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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
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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)

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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_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.