein receptor binding
Molecular Functionchemorepellent activity
Molecular Functioncholesterol binding
Molecular Functioncholesterol transfer activity
Molecular Functionenzyme binding
Molecular Functionheat shock protein binding
Molecular Functionhigh-density lipoprotein particle binding
Molecular Functionhigh-density lipoprotein particle receptor binding
Molecular Functionidentical protein binding
Molecular Functionphosphatidylcholine-sterol O-acyltransferase activator activity
Molecular Functionphospholipid binding
Molecular Functionprotein homodimerization activity
Molecular Functionreceptor ligand activity
Molecular Functionsignaling receptor binding
Biological Processacylglycerol homeostasis
Biological Processadrenal gland development
Biological Processblood vessel endothelial cell migration
Biological Processcellular response to lipoprotein particle stimulus
Biological Processcholesterol biosynthetic process
Biological Processcholesterol efflux
Biological Processcholesterol homeostasis
Biological Processcholesterol import
Biological Processcholesterol metabolic process
Biological Processcholesterol transport
Biological Processendothelial cell proliferation
Biological ProcessG protein-coupled receptor signaling pathway
Biological Processglucocorticoid metabolic process
Biological Processhigh-density lipoprotein particle assembly
Biological Processhigh-density lipoprotein particle clearance
Biological Processhigh-density lipoprotein particle remodeling
Biological Processintegrin-mediated signaling pathway
Biological Processlipid storage
Biological Processlipoprotein biosynthetic process
Biological Processnegative chemotaxis
Biological Processnegative regulation of cell adhesion molecule production
Biological Processnegative regulation of cytokine production involved in immune response
Biological Processnegative regulation of heterotypic cell-cell adhesion
Biological Processnegative regulation of inflammatory response
Biological Processnegative regulation of interleukin-1 beta production
Biological Processnegative regulation of response to cytokine stimulus
Biological Processnegative regulation of tumor necrosis factor-mediated signaling pathway
Biological Processnegative regulation of very-low-density lipoprotein particle remodeling
Biological Processpeptidyl-methionine modification
Biological Processphosphatidylcholine biosynthetic process
Biological Processphospholipid efflux
Biological Processphospholipid homeostasis
Biological Processpositive regulation of cholesterol efflux
Biological Processpositive regulation of cholesterol metabolic process
Biological Processpositive regulation of CoA-transferase activity
Biological Processpositive regulation of hydrolase activity
Biological Processpositive regulation of phagocytosis
Biological Processpositive regulation of phospholipid efflux
Biological Processpositive regulation of Rho protein signal transduction
Biological Processpositive regulation of stress fiber assembly
Biological Processpositive regulation of substrate adhesion-dependent cell spreading
Biological Processprotein oxidation
Biological Processprotein stabilization
Biological Processregulation of Cdc42 protein signal transduction
Biological Processregulation of intestinal cholesterol absorption
Biological Processregulation of protein phosphorylation
Biological Processreverse cholesterol transport
Biological Processtriglyceride homeostasis
Biological Processvitamin transport

Keywords

Enzyme and pathway databases

Names & Taxonomy

Protein names

Gene names

    • Name
      APOA1

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    P02647
  • Secondary accessions
    • A8K866
    • Q6LDN9
    • Q6Q785
    • Q9UCS8
    • Q9UCT8

Proteomes

Organism-specific databases

Disease & Variants

Involvement in disease

Hypoalphalipoproteinemia, primary, 2 (FHA2)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    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.
  • See also
    MIM:618463
Natural variants in FHA2
Variant IDPosition(s)ChangeDescription
VAR_08330723-267missingin FHA2; no protein expression
VAR_083309108-267missingin FHA2; missing protein expression

Hypoalphalipoproteinemia, primary, 2, intermediate (FHA2I)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    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.
  • See also
    MIM:619836

Familial apolipoprotein gene cluster deletion syndrome (FAPLDS)

  • Note
    • The gene represented in this entry is involved in disease pathogenesis
  • Description
    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.
  • See also
    MIM:620058

Amyloidosis, hereditary systemic 3 (AMYLD3)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    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.
  • See also
    MIM:620657
Natural variants in AMYLD3
Variant IDPosition(s)ChangeDescription
VAR_00060950G>Rin AMYLD3; dbSNP:rs28931574
VAR_00061084L>Rin AMYLD3; dbSNP:rs121912724
VAR_083310173R>Pin AMYLD3; uncertain significance
VAR_083311198L>Sin AMYLD3; plasma level of HDL and apoA-I protein were significantly lower in the patient
VAR_083312199A>Pin AMYLD3; uncertain significance

