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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
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
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