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Protein

Acetyl-CoA acetyltransferase, mitochondrial

Gene

ACAT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plays a major role in ketone body metabolism.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Activated by potassium ions, but not sodium ions.1 Publication

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=4 µM for acetoacetyl coenzyme A1 Publication
  2. KM=20 µM for coenzyme A1 Publication
  3. KM=8 µM for 2-methylacetoacetyl coenzyme A1 Publication
  4. KM=508 µM for acetyl coenzyme A1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei126Acyl-thioester intermediateCurated1
    <p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi219Potassium1 Publication1
    <p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei219Coenzyme A1 Publication1
    Binding sitei263Coenzyme A1 Publication1
    Metal bindingi280Potassium; via carbonyl oxygen1 Publication1
    Metal bindingi281Potassium; via carbonyl oxygen1 Publication1
    Metal bindingi283Potassium; via carbonyl oxygen1 Publication1
    Binding sitei284Coenzyme A1 Publication1
    Metal bindingi381Potassium; via carbonyl oxygen1 Publication1
    Active sitei385Proton acceptorCurated1
    Active sitei413Proton acceptorCurated1

    <p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

    GO - Biological processi

    <p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

    Molecular functionAcyltransferase, Transferase
    LigandMetal-binding, Potassium

    Enzyme and pathway databases

    BioCyc Collection of Pathway/Genome Databases

    More...
    BioCyci
    MetaCyc:HS01167-MONOMER

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-70895 Branched-chain amino acid catabolism
    R-HSA-77108 Utilization of Ketone Bodies
    R-HSA-77111 Synthesis of Ketone Bodies

    Chemistry databases

    SwissLipids knowledge resource for lipid biology

    More...
    SwissLipidsi
    SLP:000000701

    <p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
    Recommended name:
    Acetyl-CoA acetyltransferase, mitochondrial (EC:2.3.1.9)
    Alternative name(s):
    Acetoacetyl-CoA thiolase
    T2
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
    Name:ACAT1
    Synonyms:ACAT, MAT
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
    • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000075239.13

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:93 ACAT1

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    607809 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_P24752

    <p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Mitochondrion

    <p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

    <p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

    3-ketothiolase deficiency (3KTD)4 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn autosomal recessive 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.
    See also OMIM:203750
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00749785Missing in 3KTD. 1
    Natural variantiVAR_00749893N → S in 3KTD; 10% activity. 1 PublicationCorresponds to variant dbSNP:rs120074145EnsemblClinVar.1
    Natural variantiVAR_007499152G → A in 3KTD. Corresponds to variant dbSNP:rs762991875EnsemblClinVar.1
    Natural variantiVAR_007500158N → D in 3KTD; no activity. 1 PublicationCorresponds to variant dbSNP:rs148639841EnsemblClinVar.1
    Natural variantiVAR_007501183G → R in 3KTD; no activity. 1 PublicationCorresponds to variant dbSNP:rs120074141EnsemblClinVar.1
    Natural variantiVAR_007502297T → M in 3KTD; 10% normal activity. 1 PublicationCorresponds to variant dbSNP:rs886041122EnsemblClinVar.1
    Natural variantiVAR_007503301A → P in 3KTD; 5% normal activity. 1 PublicationCorresponds to variant dbSNP:rs1420321267Ensembl.1
    Natural variantiVAR_007504312I → T in 3KTD; 10% activity. 1 PublicationCorresponds to variant dbSNP:rs120074146EnsemblClinVar.1
    Natural variantiVAR_007505333A → P in 3KTD; no activity. 1 PublicationCorresponds to variant dbSNP:rs120074147EnsemblClinVar.1
    Natural variantiVAR_007506379G → V in 3KTD. Corresponds to variant dbSNP:rs120074143EnsemblClinVar.1
    Natural variantiVAR_007507380A → T in 3KTD; 7% normal activity. 1 PublicationCorresponds to variant dbSNP:rs120074140EnsemblClinVar.1

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    38

    MalaCards human disease database

    More...
    MalaCardsi
    ACAT1
    MIMi203750 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000075239

    Orphanet; a database dedicated to information on rare diseases and orphan drugs

    More...
    Orphaneti
    134 Beta-ketothiolase deficiency

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA24431

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...
    ChEMBLi
    CHEMBL2616

