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Entry version 168 (16 Oct 2019)
Sequence version 1 (01 Mar 2001)
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Protein

Complex I assembly factor ACAD9, mitochondrial

Gene

ACAD9

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

As part of the MCIA complex, primarily participates to the assembly of the mitochondrial complex I and therefore plays a role in oxidative phosphorylation (PubMed:20816094, PubMed:24158852). This moonlighting protein has also a dehydrogenase activity toward a broad range of substrates with greater specificity for long-chain unsaturated acyl-CoAs (PubMed:12359260, PubMed:16020546, PubMed:21237683, PubMed:24158852). However, in vivo, it does not seem to play a primary role in fatty acid oxidation (PubMed:20816094, PubMed:24158852). In addition, the function in complex I assembly is independent of the dehydrogenase activity of the protein (PubMed:24158852).5 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

  1. KM=2.8 µM for hexadecanoyl-CoA1 Publication
  2. KM=0.7 µM for (9Z)-hexadecenoyl-CoA1 Publication
  3. KM=2.1 µM for (9Z,12Z)-octadecadienoyl-CoA1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <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 sitei426Proton acceptor1 Publication1

    <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 functionOxidoreductase
    LigandFAD, Flavoprotein

    Enzyme and pathway databases

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-6799198 Complex I biogenesis

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...
    SABIO-RKi
    Q9H845

    Chemistry databases

    SwissLipids knowledge resource for lipid biology

    More...
    SwissLipidsi
    SLP:000000619

    <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:
    Complex I assembly factor ACAD9, mitochondrial1 Publication
    Alternative name(s):
    Acyl-CoA dehydrogenase family member 91 Publication (EC:1.3.8.-4 Publications)
    Short name:
    ACAD-91 Publication
    <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:ACAD9Imported
    <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 3

    Organism-specific databases

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:21497 ACAD9

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    611103 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q9H845

    <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

    Membrane, Mitochondrion, Mitochondrion inner membrane

    <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

    Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20)8 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn autosomal recessive metabolic disorder associated with mitochondrial complex I deficiency, resulting in multisystemic and variable manifestations. Clinical features include infantile onset of acute metabolic acidosis, Reye-like episodes (brain edema and vomiting that may rapidly progress to seizures, coma and death), exercise intolerance, hypertrophic cardiomyopathy, liver failure, muscle weakness, and neurologic dysfunction.
    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_07189244F → I in MC1DN20. 1 PublicationCorresponds to variant dbSNP:rs387907041EnsemblClinVar.1
    Natural variantiVAR_071893127R → K in MC1DN20. 1 Publication1
    Natural variantiVAR_071894193R → W in MC1DN20; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs377547811Ensembl.1
    Natural variantiVAR_071895220A → V in MC1DN20. 1 Publication1
    Natural variantiVAR_071896234S → F in MC1DN20; unknown pathological significance. 1 Publication1
    Natural variantiVAR_071897266R → Q in MC1DN20. 1 PublicationCorresponds to variant dbSNP:rs387907042EnsemblClinVar.1
    Natural variantiVAR_076177271C → G in MC1DN20. 1 Publication1
    Natural variantiVAR_071898303G → S in MC1DN20; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs143383023Ensembl.1
    Natural variantiVAR_071899326A → T in MC1DN20; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs115532916EnsemblClinVar.1
    Natural variantiVAR_076178384V → M in MC1DN20. 1 PublicationCorresponds to variant dbSNP:rs1447947184Ensembl.1
    Natural variantiVAR_071900413E → K in MC1DN20; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149753643EnsemblClinVar.1
    Natural variantiVAR_071901414R → C in MC1DN20. 1 PublicationCorresponds to variant dbSNP:rs777282696EnsemblClinVar.1
    Natural variantiVAR_071902417R → C in MC1DN20. 1 PublicationCorresponds to variant dbSNP:rs368949613EnsemblClinVar.1
    Natural variantiVAR_071903469R → W in MC1DN20. 1 PublicationCorresponds to variant dbSNP:rs139145143EnsemblClinVar.1
    Natural variantiVAR_071904518R → H in MC1DN20. 1 PublicationCorresponds to variant dbSNP:rs781149699Ensembl.1
    Natural variantiVAR_071905532R → W in MC1DN20. 3 PublicationsCorresponds to variant dbSNP:rs377022708EnsemblClinVar.1
    Natural variantiVAR_076179606L → H in MC1DN20. 1 Publication1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi426E → Q: Loss of long-chain-acyl-CoA dehydrogenase activity. Does not affect mitochondrial complex I assembly. 1 Publication1

