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    APOA5 apolipoprotein A5 [ Homo sapiens (human) ]

    Gene ID: 116519, updated on 10-Dec-2024

    Summary

    Official Symbol
    APOA5provided by HGNC
    Official Full Name
    apolipoprotein A5provided by HGNC
    Primary source
    HGNC:HGNC:17288
    See related
    Ensembl:ENSG00000110243 MIM:606368; AllianceGenome:HGNC:17288
    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]
    Expression
    Restricted expression toward liver (RPKM 62.5) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See APOA5 in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (116789367..116792420, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (116803991..116807044, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (116660083..116663136, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene BUD13 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5555 Neighboring gene BUD13 divergent transcript Neighboring gene ZPR1 zinc finger Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3924 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:116658726-116658949 Neighboring gene enhancer-blocking element 11-1-2 overlapping APOA5 Neighboring gene lncRNA regulator of hepatic lineages 1 Neighboring gene apolipoprotein A4

    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 type 5 hyperlipoproteinemia
    MedGen: C0020481 OMIM: 144650 GeneReviews: Not available
    not available
    Hypertriglyceridemia 1
    MedGen: C5444012 OMIM: 145750 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
    EBI GWAS Catalog
    A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
    EBI GWAS Catalog
    A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population.
    EBI GWAS Catalog
    A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.
    EBI GWAS Catalog
    An atlas of genetic influences on human blood metabolites.
    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
    Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.
    EBI GWAS Catalog
    Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.
    EBI GWAS Catalog
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    EBI GWAS Catalog
    Genome-wide association study identifies common variants associated with circulating vitamin E levels.
    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 identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
    EBI GWAS Catalog
    Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men.
    EBI GWAS Catalog
    Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
    EBI GWAS Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    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
    Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.
    EBI GWAS Catalog
    Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    EBI GWAS Catalog
    Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ97995, MGC126836, MGC126838

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cholesterol transfer activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables enzyme activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables enzyme binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables heparin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables lipase activator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables lipase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables lipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables lipoprotein lipase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables lipoprotein particle receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables low-density lipoprotein particle receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables phosphatidylcholine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylcholine-sterol O-acyltransferase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phospholipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in acylglycerol homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in acylglycerol homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in acylglycerol homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cholesterol efflux IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cholesterol homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cholesterol metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in lipid transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in lipoprotein metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phospholipid efflux IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of fatty acid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of lipid catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of lipoprotein lipase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of receptor-mediated endocytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of triglyceride catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of very-low-density lipoprotein particle remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in tissue regeneration IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in triglyceride catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in triglyceride homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in triglyceride homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in triglyceride metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in triglyceride metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in triglyceride-rich lipoprotein particle remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    part_of chylomicron IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of chylomicron IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in extracellular vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of high-density lipoprotein particle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of high-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in late endosome IEA
    Inferred from Electronic Annotation
    more info
     
    NOT part_of low-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of very-low-density lipoprotein particle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of very-low-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    apolipoprotein A-V
    Names
    apo-AV
    regeneration-associated protein 3

    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_015894.2 RefSeqGene

      Range
      5542..8054
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001166598.2NP_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)
      AP006216
      Consensus CDS
      CCDS8376.2
      UniProtKB/Swiss-Prot
      B0YIV9, Q3MIK6, Q6Q788, Q6UWK9, Q9UBJ3
      UniProtKB/TrEMBL
      A0A0B4RUS7, A8K9M4
      Related
      ENSP00000399701.2, ENST00000433069.2
      Conserved Domains (1) summary
      pfam01442
      Location:72262
      Apolipoprotein; Apolipoprotein A1/A4/E domain
    2. NM_001371904.1NP_001358833.1  apolipoprotein A-V precursor

      Status: REVIEWED

      Source sequence(s)
      AP006216
      Consensus CDS
      CCDS8376.2
      UniProtKB/Swiss-Prot
      B0YIV9, Q3MIK6, Q6Q788, Q6UWK9, Q9UBJ3
      UniProtKB/TrEMBL
      A0A0B4RUS7, A8K9M4
      Related
      ENSP00000227665.4, ENST00000227665.9
      Conserved Domains (1) summary
      pfam01442
      Location:72262
      Apolipoprotein; Apolipoprotein A1/A4/E domain
    3. NM_052968.5NP_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
      B0YIV9, Q3MIK6, Q6Q788, Q6UWK9, Q9UBJ3
      UniProtKB/TrEMBL
      A0A0B4RUS7, A8K9M4
      Related
      ENSP00000445002.1, ENST00000542499.5
      Conserved Domains (1) summary
      pfam01442
      Location:72262
      Apolipoprotein; Apolipoprotein A1/A4/E domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      116789367..116792420 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      116803991..116807044 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)