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_08330723-267in FHA2; no protein expression
Natural variantVAR_00060527in Munster-3C; dbSNP:rs121912720
Natural variantVAR_00060627in dbSNP:rs121912720
Natural variantVAR_00060728in Munster-3B; dbSNP:rs121912721
Natural variantVAR_00060834in Baltimore; dbSNP:rs28929476
Natural variantVAR_00060950in AMYLD3; dbSNP:rs28931574
Natural variantVAR_08330856-267in HDL deficiency; with periorbital xanthelasmas; decreased protein abundance
Natural variantVAR_02544561in dbSNP:rs12718465
Natural variantVAR_00061084in AMYLD3; dbSNP:rs121912724
Natural variantVAR_01701792confirmed at protein level; dbSNP:rs766422306
Natural variantVAR_083309108-267in FHA2; missing protein expression
Natural variantVAR_000611113in dbSNP:rs150243849
Natural variantVAR_000612119in Hita
Natural variantVAR_016189126in dbSNP:rs5077
Natural variantVAR_000613127in Munster-3A; dbSNP:rs921646982
Natural variantVAR_000615131in dbSNP:rs4882
Natural variantVAR_000614131in Marburg/Munster-2
Natural variantVAR_000616132in Tsushima
Natural variantVAR_000617134in Fukuoka
Natural variantVAR_000618160in Norway; dbSNP:rs121912718
Natural variantVAR_000619163in dbSNP:rs758509542
Natural variantVAR_000620167in Giessen; dbSNP:rs121912719
Natural variantVAR_000621168in Zaragoza
Natural variantVAR_000622171in dbSNP:rs1015066427
Natural variantVAR_083310173in AMYLD3; uncertain significance
Natural variantVAR_074073173in Boston; correlated with decreased levels of HDL cholesterol; correlated with decreased serum cellular cholesterol efflux; correlated with decreased lecithin-cholesterol acyltransferase (LCAT) activity
Natural variantVAR_021362180in Oita; 60% of normal apoA-I and normal HDL cholesterol levels; rapidly cleared from plasma; dbSNP:rs121912727
Natural variantVAR_014609184in dbSNP:rs5078
Natural variantVAR_000623189in dbSNP:rs121912722
Natural variantVAR_000624197in Milano; correlated with decreased HDL levels and moderate increase in triglycerides; allows the formation of disulfide-linked homodimers via the introduced cysteine; assembles properly in HDL; alters protein structure; has no tendency to form fibrils and aggregates; dbSNP:rs28931573
Natural variantVAR_083311198in AMYLD3; plasma level of HDL and apoA-I protein were significantly lower in the patient
Natural variantVAR_083312199in AMYLD3; uncertain significance
Natural variantVAR_000625222in Munster-4; dbSNP:rs121912717

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 396 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Chemistry

Genetic variation databases

PTM/Processing

Features

Showing features for signal, chain, modified residue (large scale data), modified residue, glycosylation.

TypeIDPosition(s)SourceDescription
Signal1-18UniProt
ChainPRO_000042532319-267UniProtProapolipoprotein A-I
ChainPRO_000000194025-266UniProtTruncated apolipoprotein A-I
ChainPRO_000000193925-267UniProtApolipoprotein A-I
Modified residue (large scale data)55PRIDEPhosphoserine
Modified residue110UniProtMethionine sulfoxide
Modified residue136UniProtMethionine sulfoxide
Modified residue (large scale data)191PRIDEPhosphoserine
Glycosylation263UniProtN-linked (Glc) (glycation) lysine

Post-translational modification

Glycosylated.
Palmitoylated.
Phosphorylation sites are present in the extracellular medium.

Keywords

Proteomic databases

2D gel databases

PTM databases

Expression

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.

Gene expression databases

Organism-specific databases

Interaction

Subunit

Homodimer (By similarity).
Interacts with NAXE and CLU (PubMed:11991719, PubMed:1742316).
Component of a sperm activating protein complex (SPAP), consisting of APOA1, an immunoglobulin heavy chain, an immunoglobulin light chain and albumin (PubMed:1909888).
Interacts with NDRG1 (PubMed:15922294).
Interacts with SCGB3A2 (PubMed:12847263).
Interacts with NAXE and YJEFN3 (PubMed:23719382).

Binary interactions

Protein-protein interaction databases

Miscellaneous

Family & Domains

Features

Showing features for repeat, region.

TypeIDPosition(s)Description
Repeat68-891
Region68-26710 X approximate tandem repeats
Repeat90-1112
Repeat112-1223; half-length
Repeat123-1444
Repeat145-1665
Repeat167-1886
Repeat189-2107
Repeat211-2328
Repeat233-2439; half-length
Repeat244-26710

Sequence similarities

Belongs to the apolipoprotein A1/A4/E family.

