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FLASH GENE
Symbol APOA5 contributors: mct - updated : 11-12-2007
HGNC name apolipoprotein A-V
HGNC id 17288
Corresponding disease
HLP5 hyperlipoproteinemia type 5
Location 11q23      Physical location : 116.660.086 - 116.663.136
Synonym name
  • regeneration-associated protein 3
  • apolipoprotein A5
  • Synonym symbol(s) APOAV, RAP3, MGC126836, MGC126838
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text
  • component of the HDLA@ (see symbol)
  • proximal to the apolipoprotein gene cluster on chromosome 11q23
  • STRUCTURE 2.00 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (CAAT box)
    cytosine-phosphate-guanine/HTF
    Binding site
    text structure
  • 5' flanking genomic region, which precedes the Sirt1 open reading frame, revealed a CCAAT-box and a number of NF-kappaB and GATA transcription factor binding sites in addition to a small 350 bp CpG island
  • MAPPING cloned Y linked N status provisional
    Physical map
    MGC13125 11q23.3 hypothetical protein MGC13125 ZNF259 11q23.3 zinc finger protein 259 APOA5 11q23 apolipoprotein A-V APOA4 11q23.3 apolipoprotein A-IV APOC3 11q23.1-q23.2 apolipoprotein C-III APOA1 11q23.3 apolipoprotein A-I KIAA0999 11q23.3 apolipoprotein A-I LOC196266 11q23.3 similar to Proprotein convertase subtilisin/kexin type 7 precursor (Proprotein convertase PC7) (Subtilisin/kexin-like protease PC7) (Prohormone convertase PC7) (PC8) (hPC8) (Lymphoma proprotein convertase) PAFAH1B2 11q23 platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa CGI-40 11q23.3 CGI-40 protein TAGLN 11q23.2 transgelin PCSK7 11q23 proprotein convertase subtilisin/kexin type 7 DKFZp547C195 11q23.3 hypothetical protein DKFZp547C195 BACE 11q23.2-q23.3 beta-site APP-cleaving enzyme KIAA1052 11q23.3 KIAA1052 protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 polyA site 1890 - 363 - Van der Vliet, Rennacchio, Wang (2007)
    - polyA site 1340 - 363 liver -
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Respiratorylung    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    a N terminal signal peptide
    secondary structure several amphipatic helical domains
    isoforms Precursor
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    text plasma protein
    basic FUNCTION
  • important determinant of plasma triglycride level, that
  • may function intracellularly to modulate hepatic VLDL synthesis and/or secretion
  • play an important role in determining plasma triglyceride concentrations
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HLP5
    Susceptibility
  • to coronary artery disease
  • to higher plama triglycerides
  • to familial combined hyperlipidemia
  • to variation of BMI and obesity risk in both men and women
  • Variant & Polymorphism SNP
  • SNP1, SNP2, SNP3, polymorphism T1131>C and S19>W variant, c.553G>T, associated with hypertriglyceridemia
  • S19W polymorphism is likely to be functional and explain the strong association of this variant with plasma triglycerides
  • variant c.553G > T in the apolipoprotein A5 gene is associated with an increased risk of coronary artery disease and altered triglyceride levels
  • 1131T>C SNP, modulates the effect of fat intake on BMI and obesity risk in both men and women
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS