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    ACAD9 acyl-CoA dehydrogenase family member 9 [ Homo sapiens (human) ]

    Gene ID: 28976, updated on 8-Jul-2021

    Summary

    Official Symbol
    ACAD9provided by HGNC
    Official Full Name
    acyl-CoA dehydrogenase family member 9provided by HGNC
    Primary source
    HGNC:HGNC:21497
    See related
    Ensembl:ENSG00000177646 MIM:611103
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NPD002; MC1DN20
    Summary
    This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
    Expression
    Ubiquitous expression in skin (RPKM 14.5), fat (RPKM 6.4) and 25 other tissues See more
    Orthologs
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    Genomic context

    See ACAD9 in Genome Data Viewer
    Location:
    3q21.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (128879596..128913114)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (128598463..128631957)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene microtubule affinity regulating kinase 2 pseudogene 6 Neighboring gene intraflagellar transport 122 homolog (Chlamydomonas) pseudogene Neighboring gene cilia and flagella associated protein 92 (putative) Neighboring gene EF-hand and coiled-coil domain containing 1 Neighboring gene jumonji domain containing 4 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ23533, MGC14452

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables fatty-acyl-CoA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables flavin adenine dinucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables long-chain-acyl-CoA dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables medium-chain-acyl-CoA dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables very-long-chain-acyl-CoA dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    complex I assembly factor ACAD9, mitochondrial
    Names
    acyl-Coenzyme A dehydrogenase family, member 9
    very-long-chain acyl-CoA dehydrogenase VLCAD

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_017064.1 RefSeqGene

      Range
      5131..38625
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014049.5NP_054768.2  complex I assembly factor ACAD9, mitochondrial

      See identical proteins and their annotated locations for NP_054768.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the functional protein.
      Source sequence(s)
      BC007970, BC013354, DA630022
      Consensus CDS
      CCDS3053.1
      UniProtKB/Swiss-Prot
      Q9H845
      Related
      ENSP00000312618.7, ENST00000308982.12
      Conserved Domains (1) summary
      cd01161
      Location:38445
      VLCAD; Very long chain acyl-CoA dehydrogenase

    RNA

    1. NR_033426.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an addition segment in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK297952, BC007970, DA630022
      Related
      ENST00000511227.5

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      128879596..128913114
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024453484.1XP_024309252.1  complex I assembly factor ACAD9, mitochondrial isoform X1

      Related
      ENSP00000506228.1, ENST00000679715.1
      Conserved Domains (1) summary
      cl09933
      Location:1322
      ACAD; Acyl-CoA dehydrogenase
    2. XM_024453485.1XP_024309253.1  complex I assembly factor ACAD9, mitochondrial isoform X1

      Conserved Domains (1) summary
      cl09933
      Location:1322
      ACAD; Acyl-CoA dehydrogenase

    RNA

    1. XR_427367.3 RNA Sequence

      Related
      ENST00000681585.1
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