Keywords

Phylogenomic databases

Family and domain databases

Sequence

  • Sequence status
    Complete
  • Sequence processing
    The displayed sequence is further processed into a mature form.
  • Length
    267
  • Mass (Da)
    30,778
  • Last updated
    1986-07-21 v1
  • Checksum
    1A28B8366E620310
MKAAVLTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVDVLKDSGRDYVSQFEGSALGKQLNLKLLDNWDSVTSTFSKLREQLGPVTQEFWDNLEKETEGLRQEMSKDLEEVKAKVQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHELQEKLSPLGEEMRDRARAHVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHAKATEHLSTLSEKAKPALEDLRQGLLPVLESFKVSFLSALEEYTKKLNTQ

Computationally mapped potential isoform sequences

There is 1 potential isoform mapped to this entry

View all
EntryEntry nameGene nameLength
F8W696F8W696_HUMANAPOA1245

Features

Showing features for sequence conflict.

TypeIDPosition(s)Description
Sequence conflict32in Ref. 25; AA sequence

Mass Spectrometry

Apolipoprotein A-I

Molecular mass is 28,081 Da. Determined by Electrospray. Without methionine sulfoxide.

Apolipoprotein A-I

Molecular mass is 28,098 Da. Determined by Electrospray. With 1 methionine sulfoxide, oxidation at Met-110.

Apolipoprotein A-I

Molecular mass is 28,095 Da. Determined by Electrospray. With 1 methionine sulfoxide, oxidation at Met-136.

Apolipoprotein A-I

Molecular mass is 28,114 Da. Determined by Electrospray. With 2 methionine sulfoxides, oxidation at Met-110 and Met-136.

Polymorphism

Genetic variations in APOA1 can result in APOA1 deficiency and are associated with low levels of HDL cholesterol [MIM:107680].

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
J00098
EMBL· GenBank· DDBJ
AAB59514.1
EMBL· GenBank· DDBJ
Genomic DNA
X01038
EMBL· GenBank· DDBJ
CAA25519.1
EMBL· GenBank· DDBJ
Genomic DNA
X02162
EMBL· GenBank· DDBJ
CAA26097.1
EMBL· GenBank· DDBJ
mRNA
X00566
EMBL· GenBank· DDBJ
CAA25232.1
EMBL· GenBank· DDBJ
mRNA
M11791
EMBL· GenBank· DDBJ
AAA35545.1
EMBL· GenBank· DDBJ
mRNA
X07496
EMBL· GenBank· DDBJ
CAA30377.1
EMBL· GenBank· DDBJ
Genomic DNA
M27875
EMBL· GenBank· DDBJ
AAA62829.1
EMBL· GenBank· DDBJ
mRNA
M29068
EMBL· GenBank· DDBJ
AAA51747.1
EMBL· GenBank· DDBJ
mRNA
AY422952
EMBL· GenBank· DDBJ
AAQ91811.1
EMBL· GenBank· DDBJ
Genomic DNA
AY555191
EMBL· GenBank· DDBJ
AAS68227.1
EMBL· GenBank· DDBJ
Genomic DNA
A14829
EMBL· GenBank· DDBJ
CAA01198.1
EMBL· GenBank· DDBJ
mRNA
AK292231
EMBL· GenBank· DDBJ
BAF84920.1
EMBL· GenBank· DDBJ
mRNA
EF444948
EMBL· GenBank· DDBJ
ACA05932.1
EMBL· GenBank· DDBJ
Genomic DNA
EF444948
EMBL· GenBank· DDBJ
ACA05933.1
EMBL· GenBank· DDBJ
Genomic DNA
EF444948
EMBL· GenBank· DDBJ
ACA05934.1
EMBL· GenBank· DDBJ
Genomic DNA
EF444948
EMBL· GenBank· DDBJ
ACA05935.1
EMBL· GenBank· DDBJ
Genomic DNA
EF444948
EMBL· GenBank· DDBJ
ACA05936.1
EMBL· GenBank· DDBJ
Genomic DNA
CH471065
EMBL· GenBank· DDBJ
EAW67274.1
EMBL· GenBank· DDBJ
Genomic DNA
BC005380
EMBL· GenBank· DDBJ
AAH05380.1
EMBL· GenBank· DDBJ
mRNA
BC110286
EMBL· GenBank· DDBJ
AAI10287.1
EMBL· GenBank· DDBJ
mRNA

Genome annotation databases

Similar Proteins

Disclaimer

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