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ACAT1 Gene

protein-coding   GIFtS: 71
GCID: GC11P107992

Acetyl-CoA Acetyltransferase 1

(Previous name: acetyl-Coenzyme A acetyltransferase 1)
(Previous symbol: ACAT)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Acetyl-CoA Acetyltransferase 11 2     T22 3
ACAT1 2 3     EC 2.3.1.93 8
Acetyl-Coenzyme A Acetyltransferase 11 2     THIL2
Acetoacetyl Coenzyme A Thiolase1 2     Acetyl-CoA Acetyltransferase, Mitochondrial2
Acetoacetyl-CoA Thiolase2 3     Mitochondrial Acetoacetyl-CoA Thiolase2
MAT2 3     EC 2.3.18

External Ids:    HGNC: 931   Entrez Gene: 382   Ensembl: ENSG000000752397   OMIM: 6078095   UniProtKB: P247523   

Export aliases for ACAT1 gene to outside databases

Previous GC identifers: GC11P110186 GC11P109348 GC11P108026 GC11P107529 GC11P107499 GC11P103917


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ACAT1 Gene:
This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA
from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn
error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid,
2-methylacetoacetic acid, tiglylglycine, and butanone. (provided by RefSeq, Feb 2009)

GeneCards Summary for ACAT1 Gene:
ACAT1 (acetyl-CoA acetyltransferase 1) is a protein-coding gene. Diseases associated with ACAT1 include ketothiolase deficiency, and lipid metabolism disorder. GO annotations related to this gene include coenzyme binding and protein homodimerization activity. An important paralog of this gene is HADHB.

UniProtKB/Swiss-Prot: THIL_HUMAN, P24752
Function: Plays a major role in ketone body metabolism

Gene Wiki entry for ACAT1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NT_033899.9  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACAT1 gene promoter:
         GR   GR-beta   Cdc5   FOXL1   AREB6   COMP1   FOXO1a   GR-alpha   Hlf   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACAT1 promoter sequence
   Search Chromatin IP Primers for ACAT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACAT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q22.3   Ensembl cytogenetic band:  11q22.3   HGNC cytogenetic band: 11q22.3

ACAT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACAT1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P107992:  view genomic region     (about GC identifiers)

Start:
107,992,243 bp from pter      End:
108,018,895 bp from pter
Size:
26,653 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: THIL_HUMAN, P24752 (See protein sequence)
Recommended Name: Acetyl-CoA acetyltransferase, mitochondrial precursor  
Size: 427 amino acids; 45200 Da
Subunit: Homotetramer
Selected PDB 3D structures from and Proteopedia for ACAT1 (see all 7):
2F2S (3D)        2IB7 (3D)        2IB8 (3D)        2IB9 (3D)        2IBU (3D)        2IBW (3D)    
Secondary accessions: B2R6H1

Explore the universe of human proteins at neXtProt for ACAT1: NX_P24752

Explore proteomics data for ACAT1 at MOPED

Post-translational modifications: 

  • Succinylation at Lys-268, adjacent to a coenzyme A binding site. Desuccinylated by SIRT5 (By similarity)1
  • Ubiquitination2 at Lys174, Lys181
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ACAT1 (P24752) (see all 14)
     TKLGSIA  RTPIGSF  GTVTAAN  CNGGGGAS 


    See ACAT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000010.1  
    ENSEMBL proteins: 
     ENSP00000265838   ENSP00000299355   ENSP00000435965   ENSP00000433568   ENSP00000436096  
    Reactome Protein details: P24752

    ACAT1 Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
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    Novus Biologicals ACAT1 Proteins
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    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for ACAT1
    Cloud-Clone Corp. Proteins for ACAT1

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    ACAT1 Assay Products:

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    Cloud-Clone Corp. CLIAs for ACAT1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 8):
     IPR020610 Thiolase_AS
     IPR020613 Thiolase_CS
     IPR016038 Thiolase-like_subgr
     IPR020615 Thiolase_acyl_enz_int_AS
     IPR002155 Thiolase