    Drug and drug target database

    More...
    DrugBanki
    DB00795 Sulfasalazine

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    ACAT1

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    135755

    <p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 33MitochondrionBy similarityAdd BLAST33
    <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000003408534 – 427Acetyl-CoA acetyltransferase, mitochondrialAdd BLAST394

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei66N6-acetyllysine; alternateBy similarity1
    Modified residuei66N6-succinyllysine; alternateBy similarity1
    Modified residuei78N6-succinyllysineBy similarity1
    Modified residuei174N6-acetyllysine; alternateCombined sources1
    Modified residuei174N6-succinyllysine; alternateBy similarity1
    Modified residuei181N6-acetyllysine; alternateCombined sources1
    Modified residuei181N6-succinyllysine; alternateBy similarity1
    Modified residuei190N6-acetyllysine; alternateBy similarity1
    Modified residuei190N6-succinyllysine; alternateBy similarity1
    Modified residuei202N6-acetyllysine; alternateBy similarity1
    Modified residuei202N6-succinyllysine; alternateBy similarity1
    Modified residuei223N6-acetyllysine; alternateBy similarity1
    Modified residuei223N6-succinyllysine; alternateBy similarity1
    Modified residuei230N6-acetyllysine; alternateBy similarity1
    Modified residuei230N6-succinyllysine; alternateBy similarity1
    Modified residuei243N6-succinyllysineBy similarity1
    Modified residuei251N6-acetyllysineCombined sources1
    Modified residuei257N6-acetyllysineBy similarity1
    Modified residuei263N6-acetyllysine; alternateCombined sources1
    Modified residuei263N6-succinyllysine; alternateBy similarity1
    Modified residuei266N6-succinyllysineBy similarity1
    Modified residuei268N6-succinyllysineBy similarity1
    Modified residuei273N6-acetyllysineBy similarity1
    Modified residuei338N6-acetyllysineBy similarity1

    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

    Succinylation at Lys-268, adjacent to a coenzyme A binding site. Desuccinylated by SIRT5 (By similarity).By similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    P24752

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    P24752

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    P24752

    PaxDb, a database of protein abundance averages across all three domains of life

    More...
    PaxDbi
    P24752

    PeptideAtlas

    More...
    PeptideAtlasi
    P24752

    PRoteomics IDEntifications database

    More...
    PRIDEi
    P24752

    ProteomicsDB human proteome resource

    More...
    ProteomicsDBi
    54224

    Consortium for Top Down Proteomics

    More...
    TopDownProteomicsi
    P24752-1 [P24752-1]

    2D gel databases

    REPRODUCTION-2DPAGE

    More...
    REPRODUCTION-2DPAGEi
    IPI00030363

    University College Dublin 2-DE Proteome Database

    More...
    UCD-2DPAGEi
    P24752

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    P24752

    Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

    More...
    PhosphoSitePlusi
    P24752

    SwissPalm database of S-palmitoylation events

    More...
    SwissPalmi
    P24752

    <p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000075239 Expressed in 233 organ(s), highest expression level in nephron tubule

    CleanEx database of gene expression profiles

    More...
    CleanExi
    HS_ACAT1

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    P24752 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    P24752 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA004428
    HPA007569

    <p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

    <p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Homotetramer.1 Publication

    GO - Molecular functioni

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    106556, 70 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    P24752, 18 interactors

    Molecular INTeraction database

    More...
    MINTi
    P24752

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000265838

    <p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

    Secondary structure

    1427
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    Select the link destinations:

    Protein Data Bank Europe

    More...
    PDBei

    Protein Data Bank RCSB

    More...
    RCSB PDBi

    Protein Data Bank Japan

    More...
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    2F2SX-ray2.00A/B/C/D41-427[»]
    2IB7X-ray2.05A/B/C/D34-427[»]
    2IB8X-ray1.85A/B/C/D34-427[»]
    2IB9X-ray2.05A/B/C/D34-427[»]
    2IBUX-ray1.90A/B/C/D34-427[»]
    2IBWX-ray1.90A/B/C/D34-427[»]
    2IBYX-ray1.85A/B/C/D34-427[»]

    Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

    More...
    ProteinModelPortali
    P24752

    SWISS-MODEL Repository - a database of annotated 3D protein structure models

    More...
    SMRi
    P24752

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    Search...

