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Entry version 176 (11 Dec 2019)
Sequence version 1 (01 May 2000)
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Protein

Isobutyryl-CoA dehydrogenase, mitochondrial

Gene

ACAD8

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

Isobutyryl-CoA dehydrogenase which catalyzes one of the steps of the valine catabolic pathway (PubMed:11013134, PubMed:12359132, PubMed:16857760). To a lesser extent, is also able to catalyze the oxidation of (2S)-2-methylbutanoyl-CoA (PubMed:11013134, PubMed:12359132).3 Publications

<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 provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

FAD1 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

kcat is 2.0 sec(-1) for the oxidation of 2-methylpropanoyl-CoA (PubMed:12359132). kcat is 4.1 sec(-1) for the oxidation of (2S)-methylbutanoyl-CoA (PubMed:12359132). kcat is 0.83 sec(-1) for the oxidation of n-propionyl-CoA (PubMed:12359132).1 Publication
  1. KM=2.6 µM for 2-methylpropanoyl-CoA1 Publication
  2. KM=18 µM for (2S)-2-methylbutanoyl-CoA1 Publication
  3. KM=24 µM for n-propionyl-CoA1 Publication

    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: L-valine degradation

    This protein is involved in the pathway L-valine degradation, which is part of Amino-acid degradation.2 Publications
    View all proteins of this organism that are known to be involved in the pathway L-valine degradation and in Amino-acid degradation.

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 sitei167Substrate; via carbonyl oxygen1 Publication1
    Binding sitei302FAD; shared with dimeric partner1 Publication1
    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 sitei398Proton acceptor1 Publication1
    Binding sitei410Substrate1 Publication1

    Regions

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi158 – 167FAD1 Publication10
    Nucleotide bindingi191 – 193FAD1 Publication3
    Nucleotide bindingi312 – 313FAD; shared with dimeric partner1 Publication2
    Nucleotide bindingi371 – 375FAD; shared with dimeric partner1 Publication5
    Nucleotide bindingi400 – 402FAD1 Publication3

    <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 functionActivator, Oxidoreductase
    Biological processBranched-chain amino acid catabolism, Transcription, Transcription regulation
    LigandFAD, Flavoprotein

    Enzyme and pathway databases

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-70895 Branched-chain amino acid catabolism

    UniPathway: a resource for the exploration and annotation of metabolic pathways

    More...
    UniPathwayi
    UPA00362

    Chemistry databases

    SwissLipids knowledge resource for lipid biology

    More...
    SwissLipidsi
    SLP:000001420

    <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:
    Isobutyryl-CoA dehydrogenase, mitochondrial (EC:1.3.8.-3 Publications)
    Short name:
    IBDH1 Publication
    Alternative name(s):
    Activator-recruited cofactor 42 kDa component
    Short name:
    ARC42
    Acyl-CoA dehydrogenase family member 8
    Short name:
    ACAD-8
    <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:ACAD8
    Synonyms:ARC42, IBD
    <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:ENSG00000151498.11

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:87 ACAD8

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    604773 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q9UKU7

    <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 & Seán O’Donoghue; 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

