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

Gene ID: 3712, updated on 21-Mar-2015
Official Symbol
IVDprovided by HGNC
Official Full Name
isovaleryl-CoA dehydrogenaseprovided by HGNC
Primary source
HGNC:HGNC:6186
See related
Ensembl:ENSG00000128928; HPRD:09516; 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
See IVD in MapViewer
Location:
15q14-q15
Exon count:
16
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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/glycine-rich 1 Neighboring gene dispatched homolog 2 (Drosophila) Neighboring gene kinetochore-localized astrin/SPAG5 binding protein Neighboring gene bromo adjacent homology domain containing 1 Neighboring gene carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Isovaleryl-CoA dehydrogenase deficiency
MedGen: C0268575 OMIM: 243500 GeneReviews: Organic Acidemias Overview
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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
 
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
 
cellular nitrogen compound metabolic 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
 
small molecule metabolic process TAS
Traceable Author Statement
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
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
Preferred Names
isovaleryl-CoA dehydrogenase, mitochondrial
Names
isovaleryl-CoA dehydrogenase, mitochondrial
isovaleryl CoA dehydrogenase
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 proteins identical to 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, OTTHUMP00000213748, ENST00000479013, OTTHUMT00000352698
    Conserved Domains (2) summary
    cd01156
    Location:20393
    IVD; Isovaleryl-CoA dehydrogenase
    COG1960
    Location:39390
    CaiA; Acyl-CoA dehydrogenases [Lipid metabolism]
  2. NM_002225.3NP_002216.2  isovaleryl-CoA dehydrogenase, mitochondrial isoform 1 precursor

    See proteins identical to 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/TrEMBL
    A0A0A0MT83
    UniProtKB/Swiss-Prot
    P26440
    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 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006720492.2XP_006720555.1  

    Conserved Domains (1) summary
    cd01156
    Location:44383
    IVD; Isovaleryl-CoA dehydrogenase
  2. XM_005254350.2XP_005254407.1  

    Conserved Domains (2) summary
    cd01156
    Location:44383
    IVD; Isovaleryl-CoA dehydrogenase
    PLN02519
    Location:10394
    PLN02519; isovaleryl-CoA dehydrogenase
  3. XM_006720493.2XP_006720556.1  

    Conserved Domains (1) summary
    cd01156
    Location:44382
    IVD; Isovaleryl-CoA dehydrogenase
  4. XM_006720495.2XP_006720558.1  

    Conserved Domains (1) summary
    cl09933
    Location:44323
    ACAD; Acyl-CoA dehydrogenase
  5. XM_005254356.2XP_005254413.1  

    Conserved Domains (1) summary
    cl09933
    Location:44264
    ACAD; Acyl-CoA dehydrogenase
  6. XM_011521523.1XP_011519825.1  

    Conserved Domains (1) summary
    cd01156
    Location:44383
    IVD; Isovaleryl-CoA dehydrogenase
  7. XM_006720494.2XP_006720557.1  

    Conserved Domains (2) summary
    cd01156
    Location:44382
    IVD; Isovaleryl-CoA dehydrogenase
    PLN02519
    Location:10386
    PLN02519; isovaleryl-CoA dehydrogenase
  8. XM_011521524.1XP_011519826.1  

    Conserved Domains (1) summary
    cl09933
    Location:44264
    ACAD; Acyl-CoA dehydrogenase
  9. XM_006720491.2XP_006720554.1  

    Conserved Domains (1) summary
    cd01156
    Location:26364
    IVD; Isovaleryl-CoA dehydrogenase

RNA

  1. XR_429453.2 RNA Sequence

  2. XR_243098.2 RNA Sequence

  3. XR_243097.3 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 Alternate CHM1_1.1

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