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FLASH GENE
Symbol MDH1 contributors: mct - updated : 13-11-2020
HGNC name malate dehydrogenase 1, NAD (soluble)
HGNC id 6970
Corresponding disease
EIEE88 epileptic encephalopathy, early infantile, 88
Location 2p15      Physical location : 63.816.121 - 63.834.328
Synonym name
  • cytosolic malate dehydrogenase
  • epididymis secretory protein Li 32
  • diiodophenylpyruvate reductase
    • Synonym symbol(s) MDH-s, MDHA, MGC:1375, MOR2, DEE88, EIEE88, HEL-S-32
    EC.number 1.1.1.37/ 1.1.1.96
    DNA
    TYPE functioning gene
    STRUCTURE 18.23 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1296 - 334 - 2019 31538237
    9 - 1296 - 353 - 2019 31538237
    8 - 1354 - 245 - 2019 31538237
    9 - 1451 - 352 - 2019 31538237
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrineparathyroid   highly
     thyroid   highly
    Nervousbrain     Homo sapiens
    Urinarybladder   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    Text heart, highly
    PROTEIN
    PHYSICAL PROPERTIES globular
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Mor2
    homolog to C.elegans f46e10.10
    intraspecies homolog to KETAR (keto acid reductase,alpha-1)
    Homologene
    FAMILY
  • IDH family, MDH subfamily
    • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria
  • catalyzing the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle
  • adipogenic differentiation may be regulated by the acetylation of MDH1 and that the acetylation of MDH1 is one of the cross-talk mechanisms between adipogenesis and the intracellular energy level
  • cytosolic MDH1 activity helps support glycolysis in actively proliferating cells and cancer
  • MPP7 and MDH1 are novel regulators of autophagy, which is thought to be responsible for pancreatic cancer cell survival
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text malate-aspartate shuttle
    PATHWAY
    metabolism
    signaling
    citric acid cycle
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, cofactor, nucleotide,
    NAD +
    protein
  • MDH1 functions likely as a transcriptional regulator for a TP53-dependent metabolic checkpoint
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE88
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in left ventricular cardiac muscle of dilated cardiomyopathy (DCM) patients
    constitutional     --over  
    in sporadic Creutzfeldt-Jakob disease (sCJD) patients
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • potential of MDH1 in combination with tau as an additional biomarker in sCJD improving diagnostic accuracy of tau markedly
    • Therapy target
    ANIMAL & CELL MODELS