    Isobutyryl-CoA dehydrogenase deficiency (IBDD)3 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionThe symptoms of IBDD generally appear until late in infancy or in childhood and can include poor feeding and growth (failure to thrive), a weakened and enlarged heart (dilated cardiomyopathy), seizures, and low numbers of red blood cells (anemia).
    Related information in OMIM
    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_035071128M → I in IBDD. 1 PublicationCorresponds to variant dbSNP:rs374317179EnsemblClinVar.1
    Natural variantiVAR_035072134D → Y in IBDD. 1 PublicationCorresponds to variant dbSNP:rs367857040EnsemblClinVar.1
    Natural variantiVAR_035073137G → R in IBDD; loss of protein solubility; complete loss of isobutyryl-CoA dehydrogenase activity. 1 PublicationCorresponds to variant dbSNP:rs371449613EnsemblClinVar.1
    Natural variantiVAR_035074152M → T in IBDD. 1 PublicationCorresponds to variant dbSNP:rs121908418EnsemblClinVar.1
    Natural variantiVAR_035075203V → I in IBDD. 1 PublicationCorresponds to variant dbSNP:rs759877257Ensembl.1
    Natural variantiVAR_035076302R → Q in IBDD; no effect on localization to the mitochondrion; complete loss of isobutyryl-CoA dehydrogenase activity; loss of protein expression in patient cells. 2 PublicationsCorresponds to variant dbSNP:rs121908422EnsemblClinVar.1
    Natural variantiVAR_035077320A → T in IBDD; decreased isobutyryl-CoA dehydrogenase activity; less than 20% of wild-type. 1 PublicationCorresponds to variant dbSNP:rs200620279EnsemblClinVar.1
    Natural variantiVAR_035078334R → C in IBDD. 1 PublicationCorresponds to variant dbSNP:rs778823613Ensembl.1
    Natural variantiVAR_035079385Q → R in IBDD. 1 PublicationCorresponds to variant dbSNP:rs367996531Ensembl.1

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    27034

    MalaCards human disease database

    More...
    MalaCardsi
    ACAD8
    MIMi611283 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000151498

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

    More...
    Orphaneti
    79159 Isobutyryl-CoA dehydrogenase deficiency

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA24423

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    Q9UKU7 Tbio

    Chemistry databases

    Drug and drug target database

    More...
    DrugBanki
    DB03147 Flavin adenine dinucleotide
    DB01675 Methacrylyl-Coenzyme A

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    ACAD8

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    26006699

    <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 – 22MitochondrionSequence analysisAdd BLAST22
    <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_000000052223 – 415Isobutyryl-CoA dehydrogenase, mitochondrialAdd BLAST393

    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 residuei50N6-acetyllysine; alternateBy similarity1
    Modified residuei50N6-succinyllysine; alternateBy similarity1
    Modified residuei213N6-succinyllysineBy similarity1
    Modified residuei231N6-acetyllysineBy similarity1

    Keywords - PTMi

    Acetylation

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    Q9UKU7

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    Q9UKU7

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    Q9UKU7

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

    More...
    PaxDbi
    Q9UKU7

    PeptideAtlas

    More...
    PeptideAtlasi
    Q9UKU7

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q9UKU7

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    6725
    68496
    84879 [Q9UKU7-1]

    2D gel databases

    University College Dublin 2-DE Proteome Database

    More...
    UCD-2DPAGEi
    Q9UKU7

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q9UKU7

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

    More...
    PhosphoSitePlusi
    Q9UKU7

    <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

    <p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

    Detected at comparable levels in all tissues examined (heart, lung, brain, skeletal muscle, pancreas and placenta). Weakly expressed in liver and kidney.

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000151498 Expressed in 209 organ(s), highest expression level in right lobe of thyroid gland

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q9UKU7 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q9UKU7 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA040689
    HPA043903

    <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, formed by a dimer of dimers (PubMed:11013134, PubMed:14752098). May be part of the large multiprotein complex ARC/DRIP (PubMed:10235267).

    3 Publications

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    117965, 27 interactors

    CORUM comprehensive resource of mammalian protein complexes

    More...
    CORUMi
    Q9UKU7

    Protein interaction database and analysis system

    More...
    IntActi
    Q9UKU7, 16 interactors

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000281182

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...
    RNActi
    Q9UKU7 protein

    <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

    1415
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

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

    More...
    SMRi
    Q9UKU7

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    Protein Data Bank in Europe - Knowledge Base

    More...
    PDBe-KBi
    Search...

