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FLASH GENE
Symbol GNMT contributors: SGE/npt - updated : 13-08-2009
HGNC name glycine N-methyltransferase
HGNC id 4415
Corresponding disease
GNMT persistent isolated hypermethioninaemia
Location 6p21.1      Physical location : 42.928.499 - 42.931.617
EC.number 2.1.1.20
DNA
TYPE functioning gene
STRUCTURE 3.12 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter (CAAT box)
Binding site   transcription factor
text structure
  • one SP1 binding site, one putative CCAAT box, a CTGTCGGCTG sequence (Lee 2009)
  • a NF-Y binding site
    • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1091 32.6 295 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
     liverportal space   
    Endocrinepancreas    
    Reproductivemale systemprostate   
    Urinarykidneynephron   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text liver (periportal region)
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , tetramer
    HOMOLOGY
    interspecies homolog to murine Gnmt (92.2pc)
    homolog to rattus Gnmt (92.8pc)
    Homologene
    FAMILY
    CATEGORY enzyme , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • regulating the ratio of S adenosylmethionine to S adenosylhomocysteine and sarcosine
  • detoxification pathway in liver cells
  • favorable prognosis predictor for cholangiocarcinoma (Huang 2008)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    methionine
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GNMT
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in hepatocellular carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS