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FLASH GENE
Symbol ACAT2 contributors: mct - updated : 31-08-2010
HGNC name acetyl-Coenzyme A acetyltransferase 2
HGNC id 94
Location 6q25.3      Physical location : 160.182.988 - 160.200.085
Synonym name
  • acetoacetyl coenzyme A thiolase
  • cytosolic acetoacetyl-CoA thiolase
  • acetyl-CoA transferase-like protein
  • Synonym symbol(s) ACTL
    EC.number 2.3.1.9
    DNA
    TYPE functioning gene
    SPECIAL FEATURE overlapping, gene in gene, opposite orientation
    text overlapping 3' region of TCP1 in opposite orientation
    STRUCTURE 17.10 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    MAPPING cloned Y linked N status confirmed
    Physical map
    TCTEL1 6q25.2-q25.3 t-complex-associated-testis-expressed 1-like 1 SYTL3 6q25.3 synaptotagmin-like 3 VIL2 6q25-q26 villin 2 (ezrin) LOC389439 6 LOC389439 LOC202459 6q25.3 similar to RIKEN cDNA 2310008M10 LOC389440 6 LOC389440 LOC346064 6q25.3 similar to SNARE protein Ykt6; YKT6, S. cerevisiae, homolog of RSHL2 6q25.3 radial spokehead-like 2 TAGAP 6q25.3 T-cell activation GTPase activating protein LOC389441 6 LOC389441 LOC389442 6 LOC389442 LOC389443 6 LOC389443 LOC389444 6 similar to frazzled CG8581-PA FNDC1 6q25 fibronectin type III domain containing 1 LOC389445 6 similar to 60S ribosomal protein L21 SOD2 6q25.2 superoxide dismutase 2, mitochondrial WTAP 6q25-q27 Wilms tumor 1 associated protein ACAT2 6q25.3-q26 acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase) TCP1 6q25.1-q25.2 t-complex 1 MRPL18 6q25.3 mitochondrial ribosomal protein L18 PNLDC1 6q25.3 poly(A)-specific ribonuclease (PARN)-like domain containing 1 MAS1 6q25.3-q26 MAS1 oncogene IGF2R 6q26-q27 insulin-like growth factor 2 receptor SLC22A1 6q27 solute carrier family 22 (organic cation transporter), member 1 SLC22A2 6q26-q27 solute carrier family 22 (organic cation transporter), member 2 SLC22A3 6q26-q27 solute carrier family 22 (extraneuronal monoamine transporter), member 3 APOAL 6q26-q27 apolipoprotein A-like LPA 6q26-q27 lipoprotein, Lp(a) PLG 6q26 plasminogen LOC389446 6 similar to apolipoprotein(a) (EC 3.4.21.-) - rhesus macaque (fragment) LOC389447 6 LOC389447
    regionally located overlapping in opposite orientation, the 3' region of t complex 1 (TCP1)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1567 - 397 - 2000 10846185
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestine   moderately
     liver   highly
     pharynx   moderately
     salivary gland   moderately
    Lymphoid/Immunetonsils   highly
    Nervousnerve   highly
    Reproductivemale systemprostate  moderately
    Skin/Tegumentskin   moderately
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveenterocyte
    Digestivehepatocyte
    cell lineage
    cell lines
    fluid/secretion lymph
    at STAGE
    physiological period fetal
    Text only in hepatocytes
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a thiolase domain
  • C-terminal end is the putative active site domain due to its high degree of sequence conservation from yeast to humans (Das 2008)
  • mono polymer homomer , tetramer
    HOMOLOGY
    interspecies homolog to rattus Acat2 (86.87 pc)
    homolog to murine Acat2 (87.12 pc)
    Homologene
    FAMILY
  • thiolase family
  • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • catalyzes the synthesis of cholesteryl esters from cholesterol and long-chain fatty acids (Pramfalk 2007)
  • acetoacetyl-CoA thiolase 2, playing a catalytic role in fetal liver and in intestinal enterocytes
  • promotes cholesterol absorption by the intestine and the secretion of cholesteryl ester-enriched very low density lipoproteins by the liver (Alger 2010)
  • plays a critical role in the production of atherogenic apoB-containing lipoproteins (Alger 2010)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding
  • cell & other
    REGULATION
    Other regulated by HNF4alpha (important regulator of the hepatocyte-specific expression of the human ACAT2 promoter) (Pramfalk 2009)
    transcriptionally regulated by cholesterol(Pramfalk 2007)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility coronary artey disease risk and high plasma lipid levels
    Variant & Polymorphism polymorphisms associated with CAD risk and plasma lipid levels
    Candidate gene
    Marker
    Therapy target
  • target for prevention and treatment of hypercholesterolemia and atherosclerosis
  • ACAT2-specific inhibitors may hold unexpected therapeutic potential to treat both atherosclerosis and non-alcoholic fatty liver disease (Alger 2010)
  • ANIMAL & CELL MODELS
    mice genetically lacking ACAT2 in both the intestine and the liver were dramatically protected against hepatic neutral lipid (TG and cholesteryl ester) accumulation, with the greatest differences occurring in situations where dietary cholesterol was elevated (Alger 2010)