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    APOA1 apolipoprotein A1 [ Homo sapiens (human) ]

    Gene ID: 335, updated on 9-Jan-2022

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See APOA1 in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (116835751..116837950, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (116706467..116708666, 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
    Familial visceral amyloidosis, Ostertag type
    MedGen: C0268389 OMIM: 105200 GeneReviews: Not available
    Compare labs
    Hypoalphalipoproteinemia, primary, 2
    MedGen: CN294352 OMIM: 618463 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
    EBI GWAS Catalog
    A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.
    EBI GWAS Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    EBI GWAS Catalog
    Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    EBI GWAS Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.
    EBI GWAS Catalog
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    EBI GWAS Catalog
    Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
    EBI GWAS Catalog
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    EBI GWAS Catalog
    Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
    EBI GWAS Catalog
    Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
    EBI GWAS Catalog
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    EBI GWAS Catalog
    Plasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis.
    EBI GWAS Catalog
    Salt-inducible kinase 3, SIK3, is a new gene associated with hearing.
    EBI GWAS Catalog
    Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
    EBI GWAS Catalog
    Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
    EBI GWAS Catalog

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

    NEW Try the new Transcript table

    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, ENST00000236850.5
      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 109.20211119

    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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