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    APOA5 apolipoprotein A5 [ Homo sapiens (human) ]

    Gene ID: 116519, updated on 13-Aug-2016
    Official Symbol
    APOA5provided by HGNC
    Official Full Name
    apolipoprotein A5provided by HGNC
    Primary source
    HGNC:HGNC:17288
    See related
    Ensembl:ENSG00000110243 HPRD:06966; MIM:606368; Vega:OTTHUMG00000046116
    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
    RAP3; APOAV
    Summary
    The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]
    Orthologs
    Location:
    11q23
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (116789370..116792420, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (116660086..116663136, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene BUD13 homolog Neighboring gene ZPR1 zinc finger Neighboring gene apolipoprotein A4 Neighboring gene apolipoprotein C3

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Familial hypertriglyceridemia
    MedGen: C0020480 OMIM: 145750 GeneReviews: Not available
    Compare labs
    Familial type 5 hyperlipoproteinemia
    MedGen: C0020481 OMIM: 144650 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
    NHGRI GWA Catalog
    A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
    NHGRI GWA Catalog
    A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population.
    NHGRI GWA Catalog
    A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.
    NHGRI GWA Catalog
    An atlas of genetic influences on human blood metabolites.
    NHGRI GWA Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    NHGRI GWA Catalog
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    NHGRI GWA Catalog
    Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.
    NHGRI GWA Catalog
    Discovery and refinement of loci associated with lipid levels.
    NHGRI GWA Catalog
    Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.
    NHGRI GWA Catalog
    Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.
    NHGRI GWA Catalog
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    NHGRI GWA Catalog
    Genome-wide association study identifies common variants associated with circulating vitamin E levels.
    NHGRI GWA Catalog
    Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.
    NHGRI GWA Catalog
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    NHGRI GWA Catalog
    Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
    NHGRI GWA Catalog
    Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men.
    NHGRI GWA Catalog
    Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
    NHGRI GWA Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    NHGRI GWA Catalog
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    NHGRI GWA Catalog
    Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
    NHGRI GWA Catalog
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    NHGRI GWA Catalog
    Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
    NHGRI GWA Catalog
    Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.
    NHGRI GWA Catalog
    Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    NHGRI GWA Catalog
    Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
    NHGRI GWA Catalog
    • Chylomicron-mediated lipid transport, organism-specific biosystem (from REACTOME)
      Chylomicron-mediated lipid transport, organism-specific biosystemChylomicrons transport triacylglycerol, phospholipid, and cholesterol derived from dietary lipid from the small intestine to other tissues of the body. Each chylomicron assembles around a single mole...
    • Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem (from REACTOME)
      Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystemThe reactions involved in the metabolism of fatty acids and of the triacylglycerols and ketone bodies derived from them form a closely interrelated, coordinately regulated module that plays a central...
    • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
      Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
    • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
      Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • PPAR signaling pathway, organism-specific biosystem (from KEGG)
      PPAR signaling pathway, organism-specific biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
    • PPAR signaling pathway, conserved biosystem (from KEGG)
      PPAR signaling pathway, conserved biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
    • PPARA activates gene expression, organism-specific biosystem (from REACTOME)
      PPARA activates gene expression, organism-specific biosystemThe set of genes regulated by PPAR-alpha is not fully known in humans, however many examples have been found in mice. Genes directly activated by PPAR-alpha contain peroxisome proliferator receptor e...
    • Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystem (from REACTOME)
      Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystemPeroxisome proliferator-activated receptor alpha (PPAR-alpha) is the major regulator of fatty acid oxidation in the liver. PPARalpha is also the target of fibrate drugs used to treat abnormal plasma ...
    • Statin Pathway, organism-specific biosystem (from WikiPathways)
      Statin Pathway, organism-specific biosystemStatins inhibit endogenous cholesterol production by competitive inhibition of HMG-CoA reductase (HMGCR), the enzyme that catalyzes conversion of HMG-CoA to mevalonate, an early rate-limiting step in...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ97995, MGC126836, MGC126838

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cholesterol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cholesterol transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enzyme activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enzyme binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    heparin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lipase activator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lipase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    lipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lipoprotein lipase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lipoprotein particle receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    low-density lipoprotein particle receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    phosphatidylcholine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylcholine-sterol O-acyltransferase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    phospholipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    acylglycerol homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acylglycerol homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cholesterol biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cholesterol efflux IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cholesterol homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    high-density lipoprotein particle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    lipid transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lipoprotein metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    neuron projection regeneration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    phosphatidylcholine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    phospholipid efflux IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of cholesterol esterification IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of fatty acid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of lipid catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of lipoprotein lipase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of receptor-mediated endocytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of triglyceride catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of very-low-density lipoprotein particle remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of intestinal cholesterol absorption IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    reverse cholesterol transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    tissue regeneration IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    triglyceride catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    triglyceride homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    triglyceride homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    triglyceride metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    triglyceride metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    triglyceride-rich lipoprotein particle remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    blood microparticle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    chylomicron IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    high-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT low-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    very-low-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    apolipoprotein A-V
    Names
    apo-AV
    apolipoprotein A-V precursor variant 3
    regeneration-associated protein 3

    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_015894.1 RefSeqGene

      Range
      5001..8051
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001166598.1NP_001160070.1  apolipoprotein A-V precursor

      See identical proteins and their annotated locations for NP_001160070.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AF202889, AP006216, DA641693
      Consensus CDS
      CCDS8376.2
      UniProtKB/Swiss-Prot
      Q6Q788
      UniProtKB/TrEMBL
      A0A0B4RUS7
      Conserved Domains (1) summary
      pfam01442
      Location:69247
      Apolipoprotein; Apolipoprotein A1/A4/E domain
    2. NM_052968.4NP_443200.2  apolipoprotein A-V precursor

      See identical proteins and their annotated locations for NP_443200.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AF202889, AP006216, BC101787, DA641693, DB184692
      Consensus CDS
      CCDS8376.2
      UniProtKB/Swiss-Prot
      Q6Q788
      UniProtKB/TrEMBL
      A0A0B4RUS7
      Related
      ENSP00000445002, ENST00000542499
      Conserved Domains (1) summary
      pfam01442
      Location:69247
      Apolipoprotein; Apolipoprotein A1/A4/E domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      116789370..116792420 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017169.1XP_016872658.1  

      Related
      ENSP00000227665, OTTHUMP00000043271, ENST00000227665, OTTHUMT00000106285
      Conserved Domains (1) summary
      pfam01442
      Location:69247
      Apolipoprotein; Apolipoprotein A1/A4/E domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      116544726..116547776 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)