    Miscellaneous databases

    Relative evolutionary importance of amino acids within a protein sequence

    More...
    EvolutionaryTracei
    Q9UKU7

    <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>Regioni274 – 277Substrate binding1 Publication4

    <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 acyl-CoA dehydrogenase family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG0140 Eukaryota
    COG1960 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000157590

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000131659

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q9UKU7

    KEGG Orthology (KO)

    More...
    KOi
    K11538

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    NMATWML

    Database of Orthologous Groups

    More...
    OrthoDBi
    819314at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q9UKU7

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF105052

    Family and domain databases

    Conserved Domains Database

    More...
    CDDi
    cd01162 IBD, 1 hit

    Gene3D Structural and Functional Annotation of Protein Families

    More...
    Gene3Di
    1.10.540.10, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR006089 Acyl-CoA_DH_CS
    IPR006091 Acyl-CoA_Oxase/DH_cen-dom
    IPR036250 AcylCo_DH-like_C
    IPR009075 AcylCo_DH/oxidase_C
    IPR013786 AcylCoA_DH/ox_N
    IPR037069 AcylCoA_DH/ox_N_sf
    IPR009100 AcylCoA_DH/oxidase_NM_dom
    IPR034178 IBD

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF00441 Acyl-CoA_dh_1, 1 hit
    PF02770 Acyl-CoA_dh_M, 1 hit
    PF02771 Acyl-CoA_dh_N, 1 hit

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF47203 SSF47203, 1 hit
    SSF56645 SSF56645, 1 hit

    PROSITE; a protein domain and family database

    More...
    PROSITEi
    View protein in PROSITE
    PS00072 ACYL_COA_DH_1, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)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 3 <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 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q9UKU7-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
    MLWSGCRRFG ARLGCLPGGL RVLVQTGHRS LTSCIDPSMG LNEEQKEFQK
    60 70 80 90 100
    VAFDFAAREM APNMAEWDQK ELFPVDVMRK AAQLGFGGVY IQTDVGGSGL
    110 120 130 140 150
    SRLDTSVIFE ALATGCTSTT AYISIHNMCA WMIDSFGNEE QRHKFCPPLC
    160 170 180 190 200
    TMEKFASYCL TEPGSGSDAA SLLTSAKKQG DHYILNGSKA FISGAGESDI
    210 220 230 240 250
    YVVMCRTGGP GPKGISCIVV EKGTPGLSFG KKEKKVGWNS QPTRAVIFED
    260 270 280 290 300
    CAVPVANRIG SEGQGFLIAV RGLNGGRINI ASCSLGAAHA SVILTRDHLN
    310 320 330 340 350
    VRKQFGEPLA SNQYLQFTLA DMATRLVAAR LMVRNAAVAL QEERKDAVAL
    360 370 380 390 400
    CSMAKLFATD ECFAICNQAL QMHGGYGYLK DYAVQQYVRD SRVHQILEGS
    410
    NEVMRILISR SLLQE
    Length:415
    Mass (Da):45,070
    Last modified:May 1, 2000 - 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:iCAFFE91B74E2362D
    GO
    Isoform 2 (identifier: Q9UKU7-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         37-37: P → R
         38-164: Missing.

    Show »
    Length:288
    Mass (Da):31,024
    Checksum:i731C090A54E4BCAB
    GO
    Isoform 3 (identifier: Q9UKU7-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-77: Missing.
         399-415: GSNEVMRILISRSLLQE → ELFWQGPGVQSRSFVPFGGPQIALLLPFSSGDLREG