    Graphical View of Domain Structure for InterPro Entry P24752

    ProtoNet protein and cluster: P24752

    1 Blocks protein domain: IPB002155 Thiolase

    UniProtKB/Swiss-Prot: THIL_HUMAN, P24752
    Similarity: Belongs to the thiolase family


    ACAT1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: THIL_HUMAN, P24752
    Function: Plays a major role in ketone body metabolism
    Catalytic activity: 2 acetyl-CoA = CoA + acetoacetyl-CoA
    Enzyme regulation: Activated by potassium ions, but not sodium ions
    Biophysicochemical properties: Kinetic parameters: KM=4 uM for acetoacetyl coenzyme A; KM=20 uM for coenzyme A;
    KM=8 uM for 2-methylacetoacetyl coenzyme A; KM=508 uM for acetyl coenzyme A;

         Genatlas biochemistry entry for ACAT1:
    acetoacetyl-CoA thiolase 1,branched chain,mitochondrial,isoleucine catabolism,fatty acid beta-oxidation

         Enzyme Numbers (IUBMB): EC 2.3.1.91 2 EC 2.3.12

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0003985acetyl-CoA C-acetyltransferase activity EXP--
    GO:0016747transferase activity, transferring acyl groups other than amino-acyl groups ----
    GO:0019899enzyme binding IEA--
    GO:0042803protein homodimerization activity IEA--
         
    ACAT1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ACAT1:
     Upregulation of Wnt/beta-caten 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACAT1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ACAT1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACAT1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACAT1

    miRNA
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    miRTarBase miRNAs that target ACAT1:
    hsa-mir-23b-3p (MIRT023466), hsa-mir-21-5p (MIRT030744), hsa-mir-1260b (MIRT052670)

    Block miRNA regulation of human, mouse, rat ACAT1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate ACAT1:
    hsa-miR-298 hsa-miR-3662
    SwitchGear 3'UTR luciferase reporter plasmidACAT1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ACAT1
    Predesigned siRNA for gene silencing in human, mouse, rat ACAT1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for ACAT1

    Clone
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    OriGene clones in human, mouse for ACAT1 (see all 7)
    OriGene ORF clones in mouse, rat for ACAT1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ACAT1 (NM_000019)
    Sino Biological Human cDNA Clone for ACAT1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACAT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACAT1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACAT1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    THIL_HUMAN, P24752: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    peroxisome2
    endoplasmic reticulum1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005759mitochondrial matrix TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    ACAT1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ACAT1 About   (see all 16)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Synthesis and Degradation of Ketone Bodies
    Synthesis and Degradation of Ketone Bodies0.43
    Ketone body metabolism0.00
    ketolysis0.43
    Synthesis of Ketone Bodies0.00
    Utilization of Ketone Bodies0.00
    2superpathway of cholesterol biosynthesis
    superpathway of cholesterol biosynthesis0.85
    mevalonate pathway I0.00
    Terpenoid backbone biosynthesis0.34
    superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)0.00
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    4Valine, leucine and isoleucine degradation
    Valine, leucine and isoleucine degradation0.31
    isoleucine degradation I0.00
    Propanoate metabolism0.31
    5Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    ketogenesis0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for ACAT1
        Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF)

    Selected BioSystems Pathways for ACAT1 (see all 13)
        Synthesis and Degradation of Ketone Bodies
    isoleucine degradation I
    glutaryl-CoA degradation
    Fatty Acid Beta Oxidation
    ketogenesis


    3 Reactome Pathways for ACAT1
        Synthesis of Ketone Bodies
    Utilization of Ketone Bodies
    Branched-chain amino acid catabolism


    Selected Kegg Pathways  (Kegg details for ACAT1) (see all 13):
        Fatty acid degradation
    Synthesis and degradation of ketone bodies
    Valine, leucine and isoleucine degradation
    Lysine degradation
    Tryptophan metabolism


