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FLASH GENE
Symbol APOA1 contributors: mct/npt - updated : 04-04-2007
HGNC name apolipoprotein A-I
HGNC id 600
Corresponding disease
CCLD corneal opacities with HDL deficiency
NNHA non neuropathic hereditary systemic amyloidosis
Location 11q23.3      Physical location : 116.706.468 - 116.708.338
Synonym name
  • preproapolipoprotein
  • apolipoprotein A-I
  • Synonym symbol(s) MGC117399, Apo-AI
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    STRUCTURE 1.87 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map see HDLA@
    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 DSCAML1 11q23 Down syndrome cell adhesion molecule like 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 897 - 267 - -
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Endocrinepancreas   moderately
    Lymphoid/Immunespleen   highly
     thymus   moderately
    Reproductivemale systemseminal vesicles  moderately
    Visualeyeanterior segmentcornea  
    cell lineage
    cell lines
    fluid/secretion plasma
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    isoforms Precursor secreted as a proprotein and then cleaved by an uncharacterized metalloproteinase
    HOMOLOGY
    interspecies homolog to murine Apoa1 (65.91 pc)
    Homologene
    FAMILY
  • apolipoprotein A1/A4/E family
  • CATEGORY regulatory , transport carrier
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    basic FUNCTION
  • involved in the reverse transport of cholesterol from tissues to liver
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other cleaved by BMP1 (cleaves human proapolipoprotein A1 and regulates its activation for lipid binding) (Chau 2007)
    ASSOCIATED DISORDERS
    corresponding disease(s) NNHA , CCLD
    Susceptibility
  • to premature atherosclerosis and to low HDL-cholesterol
  • to premature coronary artery disease
  • Variant & Polymorphism other
  • deletion in exon 3 causing a frameshift and heterozygosity for a nucleotide substitution in exon 4 (T>G, L141R) increasing the risk of low HDL-cholesterol
  • mutation L178P leads to endothelial dysfunction, increased arterial wall thickness, and premature coronary artery disease
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS