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APOA1 apolipoprotein A1 [ Homo sapiens (human) ]

Gene ID: 335, updated on 25-Oct-2020

Summary

Official Symbol
APOA1provided by HGNC
Official Full Name
apolipoprotein A1provided by HGNC
Primary source
HGNC:HGNC:600
See related
Ensembl:ENSG00000118137 MIM:107680
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HPALP2; apo(a)
Summary
This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein. [provided by RefSeq, Dec 2015]
Expression
Biased expression in liver (RPKM 4032.4), small intestine (RPKM 1199.8) and 1 other tissue See more
Orthologs

Genomic context

See APOA1 in Genome Data Viewer
Location:
11q23.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (116835751..116837950, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (116706467..116708338, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene skeletal muscle cis-regulatory module in APOA4 and APOC3 intergenic region Neighboring gene APOA1 antisense RNA Neighboring gene apolipoprotein C3 Neighboring gene SIK family kinase 3 Neighboring gene RNY4 pseudogene 6 Neighboring gene ribosomal protein S27 pseudogene 19

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
GeneReviews: Not available
A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.
GeneReviews: Not available
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Common variants at 30 loci contribute to polygenic dyslipidemia.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Familial visceral amyloidosis, Ostertag type
MedGen: C0268389 OMIM: 105200 GeneReviews: Not available
Compare labs
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
GeneReviews: Not available
Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.
GeneReviews: Not available
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
GeneReviews: Not available
Genome-wide association study of hematological and biochemical traits in a Japanese population.
GeneReviews: Not available
Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.
GeneReviews: Not available
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
GeneReviews: Not available
HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2
MedGen: CN262194 OMIM: 618463 GeneReviews: Not available
not available
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
GeneReviews: Not available
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
GeneReviews: Not available
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
GeneReviews: Not available
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
GeneReviews: Not available
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
GeneReviews: Not available
Plasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis.
GeneReviews: Not available
Salt-inducible kinase 3, SIK3, is a new gene associated with hearing.
GeneReviews: Not available
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
GeneReviews: Not available
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Apolipoprotein A-1 competes with CD4 receptor binding to HIV-1 gp120 in human lymphocytes PubMed
Nef nef HIV-1 Nef impairs cholesterol efflux from macrophages and inhibits internalization of apolipoprotein A1 from the plasma membrane PubMed
nef Cav-1 interacts with HIV-1 Nef and restores Nef mediated impairment of apoA-I mediated cholesterol efflux in astrocyte derived glioblastoma cells and macrophages PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC117399

Gene Ontology Provided by GOA

Function Evidence Code Pubs
amyloid-beta binding IDA
Inferred from Direct Assay
more info
PubMed 
amyloid-beta binding IPI
Inferred from Physical Interaction
more info
PubMed 
apolipoprotein A-I receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
apolipoprotein receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
chemorepellent activity IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol binding IDA
Inferred from Direct Assay
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
heat shock protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
high-density lipoprotein particle binding IEA
Inferred from Electronic Annotation
more info
 
high-density lipoprotein particle receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
high-density lipoprotein particle receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to intermembrane cholesterol transfer activity IDA
Inferred from Direct Assay
more info
PubMed 
intermembrane cholesterol transfer activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
lipase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
phosphatidylcholine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylcholine-sterol O-acyltransferase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylcholine-sterol O-acyltransferase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipid binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
NOT ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
PubMed 
G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
adrenal gland development IEA
Inferred from Electronic Annotation
more info
 
animal organ regeneration IEA
Inferred from Electronic Annotation
more info
 
blood vessel endothelial cell migration IEA
Inferred from Electronic Annotation
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
cholesterol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol efflux IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol efflux IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol efflux IMP
Inferred from Mutant Phenotype
more info
PubMed 
cholesterol homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cholesterol import IMP
Inferred from Mutant Phenotype
more info
PubMed 
cholesterol metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
cholesterol transport IDA
Inferred from Direct Assay
more info
PubMed 
chylomicron assembly TAS
Traceable Author Statement
more info
 
chylomicron remodeling TAS
Traceable Author Statement
more info
 
endothelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
glucocorticoid metabolic process IEA
Inferred from Electronic Annotation
more info
 
high-density lipoprotein particle assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
high-density lipoprotein particle assembly IDA
Inferred from Direct Assay
more info
PubMed 
high-density lipoprotein particle assembly TAS
Traceable Author Statement
more info
 
high-density lipoprotein particle clearance IC
Inferred by Curator
more info
PubMed 
high-density lipoprotein particle clearance TAS
Traceable Author Statement
more info
 
high-density lipoprotein particle remodeling IC
Inferred by Curator
more info
PubMed 
high-density lipoprotein particle remodeling IDA
Inferred from Direct Assay
more info
PubMed 
high-density lipoprotein particle remodeling TAS
Traceable Author Statement
more info
 
integrin-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
intermembrane lipid transfer IEA
Inferred from Electronic Annotation
more info
 
lipid storage IEA
Inferred from Electronic Annotation
more info
 
lipoprotein biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
lipoprotein metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell adhesion molecule production IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cytokine production involved in immune response IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of heterotypic cell-cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of inflammatory response IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of interleukin-1 beta production IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of lipase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of response to cytokine stimulus IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of tumor necrosis factor-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of very-low-density lipoprotein particle remodeling IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-methionine modification IDA
Inferred from Direct Assay
more info
PubMed 
peripheral nervous system axon regeneration IEA
Inferred from Electronic Annotation
more info
 
phosphatidylcholine biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylcholine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipid efflux IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipid efflux IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
platelet degranulation TAS
Traceable Author Statement
more info
 
positive regulation of Rho protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cholesterol efflux IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cholesterol esterification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of cholesterol esterification IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of fatty acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of lipid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of lipoprotein lipase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of phagocytosis IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of phospholipid efflux IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of stress fiber assembly IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of substrate adhesion-dependent cell spreading IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of triglyceride catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein oxidation IDA
Inferred from Direct Assay
more info
PubMed 
protein stabilization IDA
Inferred from Direct Assay
more info
PubMed 
receptor-mediated endocytosis TAS
Traceable Author Statement
more info
 
regulation of Cdc42 protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
regulation of intestinal cholesterol absorption IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of lipid metabolic process TAS
Traceable Author Statement
more info
 
regulation of protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to estrogen IEA
Inferred from Electronic Annotation
more info
 
response to nutrient IEA
Inferred from Electronic Annotation
more info
 
retinoid metabolic process TAS
Traceable Author Statement
more info
 
reverse cholesterol transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
reverse cholesterol transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane transport TAS
Traceable Author Statement
more info
 
triglyceride homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
triglyceride homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
very-low-density lipoprotein particle remodeling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vitamin transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
blood microparticle HDA PubMed 
cell surface IEA
Inferred from Electronic Annotation
more info
 
chylomicron IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
collagen-containing extracellular matrix HDA PubMed 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
discoidal high-density lipoprotein particle IEA
Inferred from Electronic Annotation
more info
 
early endosome TAS
Traceable Author Statement
more info
 
endocytic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
endocytic vesicle lumen TAS
Traceable Author Statement
more info
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
extracellular vesicle HDA PubMed 
high-density lipoprotein particle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
high-density lipoprotein particle IDA
Inferred from Direct Assay
more info
PubMed 
high-density lipoprotein particle TAS
Traceable Author Statement
more info
PubMed 
intermediate-density lipoprotein particle IEA
Inferred from Electronic Annotation
more info
 
low-density lipoprotein particle IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
secretory granule lumen TAS
Traceable Author Statement
more info
 
spherical high-density lipoprotein particle IDA
Inferred from Direct Assay
more info
PubMed 
very-low-density lipoprotein particle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
apolipoprotein A-I
Names
apo-AI
epididymis secretory sperm binding protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012021.1 RefSeqGene

    Range
    5001..6870
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_767

mRNA and Protein(s)

  1. NM_000039.3NP_000030.1  apolipoprotein A-I isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_000030.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform. Variants 1-3 encode the same isoform (1).
    Source sequence(s)
    X02162
    Consensus CDS
    CCDS8378.1
    UniProtKB/Swiss-Prot
    P02647
    UniProtKB/TrEMBL
    A0A024R3E3
    Related
    ENSP00000236850.3, ENST00000236850.4
    Conserved Domains (1) summary
    pfam01442
    Location:74258
    Apolipoprotein; Apolipoprotein A1/A4/E domain
  2. NM_001318017.2NP_001304946.1  apolipoprotein A-I isoform 1 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-3 encode the same isoform (1).
    Source sequence(s)
    AL557908, AP006216, X02162
    Consensus CDS
    CCDS8378.1
    UniProtKB/Swiss-Prot
    P02647
    UniProtKB/TrEMBL
    A0A024R3E3
    Related
    ENSP00000364469.1, ENST00000375320.5
    Conserved Domains (1) summary
    pfam01442
    Location:74258
    Apolipoprotein; Apolipoprotein A1/A4/E domain
  3. NM_001318018.2NP_001304947.1  apolipoprotein A-I isoform 1 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-3 encode the same isoform (1).
    Source sequence(s)
    AL531353, AP006216, T68127, X02162
    Consensus CDS
    CCDS8378.1
    UniProtKB/Swiss-Prot
    P02647
    UniProtKB/TrEMBL
    A0A024R3E3
    Related
    ENSP00000352471.2, ENST00000359492.6
    Conserved Domains (1) summary
    pfam01442
    Location:74258
    Apolipoprotein; Apolipoprotein A1/A4/E domain
  4. NM_001318021.1NP_001304950.1  apolipoprotein A-I isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream translation start site compared to variant 1. The encoded isoform (2) has a shorter N-terminus and lacks a predicted signal peptide compared to isoform 1.
    Source sequence(s)
    BU600916, CD558050, X02162
    UniProtKB/Swiss-Prot
    P02647
    Conserved Domains (1) summary
    pfam01442
    Location:1133
    Apolipoprotein; Apolipoprotein A1/A4/E domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    116835751..116837950 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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