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    IVD isovaleryl-CoA dehydrogenase [ Homo sapiens (human) ]

    Gene ID: 3712, updated on 22-Apr-2017
    Official Symbol
    IVDprovided by HGNC
    Official Full Name
    isovaleryl-CoA dehydrogenaseprovided by HGNC
    Primary source
    HGNC:HGNC:6186
    See related
    Ensembl:ENSG00000128928 MIM:607036; Vega:OTTHUMG00000129984
    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
    ACAD2
    Summary
    Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
    Orthologs
    Location:
    15q15.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 15 NC_000015.10 (40405485..40435948)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (40697686..40728146)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene proline, histidine and glycine rich 1 Neighboring gene dispatched RND transporter family member 2 Neighboring gene kinetochore localized astrin/SPAG5 binding protein Neighboring gene bromo adjacent homology domain containing 1 Neighboring gene carbohydrate sulfotransferase 14

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Isovaleryl-CoA dehydrogenase deficiency
    MedGen: C0268575 OMIM: 243500 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    NHGRI GWA Catalog
    Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
    NHGRI GWA Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ12715, FLJ34849

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    flavin adenine dinucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    isovaleryl-CoA dehydrogenase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    isovaleryl-CoA dehydrogenase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    branched-chain amino acid catabolic process TAS
    Traceable Author Statement
    more info
     
    leucine catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    leucine catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    mitochondrial matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    isovaleryl-CoA dehydrogenase, mitochondrial
    Names
    isovaleryl Coenzyme A dehydrogenase
    NP_001152980.1
    NP_002216.2

    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_011986.1 RefSeqGene

      Range
      5001..20827
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001159508.1NP_001152980.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_001152980.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon in the 5' region, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AC013356, AK122922
      Consensus CDS
      CCDS53930.1
      UniProtKB/Swiss-Prot
      P26440
      Related
      ENSP00000417990.2, OTTHUMP00000213748, ENST00000479013.6, OTTHUMT00000352698
      Conserved Domains (2) summary
      cd01156
      Location:20393
      IVD; Isovaleryl-CoA dehydrogenase
      COG1960
      Location:39390
      CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
    2. NM_002225.3NP_002216.2  isovaleryl-CoA dehydrogenase, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_002216.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC013356, AI086669, AK315296
      Consensus CDS
      CCDS10057.2
      UniProtKB/Swiss-Prot
      P26440
      UniProtKB/TrEMBL
      A0A0A0MT83
      Related
      ENSP00000418397.2, OTTHUMP00000160445, ENST00000487418.6, OTTHUMT00000252250
      Conserved Domains (2) summary
      cd01156
      Location:44423
      IVD; Isovaleryl-CoA dehydrogenase
      PLN02519
      Location:10419
      PLN02519; isovaleryl-CoA dehydrogenase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p7 Primary Assembly

      Range
      40405485..40435948
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022149.1XP_016877638.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X1

    2. XM_017022151.1XP_016877640.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X4

    3. XM_017022157.1XP_016877646.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X11

    4. XM_017022150.1XP_016877639.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X3

    5. XM_017022158.1XP_016877647.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X13

    6. XM_017022153.1XP_016877642.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X7

    7. XM_017022155.1XP_016877644.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X9

    8. XM_017022152.1XP_016877641.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X5

    9. XM_017022156.1XP_016877645.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X10

    10. XM_006720492.2XP_006720555.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X6

      Conserved Domains (1) summary
      cd01156
      Location:44383
      IVD; Isovaleryl-CoA dehydrogenase
    11. XM_005254350.2XP_005254407.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X2

      Conserved Domains (2) summary
      cd01156
      Location:44383
      IVD; Isovaleryl-CoA dehydrogenase
      PLN02519
      Location:10394
      PLN02519; isovaleryl-CoA dehydrogenase
    12. XM_006720495.2XP_006720558.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X12

      Conserved Domains (1) summary
      cl09933
      Location:44323
      ACAD; Acyl-CoA dehydrogenase
    13. XM_017022154.1XP_016877643.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X8

    RNA

    1. XR_429453.3 RNA Sequence

    2. XR_001751260.1 RNA Sequence

    3. XR_001751264.1 RNA Sequence

    4. XR_001751262.1 RNA Sequence

    5. XR_001751263.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      40817565..40833386
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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