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Aliases for IVD Gene

Aliases for IVD Gene

  • Isovaleryl-CoA Dehydrogenase 2 3
  • Isovaleryl Coenzyme A Dehydrogenase 2 3
  • Isovaleryl CoA Dehydrogenase 2 3
  • Isovaleryl-CoA Dehydrogenase, Mitochondrial 3
  • EC 1.3.99.10 63
  • EC 1.3.8.4 4
  • EC 1.3.99 63
  • ACAD2 3

External Ids for IVD Gene

Previous GeneCards Identifiers for IVD Gene

  • GC15P036065
  • GC15P033593
  • GC15P038276
  • GC15P038413
  • GC15P038484
  • GC15P040697
  • GC15P017541

Summaries for IVD Gene

Entrez Gene Summary for IVD Gene

  • 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]

GeneCards Summary for IVD Gene

IVD (Isovaleryl-CoA Dehydrogenase) is a Protein Coding gene. Diseases associated with IVD include isovaleric acidemia and radiculopathy. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include flavin adenine dinucleotide binding and isovaleryl-CoA dehydrogenase activity. An important paralog of this gene is ACAD8.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IVD Gene

Genomics for IVD Gene

Regulatory Elements for IVD Gene

Genomic Location for IVD Gene

Start:
40,405,485 bp from pter
End:
40,435,947 bp from pter
Size:
30,463 bases
Orientation:
Plus strand

Genomic View for IVD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IVD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IVD Gene

Proteins for IVD Gene

  • Protein details for IVD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P26440-IVD_HUMAN
    Recommended name:
    Isovaleryl-CoA dehydrogenase, mitochondrial
    Protein Accession:
    P26440
    Secondary Accessions:
    • B2RCV5
    • B3KVI7
    • J3KR54
    • Q53XZ9
    • Q96AF6

    Protein attributes for IVD Gene

    Size:
    423 amino acids
    Molecular mass:
    46319 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homotetramer.
    SequenceCaution:
    • Sequence=BAG53799.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=EAW92413.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW92414.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW92415.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for IVD Gene

    Alternative splice isoforms for IVD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IVD Gene

Proteomics data for IVD Gene at MOPED

Post-translational modifications for IVD Gene

  • Ubiquitination at Lys55
  • Modification sites at PhosphoSitePlus

Other Protein References for IVD Gene

Domains for IVD Gene

Graphical View of Domain Structure for InterPro Entry

P26440

UniProtKB/Swiss-Prot:

IVD_HUMAN :
  • P26440
Family:
  • Belongs to the acyl-CoA dehydrogenase family.
genes like me logo Genes that share domains with IVD: view

No data available for Gene Families for IVD Gene

Function for IVD Gene

Molecular function for IVD Gene

GENATLAS Biochemistry: isovaleryl-CoA dehydrogenase,branched chain,leucine catabolism
UniProtKB/Swiss-Prot CatalyticActivity: Isovaleryl-CoA + electron-transfer flavoprotein = 3-methylcrotonyl-CoA + reduced electron-transfer flavoprotein

Enzyme Numbers (IUBMB) for IVD Gene

Gene Ontology (GO) - Molecular Function for IVD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003995 acyl-CoA dehydrogenase activity --
GO:0008470 isovaleryl-CoA dehydrogenase activity ISS --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors --
GO:0050660 flavin adenine dinucleotide binding IEA --
genes like me logo Genes that share ontologies with IVD: view

Phenotypes for IVD Gene

GenomeRNAi human phenotypes for IVD:
genes like me logo Genes that share phenotypes with IVD: view

Animal Model Products

CRISPR Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for IVD Gene

Localization for IVD Gene

Subcellular locations from UniProtKB/Swiss-Prot for IVD Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IVD Gene COMPARTMENTS Subcellular localization image for IVD gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 2
extracellular 2

Gene Ontology (GO) - Cellular Components for IVD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0031966 mitochondrial membrane --
genes like me logo Genes that share ontologies with IVD: view

Pathways for IVD Gene

genes like me logo Genes that share pathways with IVD: view

Pathways by source for IVD Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot P26440-IVD_HUMAN

  • Pathway: Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 1/3

Gene Ontology (GO) - Biological Process for IVD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006552 leucine catabolic process ISS --
GO:0008152 metabolic process --
GO:0009083 branched-chain amino acid catabolic process TAS --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with IVD: view

Compounds for IVD Gene

(36) HMDB Compounds for IVD Gene

Compound Synonyms Cas Number PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate Coenzyme A
10018-95-8
(2E)-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-CoA
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate Coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
38795-33-4

(2) Drugbank Compounds for IVD Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Coenzyme a Persulfide
target
Flavin-Adenine Dinucleotide
146-14-5 target
genes like me logo Genes that share compounds with IVD: view

Transcripts for IVD Gene

Unigene Clusters for IVD Gene

Isovaleryl-CoA dehydrogenase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IVD

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for IVD Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13a · 13b
SP1: - - - -
SP2: - - -
SP3: -
SP4:
SP5: -
SP6: -

Relevant External Links for IVD Gene

GeneLoc Exon Structure for
IVD
ECgene alternative splicing isoforms for
IVD

Expression for IVD Gene

mRNA expression in normal human tissues for IVD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for IVD Gene

SOURCE GeneReport for Unigene cluster for IVD Gene Hs.513646

genes like me logo Genes that share expressions with IVD: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for IVD Gene