    ACAT1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACAT1: 
              Fatty Acid Metabolism in human mouse rat
              Amino Acid Metabolism I in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ACAT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ACAT1 (P247523 ENSP000002658384) via UniProtKB, MINT, STRING, and/or I2D (see all 159)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206435P305043I2D: score=1 
    ENSG00000206452P305043I2D: score=1 
    HLA-CP305043I2D: score=1 
    RHOAP615863, ENSP000004001754I2D: score=4 STRING: ENSP00000400175
    ACOX1Q150673, ENSP000002932174I2D: score=1 STRING: ENSP00000293217
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001889liver development IEA--
    GO:0007420brain development IEA--
    GO:0008152metabolic process ----
    GO:0009083branched-chain amino acid catabolic process TAS--
    GO:0009725response to hormone IEA--

    ACAT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ACAT1 (THIL)

    4 HMDB Compounds for ACAT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Oxohexanoyl-CoA3-Oxohexanoyl-Coenzyme A (see all 6)19774-86-8--
    Acetoacetyl-CoA3-acetoacetyl-CoA (see all 9)1420-36-6--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--

    1 DrugBank Compound for ACAT1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    SulfasalazineSulfasalazin (see all 2)599-79-1targetinhibitor17139284 1357724 17016423

    5 Novoseek inferred chemical compound relationships for ACAT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acetoacetyl coa 98.2 65 17371050 (4), 15128923 (3), 8099727 (2), 17236799 (2) (see all 41)
    isoleucine 72.3 9 17236799 (1), 11914035 (1), 15128923 (1), 20156697 (1) (see all 9)
    acetyl-coa 44.7 4 20046049 (1), 11988101 (1), 16950638 (1)
    potassium 18.3 6 17371050 (2), 15128923 (1), 1349518 (1), 8725269 (1)
    cholesterol 0 3 9469584 (2)



    ACAT1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ACAT1 gene: 
    NM_000019.3  

    Unigene Cluster for ACAT1:

    Acetyl-CoA acetyltransferase 1
    Hs.232375  [show with all ESTs]
    Unigene Representative Sequence: NM_000019
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265838(uc001pjy.3) ENST00000524833 ENST00000299355(uc001pjw.1)
    ENST00000531813(uc001pjx.3) ENST00000531853 ENST00000527942 ENST00000526119
    ENST00000528370 ENST00000534773 ENST00000532792 ENST00000533610 ENST00000533597


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    2 qRT-PCR Assays for microRNAs that regulate ACAT1:
    hsa-miR-298 hsa-miR-3662
    SwitchGear 3'UTR luciferase reporter plasmidACAT1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: ACAT1 (NM_000019)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACAT1
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      QuantiTect SYBR Green Assays in human, mouse, rat ACAT1
      QuantiFast Probe-based Assays in human, mouse, rat ACAT1

    Additional mRNA sequence: 

    AF086561.1 AK312574.1 BC010942.1 D90228.1 S70578.1 

    9 DOTS entries:

    DT.95082281  DT.209848  DT.40305180  DT.75122408  DT.75109020  DT.92033596  DT.120707187  DT.40105792 
    DT.100014180 

    Selected AceView cDNA sequences (see all 84):

    CB158309 AA010069 AL041431 BM722006 AW297552 BP360666 BM789408 AV708226 
    BF528753 AU117943 CA776724 AI139512 F36678 AU144630 T85734 AU142655 
    AI202672 F28477 NM_000019 CA776496 T28635 BP375630 F27643 F28457 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ACAT1 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15
    SP1:                    -     -                       -           -           -                       -           -               
    SP2:                    -     -                       -     -     -           -                                                   
    SP3:                    -     -                       -                                                                           
    SP4:                                                                                                  -                           
    SP5:                    -     -                                                                                                   


    ECgene alternative splicing isoforms for ACAT1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ACAT1 expression in normal human tissues (normalized intensities)      ACAT1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTAATTCAGA
    ACAT1 Expression
    About this image