    Show »
    Length:357
    Mass (Da):38,359
    Checksum:iFFFBC112FA06E2FB
    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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    E9PLS3E9PLS3_HUMAN
    Isobutyryl-CoA dehydrogenase, mitoc...
    ACAD8
    76Annotation 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>
    E9PKP9E9PKP9_HUMAN
    Isobutyryl-CoA dehydrogenase, mitoc...
    ACAD8
    69Annotation 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 conflicti210P → L in AAH01964 (PubMed:15489334).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_035071128M → I in IBDD. 1 PublicationCorresponds to variant dbSNP:rs374317179EnsemblClinVar.1
    Natural variantiVAR_035072134D → Y in IBDD. 1 PublicationCorresponds to variant dbSNP:rs367857040EnsemblClinVar.1
    Natural variantiVAR_035073137G → R in IBDD; loss of protein solubility; complete loss of isobutyryl-CoA dehydrogenase activity. 1 PublicationCorresponds to variant dbSNP:rs371449613EnsemblClinVar.1
    Natural variantiVAR_035074152M → T in IBDD. 1 PublicationCorresponds to variant dbSNP:rs121908418EnsemblClinVar.1
    Natural variantiVAR_035075203V → I in IBDD. 1 PublicationCorresponds to variant dbSNP:rs759877257Ensembl.1
    Natural variantiVAR_035076302R → Q in IBDD; no effect on localization to the mitochondrion; complete loss of isobutyryl-CoA dehydrogenase activity; loss of protein expression in patient cells. 2 PublicationsCorresponds to variant dbSNP:rs121908422EnsemblClinVar.1
    Natural variantiVAR_035077320A → T in IBDD; decreased isobutyryl-CoA dehydrogenase activity; less than 20% of wild-type. 1 PublicationCorresponds to variant dbSNP:rs200620279EnsemblClinVar.1
    Natural variantiVAR_035078334R → C in IBDD. 1 PublicationCorresponds to variant dbSNP:rs778823613Ensembl.1
    Natural variantiVAR_035079385Q → R in IBDD. 1 PublicationCorresponds to variant dbSNP:rs367996531Ensembl.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0557791 – 77Missing in isoform 3. 1 PublicationAdd BLAST77
    Alternative sequenceiVSP_05578037P → R in isoform 2. 1 Publication1
    Alternative sequenceiVSP_05578138 – 164Missing in isoform 2. 1 PublicationAdd BLAST127
    Alternative sequenceiVSP_055782399 – 415GSNEV…SLLQE → ELFWQGPGVQSRSFVPFGGP QIALLLPFSSGDLREG in isoform 3. 1 PublicationAdd BLAST17

    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
    AF126245 mRNA Translation: AAF12736.1
    AF260689 AF260688 Genomic DNA Translation: AAF97922.1
    AK000359 mRNA Translation: BAA91109.1
    AK074640 mRNA Translation: BAC11107.1
    AK299492 mRNA Translation: BAH13050.1
    AP000859 Genomic DNA No translation available.
    CH471065 Genomic DNA Translation: EAW67833.1
    BC001964 mRNA Translation: AAH01964.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS8498.1 [Q9UKU7-1]

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_055199.1, NM_014384.2 [Q9UKU7-1]

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000281182; ENSP00000281182; ENSG00000151498 [Q9UKU7-1]
    ENST00000374752; ENSP00000363884; ENSG00000151498 [Q9UKU7-2]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    27034

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:27034

    UCSC genome browser

    More...
    UCSCi
    uc001qhk.4 human [Q9UKU7-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    <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
    AF126245 mRNA Translation: AAF12736.1
    AF260689 AF260688 Genomic DNA Translation: AAF97922.1
    AK000359 mRNA Translation: BAA91109.1
    AK074640 mRNA Translation: BAC11107.1
    AK299492 mRNA Translation: BAH13050.1
    AP000859 Genomic DNA No translation available.
    CH471065 Genomic DNA Translation: EAW67833.1
    BC001964 mRNA Translation: AAH01964.1
    CCDSiCCDS8498.1 [Q9UKU7-1]
    RefSeqiNP_055199.1, NM_014384.2 [Q9UKU7-1]

    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
    1RX0X-ray1.77A/B/C/D24-415[»]
    SMRiQ9UKU7
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGridi117965, 27 interactors
    CORUMiQ9UKU7
    IntActiQ9UKU7, 16 interactors
    STRINGi9606.ENSP00000281182

    Chemistry databases

    DrugBankiDB03147 Flavin adenine dinucleotide
    DB01675 Methacrylyl-Coenzyme A
    SwissLipidsiSLP:000001420