Orthologs for IVD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IVD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IVD 35
  • 99.68 (n)
  • 99.53 (a)
IVD 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IVD 35
  • 89.36 (n)
  • 91.96 (a)
IVD 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IVD 35
  • 89.13 (n)
  • 91.25 (a)
IVD 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ivd 35
  • 87.33 (n)
  • 90.5 (a)
Ivd 16
Ivd 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IVD 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IVD 36
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ivd 35
  • 87.81 (n)
  • 90.97 (a)
chicken
(Gallus gallus)
Aves IVD 35
  • 78.03 (n)
  • 88.13 (a)
IVD 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IVD 36
  • 79 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.3037 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ivd 35
  • 73.85 (n)
  • 80.87 (a)
Str.3367 35
zebrafish
(Danio rerio)
Actinopterygii Dr.203 35
ivd 35
  • 70.18 (n)
  • 76.94 (a)
ivd 36
  • 73 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006780 35
  • 61.77 (n)
  • 63.51 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6638 35
  • 63.16 (n)
  • 65.91 (a)
CG6638 36
  • 63 (a)
OneToOne
CG6638 37
  • 66 (a)
worm
(Caenorhabditis elegans)
Secernentea ivd-1 35
  • 63.1 (n)
  • 67.18 (a)
ivd-1 36
  • 64 (a)
OneToOne
C02D5.1 37
  • 31 (a)
C02B10.1 37
  • 66 (a)
C37A2.3 37
  • 30 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.8864 35
soybean
(Glycine max)
eudicotyledons Gma.16423 35
thale cress
(Arabidopsis thaliana)
eudicotyledons IVD 35
  • 60.55 (n)
  • 65.76 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.1939 35
corn
(Zea mays)
Liliopsida Zm.8990 35
rice
(Oryza sativa)
Liliopsida Os.28409 35
Os05g0125500 35
  • 62.12 (n)
  • 65.01 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.27596 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02126 35
  • 59.84 (n)
  • 61.46 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3948 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3391 36
  • 68 (a)
OneToOne
Species with no ortholog for IVD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for IVD Gene

ENSEMBL:
Gene Tree for IVD (if available)
TreeFam:
Gene Tree for IVD (if available)

Paralogs for IVD Gene

Paralogs for IVD Gene

genes like me logo Genes that share paralogs with IVD: view

Variants for IVD Gene

Sequence variations from dbSNP and Humsavar for IVD Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs7207 -- 40,421,107(-) CTCCA(A/G)CATAG utr-variant-3-prime, intron-variant
rs11790 -- 40,420,538(-) AGGAC(A/G)GGAAT utr-variant-3-prime, intron-variant
rs12368 -- 40,435,837(-) TCCAA(A/G)AAGGG utr-variant-3-prime, downstream-variant-500B
rs12388 -- 40,410,717(+) TCAGT(C/T)ACGGT missense, reference, nc-transcript-variant
rs600791 -- 40,428,868(-) GAGGA(C/G)CCTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IVD Gene

Variant ID Type Subtype PubMed ID
esv34145 CNV Loss 18971310
nsv510660 CNV Loss 20534489
esv2749600 CNV Deletion 23290073

Relevant External Links for IVD Gene

HapMap Linkage Disequilibrium report
IVD
Human Gene Mutation Database (HGMD)
IVD
Locus Specific Mutation Databases (LSDB)
IVD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IVD Gene

Disorders for IVD Gene

(1) OMIM Diseases for IVD Gene (607036)

UniProtKB/Swiss-Prot

IVD_HUMAN
  • Isovaleric acidemia (IVA) [MIM:243500]: A metabolic disorder characterized by retarded psychomotor development, a peculiar odor resembling sweaty feet, an aversion to dietary protein, and pernicious vomiting, leading to acidosis and coma. The acute neonatal form leads to massive metabolic acidosis from the first days of life and rapid death. {ECO:0000269 PubMed:2063866, ECO:0000269 PubMed:22004070, ECO:0000269 PubMed:22350545, ECO:0000269 PubMed:23587913, ECO:0000269 PubMed:9665741}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for IVD Gene

isovalericacidemia (IVD deficiency),recurrent acidosis,with ketosis,mild hyperammonemia,lethargy and coma,sweety feet during episodes

Relevant External Links for IVD

Genetic Association Database (GAD)
IVD
Human Genome Epidemiology (HuGE) Navigator
IVD
genes like me logo Genes that share disorders with IVD: view

Publications for IVD Gene

  1. Nucleotide sequence of messenger RNA encoding human isovaleryl- coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts. (PMID: 2318964) Matsubara Y. … Tanaka K. (J. Clin. Invest. 1990) 3 4 23
  2. Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia. (PMID: 2063866) Vockley J. … Tanaka K. (Am. J. Hum. Genet. 1991) 2 3 4
  3. Identification of the active site catalytic residue in human isovaleryl-CoA dehydrogenase. (PMID: 7640268) Mohsen A.W. … Vockley J. (Biochemistry 1995) 3 4
  4. Structural organization of the human isovaleryl-CoA dehydrogenase gene. (PMID: 8468053) Parimoo B. … Tanaka K. (Genomics 1993) 3 4
  5. Structure of human isovaleryl-CoA dehydrogenase at 2.6-A resolution: structural basis for substrate specificity. (PMID: 9214289) Tiffany K.A. … Kim J.-J.P. (Biochemistry 1997) 3 4

Products for IVD Gene

Sources for IVD Gene

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