    ACAT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             492B4
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    ACAT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACAT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.232375
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACAT1: 
              Fatty Acid Metabolism in human mouse rat
              Amino Acid Metabolism I in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ACAT1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACAT1
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    QuantiFast Probe-based Assays in human, mouse, rat ACAT1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACAT1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ACAT1 gene from Selected species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acat11 , 5 acetyl-Coenzyme A acetyltransferase 11, 5 85.69(n)1
    84.2(a)1
      9 (29.12 cM)5
    1104461  NM_144784.31  NP_659033.11 
     535805225 
    chicken
    (Gallus gallus)
    Aves ACAT11 acetyl-CoA acetyltransferase 1 76.09(n)
    78.86(a)
      418968  NM_001277779.1  NP_001264708.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACAT16
    acetyl-CoA acetyltransferase 1
    78(a)
    1 ↔ 1
    GL343659.1(244804-261358)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.255952 Xenopus laevis transcribed sequence with moderate similarity more 72.89(n)    CA983451.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb49g012 Transcribed sequence with moderate similarity to protein more 75.34(n)    57056184 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG109321 , 3 acetyl-CoA C-acetyltransferase3
    CG109321
    65(a)3
    59.51(n)1
    65.68(a)1
      7C13
    316951  NM_132186.11  NP_572414.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T02G5.83
    kat-11
    acetoacetyl-C0A thiolase3
    kat-11
    54(a)
    (best of 3)3
    57.43(n)1
    55.18(a)1
      II(7073747-7075341)3
    1741611  NM_063054.61  NP_495455.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG10(YPL028W)4
    ERG101
    Acetyl-CoA C-acetyltransferase (acetoacetyl-CoA thiolase), more4
    ERG101
    55.44(n)1
    50(a)1
      16(498096-499292)4
    8560791, 4  NP_015297.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ACAT21 ACAT2 56.79(n)
    52.32(a)
      834876  NM_124198.3  NP_568694.2 
    rice
    (Oryza sativa)
    Liliopsida Os.125792 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.97(n)    AK059654.1 


    ENSEMBL Gene Tree for ACAT1 (if available)
    TreeFam Gene Tree for ACAT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACAT1 gene
    HADHB2  ACAA22  ACAT22  
    4 SIMAP similar genes for ACAT1 using alignment to 6 protein entries:     THIL_HUMAN (see all proteins):
    ACAT2    ACAA2    ACAA1    HADHB

    ACAT1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ACAT1 (see all 656)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0075074
    3-ketothiolase deficiency (3KTD)4--see VAR_0075072 A T mis40--------
    VAR_0075044
    3-ketothiolase deficiency (3KTD)4--see VAR_0075042 I T mis40--------
    VAR_0075054
    3-ketothiolase deficiency (3KTD)4--see VAR_0075052 A P mis40--------
    VAR_0075004
    3-ketothiolase deficiency (3KTD)4--see VAR_0075002 N D mis40--------
    VAR_0075024
    3-ketothiolase deficiency (3KTD)4--see VAR_0075022 T M mis40--------
    VAR_0074994
    3-ketothiolase deficiency (3KTD)4--see VAR_0074992 G A mis40--------
    VAR_0075064
    3-ketothiolase deficiency (3KTD)4--see VAR_0075062 G V mis40--------
    VAR_0074984
    3-ketothiolase deficiency (3KTD)4--see VAR_0074982 N S mis40--------
    VAR_0075014
    3-ketothiolase deficiency (3KTD)4--see VAR_0075012 G R mis40--------
    VAR_0075034
    3-ketothiolase deficiency (3KTD)4--see VAR_0075032 A P mis40--------

    HapMap Linkage Disequilibrium report for ACAT1 (107992243 - 108018895 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ACAT1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv480CNV Insertion18451855

