| Tbio | Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial |
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 beta subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2016]
Comments
| Disease | Target Count |
|---|---|
| Disease Progression | 125 |
| Stomach Neoplasms | 282 |
| Disease | Target Count | P-value |
|---|---|---|
| malignant mesothelioma | 3163 | 5.91242629352182E-7 |
| psoriasis | 6685 | 2.90783956532812E-5 |
| ovarian cancer | 8492 | 1.70136964789055E-4 |
| Multiple myeloma | 1328 | 1.80143411409626E-4 |
| osteosarcoma | 7933 | 9.39734967356225E-4 |
| Waldenstrons macroglobulinemia | 765 | 0.00913094551728519 |
| Disease | Target Count |
|---|---|
| Retinitis pigmentosa | 156 |
| Retinitis pigmentosa 46 | 1 |
| Disease | log2 FC | p |
|---|---|---|
| Waldenstrons macroglobulinemia | 1.071 | 0.009 |
| Multiple myeloma | 1.506 | 0.000 |
| malignant mesothelioma | 1.300 | 0.000 |
| psoriasis | 1.800 | 0.000 |
| osteosarcoma | -1.049 | 0.001 |
| ovarian cancer | 1.600 | 0.000 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG |
| Macaque | OMA EggNOG Inparanoid |
| Mouse | OMA EggNOG Inparanoid |
| Rat | OMA EggNOG Inparanoid |
| Dog | OMA EggNOG Inparanoid |
| Horse | OMA EggNOG Inparanoid |
| Cow | OMA EggNOG Inparanoid |
| Pig | OMA EggNOG |
| Opossum | OMA EggNOG |
| Anole lizard | OMA Inparanoid |
| Xenopus | OMA Inparanoid |
| Zebrafish | OMA Inparanoid |
| C. elegans | OMA Inparanoid |
| S.cerevisiae | OMA Inparanoid |
| PMID | Text |
|---|---|
| 20877624 | Observational study of gene-disease association. (HuGE Navigator) |
| 20435888 | Human NAD-dependent isocitrate dehydrogenase (IDH) is a heterotetrameric mitochondrial enzyme with 2alpha:1beta:1gamma subunit ratio subunits shich share 40-52% identity in amino acid sequence. |
| 19498431 | The point mutations of isocitrate dehydrogenase are essentially unique to gliomas. |
| 18806796 | Homozygous for loss-of-function mutations in IDH3B is associated with retinitis pigmentosa. |
| 17432878 | Asp192 is needed for optimal affinity of IDH beta subunit for nicotinamide-adenine dinucleotide (NAD) substrate, but is not critical for catalysis. |
| 16737955 | active sites of the human NAD-IDH are shared between alpha and gamma subunits and between alpha and beta subunits |
| 15653693 | IDPm activity appears to be modulated through enzymatic glutathionylation and deglutathionylation during oxidative stress |
MAALSGVRWLTRALVSAGNPGAWRGLSTSAAAHAASRSQAEDVRVEGSFPVTMLPGDGVGPELMHAVKEV 1 - 70 FKAAAVPVEFQEHHLSEVQNMASEEKLEQVLSSMKENKVAIIGKIHTPMEYKGELASYDMRLRRKLDLFA 71 - 140 NVVHVKSLPGYMTRHNNLDLVIIREQTEGEYSSLEHESARGVIECLKIVTRAKSQRIAKFAFDYATKKGR 141 - 210 GKVTAVHKANIMKLGDGLFLQCCEEVAELYPKIKFETMIIDNCCMQLVQNPYQFDVLVMPNLYGNIIDNL 211 - 280 AAGLVGGAGVVPGESYSAEYAVFETGARHPFAQAVGRNIANPTAMLLSASNMLRHLNLEYHSSMIADAVK 281 - 350 KVIKVGKVRTRDMGGYSTTTDFIKSVIGHLQTKGS 351 - 385 //
| PMID | Year | Title |
|---|---|---|
| 25944712 | 2015 | N-terminome analysis of the human mitochondrial proteome. |
| 21630459 | 2011 | Proteomic characterization of the human sperm nucleus. |
| 21269460 | 2011 | Initial characterization of the human central proteome. |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. |
| 20435888 | 2010 | Each conserved active site tyr in the three subunits of human isocitrate dehydrogenase has a different function. |
| 19608861 | 2009 | Lysine acetylation targets protein complexes and co-regulates major cellular functions. |
| 19498431 | 2009 | Neuro-oncology: Isocitrate dehydrogenase mutations in low-grade gliomas. |
| 18806796 | 2008 | Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle. |
| 17974005 | 2007 | The full-ORF clone resource of the German cDNA Consortium. |
| 17567985 | 2007 | Distinct class of putative "non-conserved" promoters in humans: comparative studies of alternative promoters of human and mouse genes. |
| More... |