    Keywords - Diseasei

    Disease mutation, Primary mitochondrial disease

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    28976

    MalaCards human disease database

    More...
    MalaCardsi
    ACAD9
    MIMi611126 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000177646

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

    More...
    Orphaneti
    99901 Acyl-CoA dehydrogenase 9 deficiency

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA134900655

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    Q9H845

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    ACAD9

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    32469596

    <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 – 37Mitochondrion1 PublicationAdd BLAST37
    <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_000000052438 – 621Complex I assembly factor ACAD9, mitochondrialAdd BLAST584

    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 residuei41N6-acetyllysineCombined sources1
    Modified residuei92N6-succinyllysineBy similarity1
    Modified residuei478PhosphothreonineBy similarity1
    Modified residuei521N6-acetyllysine; alternateBy similarity1
    Modified residuei521N6-succinyllysine; alternateBy similarity1

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    Q9H845

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    Q9H845

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    Q9H845

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q9H845

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

    More...
    PaxDbi
    Q9H845

    PeptideAtlas

    More...
    PeptideAtlasi
    Q9H845

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q9H845

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    81177

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q9H845

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

    More...
    PhosphoSitePlusi
    Q9H845

    SwissPalm database of S-palmitoylation events

    More...
    SwissPalmi
    Q9H845

    <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

    Ubiquitously expressed in most normal human tissues and cancer cell lines with high level of expression in heart, skeletal muscles, brain, kidney and liver (PubMed:12359260). In the cerebellum uniquely expressed in the granular layer (at protein level) (PubMed:21237683).2 Publications

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000177646 Expressed in 197 organ(s), highest expression level in upper arm skin

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q9H845 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q9H845 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA037716
    HPA046720

    <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

    Homodimer (PubMed:16020546). Part of the mitochondrial complex I assembly/MCIA complex that comprises at least TMEM126B, NDUFAF1, ECSIT, and ACAD9 (By similarity).

    Interacts with NDUFAF1 and ECSIT (PubMed:20816094).

    By similarity1 Publication

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    118799, 87 interactors

    Database of interacting proteins

    More...
    DIPi
    DIP-53699N

    Protein interaction database and analysis system

    More...
    IntActi
    Q9H845, 89 interactors

    Molecular INTeraction database

    More...
    MINTi
    Q9H845

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000312618

    <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

    3D structure databases

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

    More...
    SMRi
    Q9H845

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    <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

    <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
    KOG0137 Eukaryota
    COG1960 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000157312

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000131665

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q9H845

    KEGG Orthology (KO)

    More...
    KOi
    K15980

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    PIGKMEG

    Database of Orthologous Groups

    More...
    OrthoDBi
    819314at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q9H845

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF105053

    Family and domain databases

    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

    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, 2 hits
    SSF56645 SSF56645, 1 hit

    PROSITE; a protein domain and family database

    More...
    PROSITEi
    View protein in PROSITE
    PS00072 ACYL_COA_DH_1, 1 hit
    PS00073 ACYL_COA_DH_2, 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>Sequence (1+)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 has 1 described isoform and 6 potential isoforms that are computationally mapped.Show allAlign All

