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    ACADM acyl-CoA dehydrogenase medium chain [ Homo sapiens (human) ]

    Gene ID: 34, updated on 17-Jun-2019

    Summary

    Official Symbol
    ACADMprovided by HGNC
    Official Full Name
    acyl-CoA dehydrogenase medium chainprovided by HGNC
    Primary source
    HGNC:HGNC:89
    See related
    Ensembl:ENSG00000117054 MIM:607008
    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
    MCAD; ACAD1; MCADH
    Summary
    This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 85.4), heart (RPKM 68.4) and 25 other tissues See more
    Orthologs

    Genomic context

    See ACADM in Genome Data Viewer
    Location:
    1p31.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (75724347..75763679)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (76190043..76229355)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 44 member 5 Neighboring gene ribosomal protein L29 pseudogene 5 Neighboring gene diphosphoinositol pentakisphosphate kinase 2 pseudogene Neighboring gene dihydrolipoamide S-succinyltransferase pseudogene 1 Neighboring gene small nucleolar RNA, C/D box 45C Neighboring gene small nucleolar RNA, C/D box 45A Neighboring gene Rab geranylgeranyltransferase subunit beta

    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 perspective of genetic variation in human metabolism.
    NHGRI GWA Catalog
    An atlas of genetic influences on human blood metabolites.
    NHGRI GWA Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ18227, FLJ93013, FLJ99884

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    acyl-CoA dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acyl-CoA dehydrogenase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    flavin adenine dinucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    medium-chain-acyl-CoA dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    medium-chain-acyl-CoA dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    carnitine biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    carnitine metabolic process, CoA-linked IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    fatty acid beta-oxidation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    fatty acid beta-oxidation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    fatty acid beta-oxidation TAS
    Traceable Author Statement
    more info
     
    fatty acid beta-oxidation using acyl-CoA dehydrogenase IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fatty acid beta-oxidation using acyl-CoA dehydrogenase IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    medium-chain fatty acid catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    medium-chain fatty acid catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    medium-chain fatty acid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidation-reduction process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of lipid metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    nucleus HDA PubMed 

    General protein information

    Preferred Names
    medium-chain specific acyl-CoA dehydrogenase, mitochondrial
    Names
    acyl-CoA dehydrogenase, C-4 to C-12 straight chain
    acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain
    medium-chain acyl-CoA dehydrogenase
    testicular tissue protein Li 7
    NP_000007.1
    NP_001120800.1
    NP_001272971.1
    NP_001272972.1
    NP_001272973.1

    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_007045.2 RefSeqGene

      Range
      4990..44322
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_838

    mRNA and Protein(s)

    1. NM_000016.5NP_000007.1  medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform a precursor

      See identical proteins and their annotated locations for NP_000007.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AL357314, BC005377
      Consensus CDS
      CCDS668.1
      UniProtKB/Swiss-Prot
      P11310
      UniProtKB/TrEMBL
      A0A0S2Z366
      Related
      ENSP00000359878.4, ENST00000370841.8
      Conserved Domains (1) summary
      cd01157
      Location:41418
      MCAD; Medium chain acyl-CoA dehydrogenase
    2. NM_001127328.2NP_001120800.1  medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform b precursor

      See identical proteins and their annotated locations for NP_001120800.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is longer than isoform a.
      Source sequence(s)
      AF251043, AL357314
      Consensus CDS
      CCDS44165.1
      UniProtKB/Swiss-Prot
      P11310
      Related
      ENSP00000409612.2, ENST00000420607.6
      Conserved Domains (2) summary
      cd01157
      Location:45422
      MCAD; Medium chain acyl-CoA dehydrogenase
      COG1960
      Location:43424
      CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
    3. NM_001286042.1NP_001272971.1  medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform c

      See identical proteins and their annotated locations for NP_001272971.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks an exon in the 5' coding region. These difference cause translation initiation at an alternate start codon compared to variant 1. The encoded isoform (c) is shorter and has a distinct N-terminus compared to isoform (a).
      Source sequence(s)
      AK315946, AL357314, DB055575
      Consensus CDS
      CCDS65562.1
      UniProtKB/TrEMBL
      B7Z9I1
      Related
      ENSP00000442324.1, ENST00000541113.5
      Conserved Domains (2) summary
      cd01157
      Location:5382
      MCAD; Medium chain acyl-CoA dehydrogenase
      COG1960
      Location:1384
      CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
    4. NM_001286043.1NP_001272972.1  medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform d precursor

      See identical proteins and their annotated locations for NP_001272972.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate in-frame exon in the central coding region compared to variant 1. The encoded isoform (d) is longer than isoform 1.
      Source sequence(s)
      AL357314, BX647734
      Consensus CDS
      CCDS72807.1
      UniProtKB/TrEMBL
      Q5HYG7, Q5T4U5
      Related
      ENSP00000359871.5, ENST00000370834.9
      Conserved Domains (2) summary
      cd01157
      Location:41451
      MCAD; Medium chain acyl-CoA dehydrogenase
      COG1960
      Location:39453
      CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
    5. NM_001286044.1NP_001272973.1  medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform e

      See identical proteins and their annotated locations for NP_001272973.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate 5' structure that results in the use downstream AUG compared to variant 1. The encoded isoform (e) has a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AK296045, AL357314
      UniProtKB/TrEMBL
      B4DJE7
      Conserved Domains (2) summary
      COG1960
      Location:1231
      CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
      cl09933
      Location:1229
      ACAD; 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_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      75724347..75763679
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_022013.1: Suppressed sequence

      Description
      NR_022013.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
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