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Q9H845

- ACAD9_HUMAN

UniProt

Q9H845 - ACAD9_HUMAN

Protein

Acyl-CoA dehydrogenase family member 9, mitochondrial

Gene

ACAD9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 123 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    Has a dehydrogenase activity on palmitoyl-CoA (C16:0) and stearoyl-CoA (C18:0). It is three times more active on palmitoyl-CoA than on stearoyl-CoA. Has little activity on octanoyl-CoA (C8:0), butyryl-CoA (C4:0) or isovaleryl-CoA (5:0).

    Cofactori

    FAD.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei426 – 4261Proton acceptorBy similarity

    GO - Molecular functioni

    1. acyl-CoA dehydrogenase activity Source: InterPro
    2. flavin adenine dinucleotide binding Source: InterPro

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Ligandi

    FAD, Flavoprotein

    Enzyme and pathway databases

    SABIO-RKQ9H845.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Acyl-CoA dehydrogenase family member 9, mitochondrial (EC:1.3.99.-)
    Short name:
    ACAD-9
    Gene namesi
    Name:ACAD9
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:21497. ACAD9.

    Subcellular locationi

    Mitochondrion By similarity

    GO - Cellular componenti

    1. dendrite Source: UniProtKB
    2. mitochondrion Source: LIFEdb
    3. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency) [MIM:611126]: A metabolic disorder with variable manifestations that include dilated cardiomyopathy, liver failure, muscle weakness, neurologic dysfunction, hypoglycemia and Reye-like episodes (brain edema and vomiting that may rapidly progress to seizures, coma and death).1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi611126. phenotype.
    Orphaneti99901. Acyl-CoA dehydrogenase 9 deficiency.
    2609. Isolated NADH-CoQ reductase deficiency.
    PharmGKBiPA134900655.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini? – 621Acyl-CoA dehydrogenase family member 9, mitochondrialPRO_0000000524
    Transit peptidei1 – ?MitochondrionSequence Analysis

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei41 – 411N6-acetyllysine1 Publication
    Modified residuei92 – 921N6-succinyllysineBy similarity
    Modified residuei521 – 5211N6-acetyllysine; alternateBy similarity
    Modified residuei521 – 5211N6-succinyllysine; alternateBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ9H845.
    PaxDbiQ9H845.
    PeptideAtlasiQ9H845.
    PRIDEiQ9H845.

    PTM databases

    PhosphoSiteiQ9H845.

    Expressioni

    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.1 Publication

    Gene expression databases

    ArrayExpressiQ9H845.
    BgeeiQ9H845.
    CleanExiHS_ACAD9.
    GenevestigatoriQ9H845.

    Organism-specific databases

    HPAiHPA037716.
    HPA046720.

    Interactioni

    Subunit structurei

    Part of the mitochondrial complex I assembly (MCIA) complex. The complex comprises at least TMEM126B, NDUFAF1, ECSIT, and ACAD9 By similarity.By similarity

    Protein-protein interaction databases

    BioGridi118799. 13 interactions.
    DIPiDIP-53699N.
    IntActiQ9H845. 16 interactions.
    STRINGi9606.ENSP00000312618.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H845.
    SMRiQ9H845. Positions 38-617.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the acyl-CoA dehydrogenase family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG1960.
    HOGENOMiHOG000131665.
    HOVERGENiHBG050448.
    InParanoidiQ9H845.
    KOiK15980.
    OMAiHYLINGS.
    OrthoDBiEOG712TVX.
    PhylomeDBiQ9H845.
    TreeFamiTF105053.

    Family and domain databases

    Gene3Di1.10.540.10. 1 hit.
    2.40.110.10. 1 hit.
    InterProiIPR006089. Acyl-CoA_DH_CS.
    IPR006091. Acyl-CoA_Oxase/DH_cen-dom.
    IPR009075. AcylCo_DH/oxidase_C.
    IPR013786. AcylCoA_DH/ox_N.
    IPR009100. AcylCoA_DH/oxidase_NM_dom.
    [Graphical view]
    PfamiPF00441. Acyl-CoA_dh_1. 1 hit.
    PF02770. Acyl-CoA_dh_M. 1 hit.
    PF02771. Acyl-CoA_dh_N. 1 hit.
    [Graphical view]
    SUPFAMiSSF47203. SSF47203. 2 hits.
    SSF56645. SSF56645. 1 hit.
    PROSITEiPS00072. ACYL_COA_DH_1. 1 hit.
    PS00073. ACYL_COA_DH_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q9H845-1 [UniParc]FASTAAdd to Basket