    Q9H845-1 [UniParc]FASTAAdd to basket
    « Hide
            10         20         30         40         50
    MSGCGLFLRT TAAARACRGL VVSTANRRLL RTSPPVRAFA KELFLGKIKK
    60 70 80 90 100
    KEVFPFPEVS QDELNEINQF LGPVEKFFTE EVDSRKIDQE GKIPDETLEK
    110 120 130 140 150
    LKSLGLFGLQ VPEEYGGLGF SNTMYSRLGE IISMDGSITV TLAAHQAIGL
    160 170 180 190 200
    KGIILAGTEE QKAKYLPKLA SGEHIAAFCL TEPASGSDAA SIRSRATLSE
    210 220 230 240 250
    DKKHYILNGS KVWITNGGLA NIFTVFAKTE VVDSDGSVKD KITAFIVERD
    260 270 280 290 300
    FGGVTNGKPE DKLGIRGSNT CEVHFENTKI PVENILGEVG DGFKVAMNIL
    310 320 330 340 350
    NSGRFSMGSV VAGLLKRLIE MTAEYACTRK QFNKRLSEFG LIQEKFALMA
    360 370 380 390 400
    QKAYVMESMT YLTAGMLDQP GFPDCSIEAA MVKVFSSEAA WQCVSEALQI
    410 420 430 440 450
    LGGLGYTRDY PYERILRDTR ILLIFEGTNE ILRMYIALTG LQHAGRILTT
    460 470 480 490 500
    RIHELKQAKV STVMDTVGRR LRDSLGRTVD LGLTGNHGVV HPSLADSANK
    510 520 530 540 550
    FEENTYCFGR TVETLLLRFG KTIMEEQLVL KRVANILINL YGMTAVLSRA
    560 570 580 590 600
    SRSIRIGLRN HDHEVLLANT FCVEAYLQNL FSLSQLDKYA PENLDEQIKK
    610 620
    VSQQILEKRA YICAHPLDRT C
    Length:621
    Mass (Da):68,760
    Last modified:March 1, 2001 - 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:i064BCE0378877F54
    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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    D6RCD8D6RCD8_HUMAN
    Acyl-CoA dehydrogenase family membe...
    ACAD9
    173Annotation 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>
    H0Y8Z9H0Y8Z9_HUMAN
    Acyl-CoA dehydrogenase family membe...
    ACAD9
    384Annotation 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>
    D6R9Z3D6R9Z3_HUMAN
    Acyl-CoA dehydrogenase family membe...
    ACAD9
    99Annotation 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>
    D6RDK9D6RDK9_HUMAN
    Acyl-CoA dehydrogenase family membe...
    ACAD9
    93Annotation 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>
    D6RGK6D6RGK6_HUMAN
    Acyl-CoA dehydrogenase family membe...
    ACAD9
    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>
    D6RJA8D6RJA8_HUMAN
    Acyl-CoA dehydrogenase family membe...
    ACAD9
    93Annotation 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 conflicti397A → V in AAL56011 (PubMed:12359260).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_07189244F → I in MC1DN20. 1 PublicationCorresponds to variant dbSNP:rs387907041EnsemblClinVar.1
    Natural variantiVAR_071893127R → K in MC1DN20. 1 Publication1
    Natural variantiVAR_071894193R → W in MC1DN20; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs377547811Ensembl.1
    Natural variantiVAR_071895220A → V in MC1DN20. 1 Publication1
    Natural variantiVAR_071896234S → F in MC1DN20; unknown pathological significance. 1 Publication1
    Natural variantiVAR_071897266R → Q in MC1DN20. 1 PublicationCorresponds to variant dbSNP:rs387907042EnsemblClinVar.1
    Natural variantiVAR_076177271C → G in MC1DN20. 1 Publication1
    Natural variantiVAR_071898303G → S in MC1DN20; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs143383023Ensembl.1
    Natural variantiVAR_071899326A → T in MC1DN20; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs115532916EnsemblClinVar.1
    Natural variantiVAR_076178384V → M in MC1DN20. 1 PublicationCorresponds to variant dbSNP:rs1447947184Ensembl.1
    Natural variantiVAR_071900413E → K in MC1DN20; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149753643EnsemblClinVar.1
    Natural variantiVAR_071901414R → C in MC1DN20. 1 PublicationCorresponds to variant dbSNP:rs777282696EnsemblClinVar.1
    Natural variantiVAR_071902417R → C in MC1DN20. 1 PublicationCorresponds to variant dbSNP:rs368949613EnsemblClinVar.1
    Natural variantiVAR_071903469R → W in MC1DN20. 1 PublicationCorresponds to variant dbSNP:rs139145143EnsemblClinVar.1
    Natural variantiVAR_033459477R → Q. Corresponds to variant dbSNP:rs4494951EnsemblClinVar.1
    Natural variantiVAR_071904518R → H in MC1DN20. 1 PublicationCorresponds to variant dbSNP:rs781149699Ensembl.1
    Natural variantiVAR_071905532R → W in MC1DN20. 3 PublicationsCorresponds to variant dbSNP:rs377022708EnsemblClinVar.1
    Natural variantiVAR_076179606L → H in MC1DN20. 1 Publication1