    Miscellaneous databases

    Relative evolutionary importance of amino acids within a protein sequence

    More...
    EvolutionaryTracei
    P24752

    <p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni258 – 260Coenzyme A binding3

    <p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

    Belongs to the thiolase family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG1390 Eukaryota
    COG0183 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000153490

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000012238

    The HOVERGEN Database of Homologous Vertebrate Genes

    More...
    HOVERGENi
    HBG003112

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    P24752

    KEGG Orthology (KO)

    More...
    KOi
    K00626

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    WDVYNKF

    Database of Orthologous Groups

    More...
    OrthoDBi
    1011220at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    P24752

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF300650

    Family and domain databases

    Conserved Domains Database

    More...
    CDDi
    cd00751 thiolase, 1 hit

    Gene3D Structural and Functional Annotation of Protein Families

    More...
    Gene3Di
    3.40.47.10, 2 hits

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR002155 Thiolase
    IPR016039 Thiolase-like
    IPR020615 Thiolase_acyl_enz_int_AS
    IPR020610 Thiolase_AS
    IPR020617 Thiolase_C
    IPR020613 Thiolase_CS
    IPR020616 Thiolase_N

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF02803 Thiolase_C, 1 hit
    PF00108 Thiolase_N, 1 hit

    PIRSF; a whole-protein classification database

    More...
    PIRSFi
    PIRSF000429 Ac-CoA_Ac_transf, 1 hit

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF53901 SSF53901, 2 hits

    TIGRFAMs; a protein family database

    More...
    TIGRFAMsi
    TIGR01930 AcCoA-C-Actrans, 1 hit

    PROSITE; a protein domain and family database

    More...
    PROSITEi
    View protein in PROSITE
    PS00098 THIOLASE_1, 1 hit
    PS00737 THIOLASE_2, 1 hit
    PS00099 THIOLASE_3, 1 hit

    <p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: P24752-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide
            10         20         30         40         50
    MAVLAALLRS GARSRSPLLR RLVQEIRYVE RSYVSKPTLK EVVIVSATRT
    60 70 80 90 100
    PIGSFLGSLS LLPATKLGSI AIQGAIEKAG IPKEEVKEAY MGNVLQGGEG
    110 120 130 140 150
    QAPTRQAVLG AGLPISTPCT TINKVCASGM KAIMMASQSL MCGHQDVMVA
    160 170 180 190 200
    GGMESMSNVP YVMNRGSTPY GGVKLEDLIV KDGLTDVYNK IHMGSCAENT
    210 220 230 240 250
    AKKLNIARNE QDAYAINSYT RSKAAWEAGK FGNEVIPVTV TVKGQPDVVV
    260 270 280 290 300
    KEDEEYKRVD FSKVPKLKTV FQKENGTVTA ANASTLNDGA AALVLMTADA
    310 320 330 340 350
    AKRLNVTPLA RIVAFADAAV EPIDFPIAPV YAASMVLKDV GLKKEDIAMW
    360 370 380 390 400
    EVNEAFSLVV LANIKMLEID PQKVNINGGA VSLGHPIGMS GARIVGHLTH
    410 420
    ALKQGEYGLA SICNGGGGAS AMLIQKL
    Length:427
    Mass (Da):45,200
    Last modified:March 1, 1992 - v1
    <p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i2E81168EB39D0142
    GO
    Isoform 2 (identifier: P24752-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         146-162: DVMVAGGMESMSNVPYV → IKQETGSLAKICCHVRR
         163-427: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:162
    Mass (Da):17,175
    Checksum:iC76EA13AED1868FC
    GO

