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FLASH GENE
Symbol APOC3 contributors: mct - updated : 21-03-3012
HGNC name apolipoprotein C-III
HGNC id 610
Corresponding disease
APOC3 hyperalphalipoproteinemia with APOC3 deficiency
Location 11q23.3      Physical location : 116.700.623 - 116.703.787
Synonym symbol(s) MGC150353, APOCIII, HALP2
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
STRUCTURE 3.16 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Map cen - DRD2 - D11S386 - ZBTB16 - D11S938 ,D11S1327 - D11S486 - D11S1256 - D11S144 - D11S1340 , APOC3 APOC3 - D11S943E - D11S939 - D11S29 - D11S1356 - D11S1341 - CD3D - MLL - qter
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 - 533 8.76 99 - 2008 19074352
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   highly
Lymphoid/Immunespleen   highly
Reproductivefemale systemuteruscervix moderately
Visualeyeanterior segmentcornea lowly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal lowly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated GlycoP
HOMOLOGY
interspecies homolog to murine Apoc3 (62.89 pc)
Homologene
FAMILY
  • apolipoprotein C3 family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • inhibiting lipoprotein lipase and hepatic lipase and decreasing the uptake of lymph chylomicrons by hepatic cells
  • contributor to HDL variation
  • directly activates human monocytes, at least partly through a TLR2-dependent pathway
  • lipoprotein lipase inhibitor and a key regulator of the metabolism of triglyceride-rich lipoproteins, that is mainly synthesized in liver and intestine
  • may play a specific role in lipid storage and mobilization in adipocytes, non-lipoprotein-secreting cells
  • central role in metabolic defects leading to hypertriglyceridemia
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RXRA solely regulates APOC3 gene expression
  • PPARGC1B regulates plasma triglyceride metabolism through stimulating apolipoprotein C3 (APOC3) expression and elevating APOC3 levels in circulation
  • MDM2 is a novel activator of APOC3 promoter which is antagonized by TP53 and NR0B2 inhibition
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) APOC3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    null mutation confers a favorable lipid profile and apparent cardioprotection and does not result in any obvious detrimental effect (Pollin 2008)
    constitutional     --over  
    increased in type 1 diabetic patients
    Susceptibility
  • to higher triglyceride dosage and to low HDL-cholesterol
  • to type 1 diabetes
  • to acute myocardial infarction in diabetic patients
  • Variant & Polymorphism SNP , other
  • C1100T increase HDL and protecting against coronary artery disease
  • haplotype increasing thre risk of type 1 diabetes
  • association of polymorphism with acute myocardial infarction in diabetic patients
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cardiovascularatheromacardiac
    therapies aimed specifically at down-regulating APOC3 expression will be clinically efficacious and safe in reducing the morbidity and mortality associated with coronary artery disease
    diabetetype 1 
    target for the treatment of type 1 diabetes
    ANIMAL & CELL MODELS