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Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the alpha subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. [provided by RefSeq, Jul 2008]
IDH3A (Isocitrate Dehydrogenase (NAD(+)) 3 Catalytic Subunit Alpha) is a Protein Coding gene. Diseases associated with IDH3A include Retinitis Pigmentosa and Inhibited Female Orgasm. Among its related pathways are Citrate cycle (TCA cycle) and Metabolism. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. An important paralog of this gene is IDH3G.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000287 | magnesium ion binding | IEA,IDA | 28098230 |
GO:0004449 | isocitrate dehydrogenase (NAD+) activity | IBA,IDA | 28098230 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0016616 | oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | HDA | 21630459 |
GO:0005739 | mitochondrion | IDA | -- |
GO:0005759 | mitochondrial matrix | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Citrate cycle (TCA cycle) |
.01
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2 | Carbon metabolism | ||
3 | Pyruvate metabolism and Citric Acid (TCA) cycle |
.01
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4 | Metabolism |
.40
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5 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | NAS | 8833160 |
GO:0006099 | tricarboxylic acid cycle | TAS | -- |
GO:0006102 | isocitrate metabolic process | IBA | 21873635 |
GO:0055114 | oxidation-reduction process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Manganese | Approved | Nutra | Target | 56 | ||
NADH | Approved | Nutra | Target | 0 | ||
Copper | Approved, Investigational | Pharma | Target | 249 | ||
Xanthinol | Approved, Withdrawn | Pharma | Target, cofactor | 0 | ||
Carbon dioxide | Approved, Investigational, Vet_approved | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Hydrogen Ion |
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ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · | 12b | · | 12c | · | 12d | · | 12e | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP16: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP17: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP18: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP19: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP20: |
ExUns: | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16a | · | 16b |
---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||
SP2: | |||||||||||
SP3: | |||||||||||
SP4: | |||||||||||
SP5: | |||||||||||
SP6: | |||||||||||
SP7: | |||||||||||
SP8: | |||||||||||
SP9: | |||||||||||
SP10: | |||||||||||
SP11: | |||||||||||
SP12: | |||||||||||
SP13: | |||||||||||
SP14: | |||||||||||
SP15: | |||||||||||
SP16: | |||||||||||
SP17: | |||||||||||
SP18: | |||||||||||
SP19: | |||||||||||
SP20: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | IDH3A 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | IDH3A 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | IDH3A 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | IDH3A 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | IDH3A 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Idh3a 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Idh3a 30 |
|
||
Chicken (Gallus gallus) |
Aves | IDH3A 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | IDH3A 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | idh3a 30 |
|
||
MGC76128 30 |
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African clawed frog (Xenopus laevis) |
Amphibia | Xl.15952 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | idh3a 30 31 |
|
OneToOne | |
zgc56380 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9912 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG12233 32 |
|
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|
l(1)G0156 30 31 |
|
OneToMany | |||
CG3483 31 32 |
|
OneToMany | |||
CG32026 31 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002728 30 |
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||
Worm (Caenorhabditis elegans) |
Secernentea | F43G9.1 32 |
|
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|
idha-1 30 31 |
|
OneToOne | |||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E03125g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | IDH2 30 31 33 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR137C 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | IDH-V 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.6781 30 |
|
||
Soybean (Glycine max) |
eudicotyledons | Gma.7251 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os01g0276100 30 |
|
||
Os.207 30 |
|
||||
Barley (Hordeum vulgare) |
Liliopsida | Hv.620 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.24979 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.3035 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU07697 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | idh2 30 |
|
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Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.8758 30 |
|
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
719655 | Benign: not provided | 78,161,708(+) | T/A | MISSENSE_VARIANT | |
795142 | Likely Benign: not provided | 78,162,286(+) | A/G | MISSENSE_VARIANT | |
795143 | Benign: not provided | 78,166,275(+) | G/A | SYNONYMOUS_VARIANT | |
812331 | Pathogenic: Retinitis pigmentosa | 78,166,196(+) | C/A | MISSENSE_VARIANT | |
812332 | Pathogenic: Retinitis pigmentosa | 78,166,223(+) | T/C | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1116464 | OTHER | inversion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
retinitis pigmentosa |
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inhibited female orgasm |
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infantile cerebellar-retinal degeneration |
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d-2-hydroxyglutaric aciduria 1 |
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2-hydroxyglutaric aciduria |
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