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FLASH GENE
Symbol GLUD1 contributors: mct - updated : 16-02-2013
HGNC name glutamate dehydrogenase 1
HGNC id 4335
Corresponding disease
HHF6 hyperinsulinemic hypoglycemia, familial, 6
Location 10q23.3      Physical location : 88.809.958 - 88.854.776
Synonym name
  • glutamate dehydrogenase 1, mitochondrial
  • Synonym symbol(s) GLUD, DHE3, GDH, GDH1, GLDH
    EC.number 1.4.1.3
    DNA
    TYPE functioning gene
    STRUCTURE 44.82 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site
    text structure binding sites for SP1, AP1, AP2
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 3486 - 558 - 2009 19448744
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivestomach   moderately
    Endocrineneuroendocrinepituitary  moderately
    Nervousbrain   highly Homo sapiensAdult
     brainlimbic systemhippocampus highly Homo sapiensAdult
    Reproductivemale systemtestis  moderately Homo sapiensAdult
    Respiratoryrespiratory tractlarynx  predominantly
    Skin/Tegumentskin   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  moderately
    Connectivebone  moderately
    Nervouscentral    Homo sapiensAdult
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text pancreas
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a 53 aa signal peptide (5.4kda)
  • a NAD domain
  • a GLU domain
  • mono polymer homomer , hexamer
    isoforms Precursor a 505 aa mature peptide (56 kda)
    HOMOLOGY
    interspecies homolog to rattus Glud1 (97pc)
    homolog to murine Glud1 (97.9pc)
    homolog to Drosophila Gdh (69.5pc)
    intraspecies homolog to GLUD2
    Homologene
    FAMILY Glu/leu/phe/val dehydrogenases family
    CATEGORY enzyme , signaling neurotransmitter
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text normally located in mitochondria and the rough endoplasmic reticulum
    basic FUNCTION
  • being a key enzyme linking glutamate metabolism with the Krebs cycle
  • catalyzing the oxidative deamination of 1-glutamate to 2-oxoglutarate in the mitochondrial matrix
  • functioning in nervous system in both the synthesis and the catabolism of glutamate and perhaps in ammonia detoxification
  • may be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate
  • plays an essential role in the full development of the insulin secretory response
  • might contribute to the formation of specific synapses in the hippocampus such as those formed by the projecting neurons of the entorhinal cortex
  • catalyses the reversible inter-conversion of glutamate to alpha-ketoglutarate and ammonia, thus interconnecting amino acid and carbohydrate metabolism
  • participates in the breakdown and synthesis of glutamate, the main excitatory neurotransmitter
  • SIRT4 and GLUD1 overexpression play antagonistic roles in regulating gliogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid , energetic
    signaling neurotransmission
  • mitogen metabolism leucine mediated insulin secretion
  • glutamate catabolism
  • a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • GTP
  • protein
  • interactions between HADH and GLUD1
  • CISD1 linked to activation of the insulin regulator GLUD1
  • cell & other
    REGULATION
    activated by thyroid hormones
    ADP
    inhibited by GTP
    ATP
    Other allosteric regulation
    non carboxylic Aas and metal ions
    ASSOCIATED DISORDERS
    corresponding disease(s) HHF6
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in the central nervous system affects glutamate handling without altering synaptic transmission
    constitutional     --low  
    gradual decrease in GLUD1 activity may be one of the key factors for neurodegenerative ageing processes
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Cns-Glud1(-/-) mice exhibited deficient oxidative catabolism of glutamate in astrocytes, showing that GDH is required for Krebs cycle pathway