    Human Gene Mutation Database (HGMD): ACAT1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACAT1
    DNA2.0 Custom Variant and Variant Library Synthesis for ACAT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607809   
    OMIM disorders: 203750  
    UniProtKB/Swiss-Prot: THIL_HUMAN, P24752
  • 3-ketothiolase deficiency (3KTD) [MIM:203750]: An inborn error of isoleucine catabolism characterized by
    intermittent ketoacidotic attacks associated with unconsciousness. Some patients die during an attack or are
    mentally retarded. Urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, triglylglycine,
    butanone is increased. It seems likely that the severity of this disease correlates better with the environmental
    or acquired factors than with the ACAT1 genotype. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for ACAT1 (see all 32):    About MalaCards
    ketothiolase deficiency    lipid metabolism disorder    thiolase deficiency    beta-ketothiolase deficiency
    organic acidemia    the organic acidemias: an    sitosterolemia    ataxia telangiectasia
    metabolic acidosis    spinal muscular atrophy    muscular atrophy    hypertriglyceridemia
    ataxia    hypercholesterolemia    dementia    cervical cancer
    cervicitis    tonsillitis    mental retardation    hypertension

    1 disease from the University of Copenhagen DISEASES database for ACAT1:
    beta-ketothiolase deficiency

    ACAT1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    4 Novoseek inferred disease relationships for ACAT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    beta-ketothiolase deficiency 98.7 32 14518824 (5), 15128923 (4), 20156697 (4), 7749408 (3) (see all 18)
    ketoacidosis 51.9 1 16950638 (1)
    ataxia telangiectasia 39.3 1 8786135 (1)
    metabolic disorder 30.9 3 20046049 (1), 9001814 (1), 16935016 (1)

    Genatlas disease: ACAT1
    beta-ketothiolase deficiency,recurrent acidosis,ketosis with organic aciduria

    Genetic Association Database (GAD): ACAT1
    Human Genome Epidemiology (HuGE) Navigator: ACAT1 (20 documents)

    Export disorders for ACAT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ACAT1 gene, integrated from 10 sources (see all 109):
    (articles sorted by number of sources associating them with ACAT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3- ketothiolase deficiency. (PubMed id 1979337)1, 2, 3, 9 Fukao T....Hashimoto T. (J. Clin. Invest. 1990)
    2. A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. (PubMed id 20156697)1, 4, 9 Fukao T....Kondo N. (Mol. Genet. Metab. 2010)
    3. Crystallographic and kinetic studies of human mitochondrial acetoacetyl-CoA thiolase: the importance of potassium and chloride ions for its structure and function. (PubMed id 17371050)1, 2, 9 Haapalainen A.M....Wierenga R.K. (Biochemistry 2007)
    4. Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency. (PubMed id 9744475)1, 2, 9 Fukao T.... Kondo N. (Hum. Mutat. 1998)
    5. Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency. (PubMed id 1715688)1, 2, 9 Fukao T.... Hashimoto T. (Biochem. Biophys. Res. Commun. 1991)
    6. Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency. (PubMed id 1346617)1, 2, 9 Fukao T....Hashimoto T. (J. Clin. Invest. 1992)
    7. Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients. (PubMed id 7728148)1, 2, 9 Wakazono A.... Hashimoto T. (Hum. Mutat. 1995)
    8. Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. (PubMed id 7749408)1, 2, 9 Fukao T.... Hashimoto T. (Hum. Mutat. 1995)
    9. Structure and expression of the human mitochondrial acetoacetyl-CoA thiolase-encoding gene. (PubMed id 1684944)1, 2, 9 Kano M.... Hashimoto T. (Gene 1991)
    10. Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk. (PubMed id 20167577)1, 4 Reynolds C.A....Prince J.A. (Hum. Mol. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 38 HGNC: 93 AceView: ACAT1 Ensembl:ENSG00000075239 euGenes: HUgn38
    ECgene: ACAT1 Kegg: 38 H-InvDB: ACAT1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ACAT1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ACAT1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ACAT1 gene:
    Search GeneIP for patents involving ACAT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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