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    ACADL acyl-CoA dehydrogenase long chain [ Homo sapiens (human) ]

    Gene ID: 33, updated on 15-Jun-2019

    Summary

    Official Symbol
    ACADLprovided by HGNC
    Official Full Name
    acyl-CoA dehydrogenase long chainprovided by HGNC
    Primary source
    HGNC:HGNC:88
    See related
    Ensembl:ENSG00000115361 MIM:609576
    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
    LCAD; ACAD4
    Summary
    The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in thyroid (RPKM 10.1), fat (RPKM 9.6) and 14 other tissues See more
    Orthologs

    Genomic context

    See ACADL in Genome Data Viewer
    Location:
    2q34
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (210187990..210225491, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (211052632..211090215, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene KAT8 regulatory NSL complex subunit 1 like Neighboring gene uncharacterized LOC112268429 Neighboring gene uncharacterized LOC107985977 Neighboring gene LANCL1 antisense RNA 1 Neighboring gene myosin light chain 1 Neighboring gene LanC like 1

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome-wide assessment of variability in human serum metabolism.
    NHGRI GWA Catalog
    A genome-wide perspective of genetic variation in human metabolism.
    NHGRI GWA Catalog
    An atlas of genetic influences on human blood metabolites.
    NHGRI GWA Catalog
    Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ94052

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    fatty-acyl-CoA binding IEA
    Inferred from Electronic Annotation
    more info
     
    flavin adenine dinucleotide binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    long-chain-acyl-CoA dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    long-chain-acyl-CoA dehydrogenase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    palmitoyl-CoA oxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    palmitoyl-CoA oxidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    carnitine catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    carnitine metabolic process, CoA-linked IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    carnitine metabolic process, CoA-linked ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular lipid catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    fatty acid beta-oxidation TAS
    Traceable Author Statement
    more info
     
    fatty acid beta-oxidation using acyl-CoA dehydrogenase IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    fatty acid beta-oxidation using acyl-CoA dehydrogenase ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    long-chain fatty acid catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of fatty acid biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of fatty acid oxidation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    oxidation-reduction process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    protein homotetramerization IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cholesterol metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    temperature homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    long-chain specific acyl-CoA dehydrogenase, mitochondrial
    Names
    acyl-Coenzyme A dehydrogenase, long chain
    NP_001599.1
    XP_005246574.1
    XP_016859444.1

    NCBI Reference Sequences (RefSeq)

    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_008002.1 RefSeqGene

      Range
      5001..42502
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001608.4NP_001599.1  long-chain specific acyl-CoA dehydrogenase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001599.1

      Status: REVIEWED

      Source sequence(s)
      AC006994, BC039063, DC350098
      Consensus CDS
      CCDS2389.1
      UniProtKB/Swiss-Prot
      P28330
      Related
      ENSP00000233710.3, ENST00000233710.4
      Conserved Domains (1) summary
      cd01160
      Location:55427
      LCAD; Long chain acyl-CoA dehydrogenase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      210187923..210225447 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005246517.4XP_005246574.1  long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X1

      Conserved Domains (2) summary
      cd01160
      Location:34406
      LCAD; Long chain acyl-CoA dehydrogenase
      COG1960
      Location:32406
      CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
    2. XM_017003955.1XP_016859444.1  long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X2

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