    <p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

    There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    H0YEL7H0YEL7_HUMAN
    Acetyl-CoA acetyltransferase, mitoc...
    ACAT1
    136Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    E9PKF3E9PKF3_HUMAN
    Acetyl-CoA acetyltransferase, mitoc...
    ACAT1
    54Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    E9PRQ6E9PRQ6_HUMAN
    Acetyl-CoA acetyltransferase, mitoc...
    ACAT1
    141Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti340V → M in BAA01387 (PubMed:1684944).Curated1
    Sequence conflicti346D → N in BAA01387 (PubMed:1684944).Curated1
    Sequence conflicti380A → S in BAA01387 (PubMed:1684944).Curated1
    Sequence conflicti412I → F in BAA01387 (PubMed:1684944).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_0074965A → P1 PublicationCorresponds to variant dbSNP:rs3741056EnsemblClinVar.1
    Natural variantiVAR_00749785Missing in 3KTD. 1
    Natural variantiVAR_00749893N → S in 3KTD; 10% activity. 1 PublicationCorresponds to variant dbSNP:rs120074145EnsemblClinVar.1
    Natural variantiVAR_007499152G → A in 3KTD. Corresponds to variant dbSNP:rs762991875EnsemblClinVar.1
    Natural variantiVAR_007500158N → D in 3KTD; no activity. 1 PublicationCorresponds to variant dbSNP:rs148639841EnsemblClinVar.1
    Natural variantiVAR_007501183G → R in 3KTD; no activity. 1 PublicationCorresponds to variant dbSNP:rs120074141EnsemblClinVar.1
    Natural variantiVAR_007502297T → M in 3KTD; 10% normal activity. 1 PublicationCorresponds to variant dbSNP:rs886041122EnsemblClinVar.1
    Natural variantiVAR_007503301A → P in 3KTD; 5% normal activity. 1 PublicationCorresponds to variant dbSNP:rs1420321267Ensembl.1
    Natural variantiVAR_007504312I → T in 3KTD; 10% activity. 1 PublicationCorresponds to variant dbSNP:rs120074146EnsemblClinVar.1
    Natural variantiVAR_007505333A → P in 3KTD; no activity. 1 PublicationCorresponds to variant dbSNP:rs120074147EnsemblClinVar.1
    Natural variantiVAR_007506379G → V in 3KTD. Corresponds to variant dbSNP:rs120074143EnsemblClinVar.1
    Natural variantiVAR_007507380A → T in 3KTD; 7% normal activity. 1 PublicationCorresponds to variant dbSNP:rs120074140EnsemblClinVar.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_056844146 – 162DVMVA…NVPYV → IKQETGSLAKICCHVRR in isoform 2. 1 PublicationAdd BLAST17
    Alternative sequenceiVSP_056845163 – 427Missing in isoform 2. 1 PublicationAdd BLAST265

    Sequence databases

    Select the link destinations:

    EMBL nucleotide sequence database

    More...
    EMBLi

    GenBank nucleotide sequence database

    More...
    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...
    DDBJi
    Links Updated
    D90228 mRNA Translation: BAA14278.1
    D10511 Genomic DNA Translation: BAA01387.1
    AK312574 mRNA Translation: BAG35468.1
    AP002433 Genomic DNA No translation available.
    CH471065 Genomic DNA Translation: EAW67104.1
    CH471065 Genomic DNA Translation: EAW67105.1
    BC010942 mRNA Translation: AAH10942.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS8339.1 [P24752-1]

    Protein sequence database of the Protein Information Resource

    More...
    PIRi
    JH0255

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_000010.1, NM_000019.3 [P24752-1]

    UniGene gene-oriented nucleotide sequence clusters

    More...
    UniGenei
    Hs.232375

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000265838; ENSP00000265838; ENSG00000075239 [P24752-1]
    ENST00000299355; ENSP00000299355; ENSG00000075239 [P24752-2]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    38

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:38

    UCSC genome browser

    More...
    UCSCi
    uc001pjw.2 human [P24752-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    <p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

    <p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    D90228 mRNA Translation: BAA14278.1
    D10511 Genomic DNA Translation: BAA01387.1
    AK312574 mRNA Translation: BAG35468.1
    AP002433 Genomic DNA No translation available.
    CH471065 Genomic DNA Translation: EAW67104.1
    CH471065 Genomic DNA Translation: EAW67105.1
    BC010942 mRNA Translation: AAH10942.1
    CCDSiCCDS8339.1 [P24752-1]
    PIRiJH0255
    RefSeqiNP_000010.1, NM_000019.3 [P24752-1]
    UniGeneiHs.232375

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    2F2SX-ray2.00A/B/C/D41-427[»]
    2IB7X-ray2.05A/B/C/D34-427[»]
    2IB8X-ray1.85A/B/C/D34-427[»]
    2IB9X-ray2.05A/B/C/D34-427[»]
    2IBUX-ray1.90A/B/C/D34-427[»]
    2IBWX-ray1.90A/B/C/D34-427[»]
    2IBYX-ray1.85A/B/C/D34-427[»]
    ProteinModelPortaliP24752
    SMRiP24752
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi106556, 70 interactors
    IntActiP24752, 18 interactors
    MINTiP24752
    STRINGi9606.ENSP00000265838

