Property Summary

NCBI Gene PubMed Count 19
PubMed Score 13.55
PubTator Score 3.49

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

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

Gene

PANTHER Protein Class (2)

Gene RIF (7)

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

AA Sequence

MAALSGVRWLTRALVSAGNPGAWRGLSTSAAAHAASRSQAEDVRVEGSFPVTMLPGDGVGPELMHAVKEV      1 - 70
FKAAAVPVEFQEHHLSEVQNMASEEKLEQVLSSMKENKVAIIGKIHTPMEYKGELASYDMRLRRKLDLFA     71 - 140
NVVHVKSLPGYMTRHNNLDLVIIREQTEGEYSSLEHESARGVIECLKIVTRAKSQRIAKFAFDYATKKGR    141 - 210
GKVTAVHKANIMKLGDGLFLQCCEEVAELYPKIKFETMIIDNCCMQLVQNPYQFDVLVMPNLYGNIIDNL    211 - 280
AAGLVGGAGVVPGESYSAEYAVFETGARHPFAQAVGRNIANPTAMLLSASNMLRHLNLEYHSSMIADAVK    281 - 350
KVIKVGKVRTRDMGGYSTTTDFIKSVIGHLQTKGS                                       351 - 385
//

Text Mined References (22)

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.
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