    PTM databases

    iPTMnetiQ9UKU7
    PhosphoSitePlusiQ9UKU7

    Polymorphism and mutation databases

    BioMutaiACAD8
    DMDMi26006699

    2D gel databases

    UCD-2DPAGEiQ9UKU7

    Proteomic databases

    EPDiQ9UKU7
    jPOSTiQ9UKU7
    MassIVEiQ9UKU7
    PaxDbiQ9UKU7
    PeptideAtlasiQ9UKU7
    PRIDEiQ9UKU7
    ProteomicsDBi6725
    68496
    84879 [Q9UKU7-1]

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    27034

    Genome annotation databases

    EnsembliENST00000281182; ENSP00000281182; ENSG00000151498 [Q9UKU7-1]
    ENST00000374752; ENSP00000363884; ENSG00000151498 [Q9UKU7-2]
    GeneIDi27034
    KEGGihsa:27034
    UCSCiuc001qhk.4 human [Q9UKU7-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    27034
    DisGeNETi27034
    EuPathDBiHostDB:ENSG00000151498.11

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    ACAD8
    HGNCiHGNC:87 ACAD8
    HPAiHPA040689
    HPA043903
    MalaCardsiACAD8
    MIMi604773 gene
    611283 phenotype
    neXtProtiNX_Q9UKU7
    OpenTargetsiENSG00000151498
    Orphaneti79159 Isobutyryl-CoA dehydrogenase deficiency
    PharmGKBiPA24423

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG0140 Eukaryota
    COG1960 LUCA
    GeneTreeiENSGT00940000157590
    HOGENOMiHOG000131659
    InParanoidiQ9UKU7
    KOiK11538
    OMAiNMATWML
    OrthoDBi819314at2759
    PhylomeDBiQ9UKU7
    TreeFamiTF105052

    Enzyme and pathway databases

    UniPathwayiUPA00362
    ReactomeiR-HSA-70895 Branched-chain amino acid catabolism

    Miscellaneous databases

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

    More...
    ChiTaRSi
    ACAD8 human
    EvolutionaryTraceiQ9UKU7

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    ACAD8

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

    More...
    GenomeRNAii
    27034
    PharosiQ9UKU7 Tbio

    Protein Ontology

    More...
    PROi
    PR:Q9UKU7
    RNActiQ9UKU7 protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000151498 Expressed in 209 organ(s), highest expression level in right lobe of thyroid gland
    ExpressionAtlasiQ9UKU7 baseline and differential
    GenevisibleiQ9UKU7 HS

    Family and domain databases

    CDDicd01162 IBD, 1 hit
    Gene3Di1.10.540.10, 1 hit
    InterProiView protein in InterPro
    IPR006089 Acyl-CoA_DH_CS
    IPR006091 Acyl-CoA_Oxase/DH_cen-dom
    IPR036250 AcylCo_DH-like_C
    IPR009075 AcylCo_DH/oxidase_C
    IPR013786 AcylCoA_DH/ox_N
    IPR037069 AcylCoA_DH/ox_N_sf
    IPR009100 AcylCoA_DH/oxidase_NM_dom
    IPR034178 IBD
    PfamiView protein in Pfam
    PF00441 Acyl-CoA_dh_1, 1 hit
    PF02770 Acyl-CoA_dh_M, 1 hit
    PF02771 Acyl-CoA_dh_N, 1 hit
    SUPFAMiSSF47203 SSF47203, 1 hit
    SSF56645 SSF56645, 1 hit
    PROSITEiView protein in PROSITE
    PS00072 ACYL_COA_DH_1, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    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 nameiACAD8_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: Q9UKU7
    Secondary accession number(s): B7Z5W4, Q6ZWP6, Q9BUS8
    <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: November 28, 2002
    Last sequence update: May 1, 2000
    Last modified: December 11, 2019
    This is version 176 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, Direct protein sequencing, Reference proteome

    Documents

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