    Chemistry databases

    ChEMBLiCHEMBL2616
    DrugBankiDB00795 Sulfasalazine
    SwissLipidsiSLP:000000701

    PTM databases

    iPTMnetiP24752
    PhosphoSitePlusiP24752
    SwissPalmiP24752

    Polymorphism and mutation databases

    BioMutaiACAT1
    DMDMi135755

    2D gel databases

    REPRODUCTION-2DPAGEiIPI00030363
    UCD-2DPAGEiP24752

    Proteomic databases

    EPDiP24752
    jPOSTiP24752
    MaxQBiP24752
    PaxDbiP24752
    PeptideAtlasiP24752
    PRIDEiP24752
    ProteomicsDBi54224
    TopDownProteomicsiP24752-1 [P24752-1]

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    38
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000265838; ENSP00000265838; ENSG00000075239 [P24752-1]
    ENST00000299355; ENSP00000299355; ENSG00000075239 [P24752-2]
    GeneIDi38
    KEGGihsa:38
    UCSCiuc001pjw.2 human [P24752-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    38
    DisGeNETi38
    EuPathDBiHostDB:ENSG00000075239.13

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    ACAT1
    HGNCiHGNC:93 ACAT1
    HPAiHPA004428
    HPA007569
    MalaCardsiACAT1
    MIMi203750 phenotype
    607809 gene
    neXtProtiNX_P24752
    OpenTargetsiENSG00000075239
    Orphaneti134 Beta-ketothiolase deficiency
    PharmGKBiPA24431

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG1390 Eukaryota
    COG0183 LUCA
    GeneTreeiENSGT00940000153490
    HOGENOMiHOG000012238
    HOVERGENiHBG003112
    InParanoidiP24752
    KOiK00626
    OMAiWDVYNKF
    OrthoDBi1011220at2759
    PhylomeDBiP24752
    TreeFamiTF300650

    Enzyme and pathway databases

    BioCyciMetaCyc:HS01167-MONOMER
    ReactomeiR-HSA-70895 Branched-chain amino acid catabolism
    R-HSA-77108 Utilization of Ketone Bodies
    R-HSA-77111 Synthesis of Ketone Bodies

    Miscellaneous databases

    ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

    More...
    ChiTaRSi
    ACAT1 human
    EvolutionaryTraceiP24752

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    ACAT1

    Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

    More...
    GenomeRNAii
    38

    Protein Ontology

    More...
    PROi
    PR:P24752

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000075239 Expressed in 233 organ(s), highest expression level in nephron tubule
    CleanExiHS_ACAT1
    ExpressionAtlasiP24752 baseline and differential
    GenevisibleiP24752 HS

    Family and domain databases

    CDDicd00751 thiolase, 1 hit
    Gene3Di3.40.47.10, 2 hits
    InterProiView protein in InterPro
    IPR002155 Thiolase
    IPR016039 Thiolase-like
    IPR020615 Thiolase_acyl_enz_int_AS
    IPR020610 Thiolase_AS
    IPR020617 Thiolase_C
    IPR020613 Thiolase_CS
    IPR020616 Thiolase_N
    PfamiView protein in Pfam
    PF02803 Thiolase_C, 1 hit
    PF00108 Thiolase_N, 1 hit
    PIRSFiPIRSF000429 Ac-CoA_Ac_transf, 1 hit
    SUPFAMiSSF53901 SSF53901, 2 hits
    TIGRFAMsiTIGR01930 AcCoA-C-Actrans, 1 hit
    PROSITEiView protein in PROSITE
    PS00098 THIOLASE_1, 1 hit
    PS00737 THIOLASE_2, 1 hit
    PS00099 THIOLASE_3, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    Search...

    <p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

    <p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTHIL_HUMAN
    <p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P24752
    Secondary accession number(s): B2R6H1, G3XAB4, Q96FG8
    <p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 1992
    Last sequence update: March 1, 1992
    Last modified: January 16, 2019
    This is version 201 of the entry and version 1 of the sequence. See complete history.
    <p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    <p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. SIMILARITY comments
      Index of protein domains and families
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
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