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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]
IVD (Isovaleryl-CoA Dehydrogenase) is a Protein Coding gene. Diseases associated with IVD include Isovaleric Acidemia and Metabolic Acidosis. Among its related pathways are Valproic acid pathway and Valine, leucine and isoleucine degradation. Gene Ontology (GO) annotations related to this gene include flavin adenine dinucleotide binding and acyl-CoA dehydrogenase activity. An important paralog of this gene is ACADS.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003995 | acyl-CoA dehydrogenase activity | IEA | -- |
GO:0004085 | butyryl-CoA dehydrogenase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 32296183 |
GO:0008470 | isovaleryl-CoA dehydrogenase activity | TAS,ISS | -- |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005739 | mitochondrion | IEA | -- |
GO:0005759 | mitochondrial matrix | NAS,TAS | -- |
GO:0031966 | mitochondrial membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Valine, leucine and isoleucine degradation | ||
2 | Metabolism |
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3 | Valproic acid pathway | ||
4 | Viral mRNA Translation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006552 | leucine catabolic process | ISS | -- |
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006631 | fatty acid metabolic process | IEA | -- |
GO:0009083 | branched-chain amino acid catabolic process | TAS | -- |
GO:0033539 | fatty acid beta-oxidation using acyl-CoA dehydrogenase | IDA | 3597357 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
(2E)-Decenoyl-CoA |
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10018-95-8 |
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(2E)-Dodecenoyl-CoA |
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1066-12-2 |
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(2E)-Hexadecenoyl-CoA |
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4460-95-1 |
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(2E)-Octenoyl-CoA |
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10018-94-7 |
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(2E)-Tetradecenoyl-CoA |
|
38795-33-4 |
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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: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | IVD 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | IVD 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | IVD 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ivd 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ivd 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | IVD 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | IVD 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | IVD 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | IVD 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ivd 30 |
|
||
Str.3367 30 |
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African clawed frog (Xenopus laevis) |
Amphibia | Xl.3037 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ivd 30 31 |
|
OneToOne | |
Dr.203 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG6638 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006780 30 |
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Worm (Caenorhabditis elegans) |
Secernentea | C02B10.1 32 |
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ivd-1 30 31 |
|
OneToOne | |||
C02D5.1 32 |
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C37A2.3 32 |
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Thale Cress (Arabidopsis thaliana) |
eudicotyledons | IVD 30 |
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Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.8864 30 |
|
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Soybean (Glycine max) |
eudicotyledons | Gma.16423 30 |
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Rice (Oryza sativa) |
Liliopsida | Os05g0125500 30 |
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Os.28409 30 |
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Barley (Hordeum vulgare) |
Liliopsida | Hv.1939 30 |
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Wheat (Triticum aestivum) |
Liliopsida | Ta.27596 30 |
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Corn (Zea mays) |
Liliopsida | Zm.8990 30 |
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Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3391 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU02126 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3948 30 |
|
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
844890 | Pathogenic: Isovaleryl-CoA dehydrogenase deficiency | 40,416,292(+) |
CTG/C NM_002225.5(IVD):c.1069_1070TG[1] (p.Ala358fs) |
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT | |
851748 | Pathogenic: Isovaleryl-CoA dehydrogenase deficiency | 40,405,883(+) |
CGCCGCTT/C NM_002225.5(IVD):c.61_67del (p.Leu21fs) |
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR | |
854919 | Pathogenic: Isovaleryl-CoA dehydrogenase deficiency | 40,414,968(+) |
CG/C NM_002225.5(IVD):c.870del (p.Pro291fs) |
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT | |
855170 | Uncertain Significance: Isovaleryl-CoA dehydrogenase deficiency | 40,411,293(+) |
A/G NM_002225.5(IVD):c.490A>G (p.Met164Val) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
858356 | Uncertain Significance: Isovaleryl-CoA dehydrogenase deficiency | 40,411,359(+) |
G/A NM_002225.5(IVD):c.550+6G>A |
INTRON |
Disorder | Aliases | PubMed IDs |
---|---|---|
isovaleric acidemia |
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metabolic acidosis |
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cerebral creatine deficiency syndrome 3 |
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glycerol kinase deficiency |
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propionic acidemia |
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