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FLASH GENE
Symbol IDH1 contributors: np/mct - updated : 30-05-2014
HGNC name isocitrate dehydrogenase 1 (NADP+), soluble
HGNC id 5382
Location 2q34      Physical location : 209.100.953 - 209.119.806
Synonym name
  • NADP-dependent isocitrate dehydrogenase, cytosolic
  • NADP-dependent isocitrate dehydrogenase, peroxisomal
  • oxalosuccinate decarboxylase
  • cytosolic NADP-isocitrate dehydrogenase
  • NADP(+)-specific ICDH
  • peroxisomal isocitrate dehydrogenase
  • Synonym symbol(s) IDP, PICD, IDH, IDCD, IDPC
    EC.number 1.1.1.42
    DNA
    TYPE functioning gene
    STRUCTURE 18.85 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC389071 2 LOC389071 CREB1 2q32-q34 cAMP responsive element binding protein 1 LOC151194 2q34 similar to hepatocellular carcinoma-associated antigen HCA557b LOC391476 2 similar to PPP1R14B protein FLJ40432 2q34 hypothetical protein FLJ40432 FZD5 2q33-q34 frizzled homolog 5 (Drosophila) LOC389072 2 similar to RIKEN cDNA 9430067K14 gene; Ras GTPase-activating protein 1 (GTPase-activating protein) (GAP) (Ras p21 protein activator) (p120GAP) (RasGAP) LOC391477 2 similar to ribosomal protein L9; 60S ribosomal protein L9 LOC344471 2q34 similar to dJ999L4.1 (novel protein similar to ribosomal protein L12 (RPL12)) CRYGEP1 2q33-q35 crystallin, gamma E pseudogene 1 CRYGD 2q33-q35 crystallin, gamma D CRYGC 2q33-q35 crystallin, gamma C CRYGB 2q33-q35 crystallin, gamma B CRYGA 2q33-q35 crystallin, gamma A LOC389073 2 similar to RIKEN cDNA D630023F18 LOC130429 2q34 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) (Colon carcinoma laminin-binding protein) (NEM/1CHD4) (Multidrug resistance-associated protein MGr1-Ag) IDH1 2q32-qter isocitrate dehydrogenase 1 (NADP+), soluble PIP5K3 2q34 phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III LOC391478 2 similar to ARP2/3 complex 41 kDa subunit (P41-ARC) (Actin-related protein 2/3 complex subunit 1B) PTHR2 2q33 parathyroid hormone receptor 2 LOC130195 2q34 similar to Heat shock cognate 71 kDa protein LOC391479 2 similar to Chain  , Heat-Shock Cognate 70 Kd Protein (44 Kd Atpase N-Terminal Fragment) (E.C.3.6.1.3) Mutant With Thr 204 Replaced By Val (T204v) LOC389074 LOC391480 2 similar to PKP4 protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 2339 46.5 414 - 1998 9866202
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Nervousnervecranial nerveoptic nerve  
    Urinarybladder   highly
    Visualeyeanterior segmentcornea lowly
     eyelens   
     eyeretina   
     eyeanterior segmentiris  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES globular
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Idh1 (95.4pc)
    homolog to rattus Idh1 (96.4pc)
    Homologene
    FAMILY
  • isocitrate and isopropylmalate dehydrogenases family
  • CATEGORY enzyme , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,peroxisome
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • third step of citric acid cycle, catalyzing the oxidative decarboxylation of isocitrate to 2-oxoglutarate
  • believed to control flux through the tricarboxylic acid cycle
  • important physiological role for its allosteric activation during changes in environmental conditions )
  • may be a tumor suppressor that, when mutationally inactivated, contributes to tumorigenesis in part through induction of the HIF-1 pathway
  • may have roles in the regeneration of NADPH for intraperoxisomal reductions, as well as peroxisomal reaction that consume 2-oxoglutarate
  • cytoplasmic enzyme having a role in cytoplasmic NADPH production
  • playing an important role in the control of glucose-stimulated insulin-secretion
  • IDH1 and IDH2 mutation impairs histone demethylation and results in a block to cell differentiation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • binding one Mg2+ or one Mn2+ ion per subunit
  • protein
    cell & other
    REGULATION
    activated by SREBF1 and SREBF2
    Other activity regulated with the cholesterol and fatty acid biosynthetic patways
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    IDH1 mutations result in production of the onco-metabolite 2HG, contributing to the formation and malignant progression of gliomas
    tumoral somatic mutation   --low  
    downregulated in late-stage bladder cancers
    tumoral somatic mutation     loss of function
    homozygous G367A mutation in a case of anaplastic thyroid cancer resulting in a decreased enzymatic activity
    tumoral somatic mutation      
    heterozygous mutations occur in the majority of grade II and grade III gliomas and secondary glioblastomas
    tumoral somatic mutation      
    IDH1R132 may significantly add information regarding characterization and prognostication in acute myeloid leukemia
    tumoral somatic mutation      
    R132C substitution in enchondromatosis, Ollier disease and Maffucci disease (
    tumoral somatic mutation      
    R132H substitution in enchondromatosis, Ollier and Mafucci type
    tumoral somatic mutation      
    in chondrosarcoma
    tumoral somatic mutation      
    in giant cell tumor of bone
    Susceptibility to familial early-onset generalised osteoarthritis
    Variant & Polymorphism SNP
  • increasing the risk of familial early-onset generalised osteoarthritis
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    metabolismamino acids 
    inhibiting endogenous IDH1/2 activity could be a novel medication for D2HA patients
    cancerendocrinethyroid
    potential tumorigenic role of IDH1 that could be a new therapeutic target for thyroid cancers
    ANIMAL & CELL MODELS