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    MSGCGLFLRT TAAARACRGL VVSTANRRLL RTSPPVRAFA KELFLGKIKK    50
    KEVFPFPEVS QDELNEINQF LGPVEKFFTE EVDSRKIDQE GKIPDETLEK 100
    LKSLGLFGLQ VPEEYGGLGF SNTMYSRLGE IISMDGSITV TLAAHQAIGL 150
    KGIILAGTEE QKAKYLPKLA SGEHIAAFCL TEPASGSDAA SIRSRATLSE 200
    DKKHYILNGS KVWITNGGLA NIFTVFAKTE VVDSDGSVKD KITAFIVERD 250
    FGGVTNGKPE DKLGIRGSNT CEVHFENTKI PVENILGEVG DGFKVAMNIL 300
    NSGRFSMGSV VAGLLKRLIE MTAEYACTRK QFNKRLSEFG LIQEKFALMA 350
    QKAYVMESMT YLTAGMLDQP GFPDCSIEAA MVKVFSSEAA WQCVSEALQI 400
    LGGLGYTRDY PYERILRDTR ILLIFEGTNE ILRMYIALTG LQHAGRILTT 450
    RIHELKQAKV STVMDTVGRR LRDSLGRTVD LGLTGNHGVV HPSLADSANK 500
    FEENTYCFGR TVETLLLRFG KTIMEEQLVL KRVANILINL YGMTAVLSRA 550
    SRSIRIGLRN HDHEVLLANT FCVEAYLQNL FSLSQLDKYA PENLDEQIKK 600
    VSQQILEKRA YICAHPLDRT C 621
    Length:621
    Mass (Da):68,760
    Last modified:March 1, 2001 - v1
    Checksum:i064BCE0378877F54
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti397 – 3971A → V in AAL56011. (PubMed:12359260)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti477 – 4771R → Q.
    Corresponds to variant rs4494951 [ dbSNP | Ensembl ].
    VAR_033459

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    UniGeneiHs.567482.

    Genome annotation databases

    EnsembliENST00000308982; ENSP00000312618; ENSG00000177646.
    GeneIDi28976.
    KEGGihsa:28976.
    UCSCiuc003ela.4. human.

    Polymorphism databases

    DMDMi32469596.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS3053.1.
    PIRi JC7892.
    RefSeqi NP_054768.2. NM_014049.4.
    UniGenei Hs.567482.

    3D structure databases

    ProteinModelPortali Q9H845.
    SMRi Q9H845. Positions 38-617.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 118799. 13 interactions.
    DIPi DIP-53699N.
    IntActi Q9H845. 16 interactions.
    STRINGi 9606.ENSP00000312618.

    PTM databases

    PhosphoSitei Q9H845.

    Polymorphism databases

    DMDMi 32469596.

    Proteomic databases

    MaxQBi Q9H845.
    PaxDbi Q9H845.
    PeptideAtlasi Q9H845.
    PRIDEi Q9H845.

    Protocols and materials databases

    DNASUi 28976.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000308982 ; ENSP00000312618 ; ENSG00000177646 .
    GeneIDi 28976.
    KEGGi hsa:28976.
    UCSCi uc003ela.4. human.

    Organism-specific databases

    CTDi 28976.
    GeneCardsi GC03P128931.
    H-InvDB HIX0003659.
    HGNCi HGNC:21497. ACAD9.
    HPAi HPA037716.
    HPA046720.
    MIMi 611103. gene.
    611126. phenotype.
    neXtProti NX_Q9H845.
    Orphaneti 99901. Acyl-CoA dehydrogenase 9 deficiency.
    2609. Isolated NADH-CoQ reductase deficiency.
    PharmGKBi PA134900655.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1960.
    HOGENOMi HOG000131665.
    HOVERGENi HBG050448.
    InParanoidi Q9H845.
    KOi K15980.
    OMAi HYLINGS.
    OrthoDBi EOG712TVX.
    PhylomeDBi Q9H845.
    TreeFami TF105053.

    Enzyme and pathway databases

    SABIO-RK Q9H845.

    Miscellaneous databases

    GeneWikii ACAD9.
    GenomeRNAii 28976.
    NextBioi 51851.
    PROi Q9H845.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H845.
    Bgeei Q9H845.
    CleanExi HS_ACAD9.
    Genevestigatori Q9H845.

    Family and domain databases

    Gene3Di 1.10.540.10. 1 hit.
    2.40.110.10. 1 hit.
    InterProi IPR006089. Acyl-CoA_DH_CS.
    IPR006091. Acyl-CoA_Oxase/DH_cen-dom.
    IPR009075. AcylCo_DH/oxidase_C.
    IPR013786. AcylCoA_DH/ox_N.
    IPR009100. AcylCoA_DH/oxidase_NM_dom.
    [Graphical view ]
    Pfami PF00441. Acyl-CoA_dh_1. 1 hit.
    PF02770. Acyl-CoA_dh_M. 1 hit.
    PF02771. Acyl-CoA_dh_N. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47203. SSF47203. 2 hits.
    SSF56645. SSF56645. 1 hit.
    PROSITEi PS00072. ACYL_COA_DH_1. 1 hit.
    PS00073. ACYL_COA_DH_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and functional characterization of ACAD-9, a novel member of human acyl-CoA dehydrogenase family."
      Zhang J., Zhang W., Zou D., Chen G., Wan T., Zhang M., Cao X.
      Biochem. Biophys. Res. Commun. 297:1033-1042(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], CHARACTERIZATION, TISSUE SPECIFICITY.
      Tissue: Dendritic cell.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Lung and Uterus.
    5. "A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency."
      He M., Rutledge S.L., Kelly D.R., Palmer C.A., Murdoch G., Majumder N., Nicholls R.D., Pei Z., Watkins P.A., Vockley J.
      Am. J. Hum. Genet. 81:87-103(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN ACAD9 DEFICIENCY.
    6. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
      Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-41, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiACAD9_HUMAN
    AccessioniPrimary (citable) accession number: Q9H845
    Secondary accession number(s): D3DNB8, Q8WXX3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 3, 2003
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 123 of the entry and version 1 of the sequence. [Complete history]
    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.

    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. 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3