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FLASH GENE
Symbol ACAT1 contributors: mct - updated : 01-09-2010
HGNC name acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase)
HGNC id 93
Corresponding disease
ACAT1D alpha-methylacetoacetic aciduria 1
Location 11q22.3      Physical location : 107.992.257 - 108.018.889
Synonym name
  • mitochondrial acetoacetyl coenzyme A thiolase
  • acetyl-Coenzyme A acetyltransferase 1
  • T2 enzyme
  • Synonym symbol(s) ACAT, D11S2051, MAT, THIL, T2
    EC.number 2.3.1.9
    DNA
    TYPE functioning gene
    STRUCTURE 26.63 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Physical map
    CASP4 11q22.2-q22.3 caspase 4, apoptosis-related cysteine protease CASP5 11q22.2-q22.3 caspase 5, apoptosis-related cysteine protease CASP1 11q22.2-q22.3 caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase) COP  clathrin-ordered protein ICEBERG 11q21-q22 ICEBERG caspase-1 inhibitor OR2AL1P 11q23.3 olfactory receptor, family 2, subfamily AL, member 1 pseudogene GRIA4 11q22.3 glutamate receptor, ionotrophic, AMPA 4 KIAA1826 11q22 KIAA1826 protein KBTBD3 11q22.3 kelch repeat and BTB (POZ) domain containing 3 AASDHPPT 11q22 aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase GUCY1A2 11q21-q22 guanylate cyclase 1, soluble, alpha 2 LOC341230 11q23.1 similar to argininosuccinate synthetase FLJ32343 11q23.1 hypothetical protein FLJ32343 LOC91801 11q23.1 hypothetical protein BC015183 DKFZp547C176 11q23.1 hypothetical protein DKFZp547C176 SLN 11q22-q23 sarcolipin LOC203930 11q23.1 sorting nexin 7 pseudogene SLC35F2 11q23.1 solute carrier family 35, member F2 RAB39 11q22-q23 RAB39, member RAS oncogene family CUL5 11q22-q23 cullin 5 ACAT1 11q22.3 acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase) NPAT 11q22-q23 nuclear protein, ataxia-telangiectasia locus ATM 11q22.3 ataxia telangiectasia mutated (includes complementation groups A, C and D) MGC33948 11q23.1 hypothetical protein MGC33948 MGC33424 11q23.1 hypothetical protein MGC33424 SLAC2-B 11q23.1 hypothetical protein MGC33424 DDX10 11q22-q23 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 HCP29 11q22.3 cytochrome c, somatic pseudogene LOC260340 11q23.1 processed pseudogene mtTFA 2 LOC390249 11 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) (Colon carcinoma laminin-binding protein) (NEM/1CHD4) (Multidrug resistance-associated protein MGr1-Ag) LOC390250 11 similar to RPB5_Human KIAA1726 11q23.1 KIAA1726 protein RDX 11q22.3-q23.1 radixin FDX1 11q22.3-q23.1 ferredoxin 1 ARHGAP20 11q23.2 Rho GTPase activating protein 20 LOC120364 11q23.2 similar to Hnrpa1 protein MGC50104 11q23.2 Similar to RIKEN cDNA 1810046K07 gene
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 2149 - 427 - -
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
    Digestiveintestinelarge intestinecolon moderately
     liver   lowly
     mouth   moderately
    Endocrineadrenal gland   moderately
    Reproductivefemale systembreastmammary gland moderately
    Respiratoryrespiratory tractlarynx  highly
    Urinarykidney   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Epithelialsecretoryglandularendocrine 
    Muscularstriatumskeletal highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestivehepatocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text hepatocytes
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two conserved cysteine residues in N and C terminal region, importante for tiolase activity
  • C-terminal end is the putative active site domain due to its high degree of sequence conservation from yeast to humans
  • mono polymer homomer , tetramer
    isoforms Precursor
    HOMOLOGY
    interspecies homolog to rattus Acat1 (84.20 pc)
    homolog to murine Acat1 (84.20 pc)
    Homologene
    FAMILY
  • thiolase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    basic FUNCTION
  • acetoacetyl-CoA thiolase 1, branched chain, isoleucine catabolism, fatty acid beta-oxidation
  • catalyzes the synthesis of cholesteryl esters from cholesterol and long-chain fatty acids
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid , lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ACAT1D
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS