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

    Gene ID: 3712, updated on 5-May-2024

    Summary

    Official Symbol
    IVDprovided by HGNC
    Official Full Name
    isovaleryl-CoA dehydrogenaseprovided by HGNC
    Primary source
    HGNC:HGNC:6186
    See related
    Ensembl:ENSG00000128928 MIM:607036; AllianceGenome:HGNC:6186
    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
    IVDH; 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 have been found for this gene. [provided by RefSeq, Aug 2017]
    Expression
    Ubiquitous expression in thyroid (RPKM 25.0), liver (RPKM 18.5) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    15q15.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (40405795..40435947)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (38212996..38243333)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (40697996..40728146)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40655530-40656030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40656031-40656531 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40659527-40660418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6330 Neighboring gene dispatched RND transporter family member 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:40673800-40674300 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:40674955-40675478 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40675479-40676000 Neighboring gene kinetochore localized astrin (SPAG5) binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9241 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40699201-40699700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40728630-40729168 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40729169-40729706 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40731858-40732395 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:40733201-40733702 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:40733703-40734202 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40737995-40738496 Neighboring gene bromo adjacent homology domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9244 Neighboring gene uncharacterized LOC124903473 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40755909-40756410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40756411-40756910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9245 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6336 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40764047-40764950 Neighboring gene carbohydrate sulfotransferase 14

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Isovaleryl-CoA dehydrogenase deficiency
    MedGen: C0268575 OMIM: 243500 GeneReviews: Classic Isovaleric Acidemia
    Compare labs

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
    EBI GWAS Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ12715, FLJ34849

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables butyryl-CoA dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables flavin adenine dinucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables isovaleryl-CoA dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables isovaleryl-CoA dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables isovaleryl-CoA dehydrogenase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in L-leucine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in L-leucine catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in L-leucine catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in L-leucine catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in branched-chain amino acid catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    isovaleryl-CoA dehydrogenase, mitochondrial
    Names
    butyryl-CoA dehydrogenase
    epididymis secretory sperm binding protein
    isovaleryl Coenzyme A dehydrogenase
    NP_001152980.2
    NP_001341526.1
    NP_001341527.2
    NP_001341528.2
    NP_001341529.2
    NP_001341530.2
    NP_002216.3
    XP_006720558.1
    XP_016877638.1
    XP_016877642.1
    XP_016877643.1
    XP_016877644.1
    XP_016877646.1
    XP_016877647.1
    XP_047288416.1
    XP_047288417.1
    XP_047288418.1
    XP_047288419.1
    XP_047288420.1
    XP_054233827.1
    XP_054233828.1
    XP_054233829.1
    XP_054233830.1
    XP_054233831.1
    XP_054233832.1
    XP_054233833.1
    XP_054233834.1
    XP_054233835.1
    XP_054233836.1
    XP_054233837.1
    XP_054233838.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_011986.2 RefSeqGene