    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
    AF327351 mRNA Translation: AAL56011.1
    AK024012 mRNA Translation: BAB14775.1
    CH471052 Genomic DNA Translation: EAW79295.1
    CH471052 Genomic DNA Translation: EAW79296.1
    BC013354 mRNA Translation: AAH13354.1
    BC007970 mRNA Translation: AAH07970.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS3053.1

    Protein sequence database of the Protein Information Resource

    More...
    PIRi
    JC7892

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_054768.2, NM_014049.4

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000308982; ENSP00000312618; ENSG00000177646

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    28976

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:28976

    UCSC genome browser

    More...
    UCSCi
    uc003ela.5 human

    Keywords - Coding sequence diversityi

    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
    AF327351 mRNA Translation: AAL56011.1
    AK024012 mRNA Translation: BAB14775.1
    CH471052 Genomic DNA Translation: EAW79295.1
    CH471052 Genomic DNA Translation: EAW79296.1
    BC013354 mRNA Translation: AAH13354.1
    BC007970 mRNA Translation: AAH07970.1
    CCDSiCCDS3053.1
    PIRiJC7892
    RefSeqiNP_054768.2, NM_014049.4

    3D structure databases

    SMRiQ9H845
    ModBaseiSearch...

    Protein-protein interaction databases

    BioGridi118799, 87 interactors
    DIPiDIP-53699N
    IntActiQ9H845, 89 interactors
    MINTiQ9H845
    STRINGi9606.ENSP00000312618

    Chemistry databases

    SwissLipidsiSLP:000000619

    PTM databases

    iPTMnetiQ9H845
    PhosphoSitePlusiQ9H845
    SwissPalmiQ9H845

    Polymorphism and mutation databases

    BioMutaiACAD9
    DMDMi32469596

    Proteomic databases

    EPDiQ9H845
    jPOSTiQ9H845
    MassIVEiQ9H845
    MaxQBiQ9H845
    PaxDbiQ9H845
    PeptideAtlasiQ9H845
    PRIDEiQ9H845
    ProteomicsDBi81177

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    28976

    Genome annotation databases

    EnsembliENST00000308982; ENSP00000312618; ENSG00000177646
    GeneIDi28976
    KEGGihsa:28976
    UCSCiuc003ela.5 human

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    28976
    DisGeNETi28976

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    ACAD9
    HGNCiHGNC:21497 ACAD9
    HPAiHPA037716
    HPA046720
    MalaCardsiACAD9
    MIMi611103 gene
    611126 phenotype
    neXtProtiNX_Q9H845
    OpenTargetsiENSG00000177646
    Orphaneti99901 Acyl-CoA dehydrogenase 9 deficiency
    PharmGKBiPA134900655

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG0137 Eukaryota
    COG1960 LUCA
    GeneTreeiENSGT00940000157312
    HOGENOMiHOG000131665
    InParanoidiQ9H845
    KOiK15980
    OMAiPIGKMEG
    OrthoDBi819314at2759
    PhylomeDBiQ9H845
    TreeFamiTF105053

    Enzyme and pathway databases

    ReactomeiR-HSA-6799198 Complex I biogenesis
    SABIO-RKiQ9H845

    Miscellaneous databases

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    ACAD9

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

    More...
    GenomeRNAii
    28976
    PharosiQ9H845

    Protein Ontology

    More...
    PROi
    PR:Q9H845

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000177646 Expressed in 197 organ(s), highest expression level in upper arm skin
    ExpressionAtlasiQ9H845 baseline and differential
    GenevisibleiQ9H845 HS

    Family and domain databases

    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
    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, 2 hits
    SSF56645 SSF56645, 1 hit
    PROSITEiView protein in PROSITE
    PS00072 ACYL_COA_DH_1, 1 hit
    PS00073 ACYL_COA_DH_2, 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 nameiACAD9_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: Q9H845
    Secondary accession number(s): D3DNB8, Q8WXX3
    <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: July 3, 2003
    Last sequence update: March 1, 2001
    Last modified: October 16, 2019
    This is version 168 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    2. SIMILARITY comments
      Index of protein domains and families
    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. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
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