      Range
      5311..20824
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001159508.3NP_001152980.2  isovaleryl-CoA dehydrogenase, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon in the 5' coding region compared to variant 1. The resulting shorter isoform (2) lacks an internal protein segment compared to isoform 1.
      Source sequence(s)
      AC013356, AK122922
      Consensus CDS
      CCDS53930.2
      UniProtKB/TrEMBL
      A0A0S2Z4K7, A0A384MR53
      Related
      ENSP00000417990.3, ENST00000479013.7
      Conserved Domains (1) summary
      cd01156
      Location:17390
      IVD; Isovaleryl-CoA dehydrogenase
    2. NM_001354597.3NP_001341526.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon and uses an alternate, in-frame translation start codon compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC013356, AI086669, AK122922, AK315296
      UniProtKB/TrEMBL
      A0A384MR53
      Conserved Domains (1) summary
      cd01156
      Location:26404
      IVD; Isovaleryl-CoA dehydrogenase
    3. NM_001354598.3NP_001341527.2  isovaleryl-CoA dehydrogenase, mitochondrial isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains two alternate exons in the 3' region compared to variant 1. The resulting isoform (4) has a longer and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC013356, AK315296
      UniProtKB/TrEMBL
      A0A384MR53
      Conserved Domains (1) summary
      cd01156
      Location:41380
      IVD; Isovaleryl-CoA dehydrogenase
    4. NM_001354599.3NP_001341528.2  isovaleryl-CoA dehydrogenase, mitochondrial isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate, in-frame donor splice site in the 5' coding region compared to variant 1. The resulting longer isoform (5) contains an internal protein segment not found in isoform 1.
      Source sequence(s)
      AC013356, AI086669, AK122922, AK315296, BG714533
      UniProtKB/TrEMBL
      A0A384MR53
      Conserved Domains (1) summary
      cd01156
      Location:41449
      IVD; Isovaleryl-CoA dehydrogenase
    5. NM_001354600.3NP_001341529.2  isovaleryl-CoA dehydrogenase, mitochondrial isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate, in-frame donor splice site in the 5' coding region and contains two alternate exons in the 3' region compared to variant 1. The resulting longer isoform (6) contains an internal protein segment in the 5' coding region, and has a longer and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC013356, AK315296, BG714533
      UniProtKB/TrEMBL
      A0A384MR53
      Conserved Domains (1) summary
      cd01156
      Location:41409
      IVD; Isovaleryl-CoA dehydrogenase
    6. NM_001354601.3NP_001341530.2  isovaleryl-CoA dehydrogenase, mitochondrial isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) contains an alternate 3' terminal exon compared to variant 1. The resulting isoform (7) has a longer and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC013356, AK315296
      Conserved Domains (1) summary
      cd01156
      Location:41380
      IVD; Isovaleryl-CoA dehydrogenase
    7. NM_002225.5NP_002216.3  isovaleryl-CoA dehydrogenase, mitochondrial isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript, and encodes isoform 1.
      Source sequence(s)
      AC013356, AI086669, AK315296
      Consensus CDS
      CCDS10057.3
      UniProtKB/TrEMBL
      A0A0A0MT83, A0A0S2Z422, A0A384MR53
      Related
      ENSP00000418397.3, ENST00000487418.8
      Conserved Domains (1) summary
      cd01156
      Location:41420
      IVD; Isovaleryl-CoA dehydrogenase

    RNA

    1. NR_148925.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) contains an alternate 5' terminal exon, and several alternate exons in the 3' region compared to variant 1. It is represented as non-coding because the use of an alternate, in-frame 5'-most translation start codon as used in variant 3, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC013356, KF459687

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      40405795..40435947
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432460.1XP_047288416.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X2

    2. XM_047432461.1XP_047288417.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X3

    3. XM_017022149.2XP_016877638.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X1

    4. XM_017022153.2XP_016877642.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X4

      UniProtKB/Swiss-Prot
      B2RCV5, B3KVI7, J3KR54, P26440, Q53XZ9, Q96AF6
      UniProtKB/TrEMBL
      A0A2L0RIE3
    5. XM_017022157.2XP_016877646.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X9

    6. XM_047432462.1XP_047288418.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X7

    7. XM_006720495.4XP_006720558.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X11

      Conserved Domains (1) summary
      cl09933
      Location:44323
      ACAD; Acyl-CoA dehydrogenase
    8. XM_017022154.3XP_016877643.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X5

      UniProtKB/TrEMBL
      A0A384MR53
    9. XM_047432464.1XP_047288420.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X10

    10. XM_017022155.3XP_016877644.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X6

      UniProtKB/Swiss-Prot
      B2RCV5, B3KVI7, J3KR54, P26440, Q53XZ9, Q96AF6
      UniProtKB/TrEMBL
      A0A2L0RIE3
      Conserved Domains (1) summary
      cd01156
      Location:44411
      IVD; Isovaleryl-CoA dehydrogenase
    11. XM_047432463.1XP_047288419.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X8

    12. XM_017022158.3XP_016877647.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X12

    RNA

    1. XR_007064441.1 RNA Sequence

    2. XR_007064442.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      38212996..38243333
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377852.1XP_054233827.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X1

    2. XM_054377855.1XP_054233830.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X4

    3. XM_054377860.1XP_054233835.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X9

    4. XM_054377858.1XP_054233833.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X7

    5. XM_054377862.1XP_054233837.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X11

    6. XM_054377857.1XP_054233832.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X6

    7. XM_054377859.1XP_054233834.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X8

    8. XM_054377863.1XP_054233838.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X12

    9. XM_054377853.1XP_054233828.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X2

    10. XM_054377854.1XP_054233829.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X3

    11. XM_054377856.1XP_054233831.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X5

    12. XM_054377861.1XP_054233836.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X10

    RNA

    1. XR_008488942.1 RNA Sequence

    2. XR_008488943.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_148923.1: Suppressed sequence

      Description
      NR_148923.1: This RefSeq was removed because it represents an allelic variant that lacks a short repeat (rs368025013), rather than a splice variant.
    2. NR_148924.1: Suppressed sequence

      Description
      NR_148924.1: This RefSeq was removed because it represents an allelic variant that lacks a short repeat (rs368025013), rather than a splice variant.