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FLASH GENE
Symbol GATM contributors: mct - updated : 29-05-2013
HGNC name glycine amidinotransferase (L-arginine:glycine amidinotransferase)
HGNC id 4175
Corresponding disease
GATM mental retardation and severe language delay
Location 15q21.1      Physical location : 45.653.323 - 45.670.980
Synonym name
  • glycine amidinotransferase, mitochondrial
  • transamidinase
  • Synonym symbol(s) AGAT, AT
    EC.number 2.1.4.1
    DNA
    TYPE functioning gene
    STRUCTURE 17.66 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    GRP58 15q15 glucose regulated protein, 58kDa ELL3 15q15.1 elongation factor RNA polymerase II-like 3 SERF2 15q13.1 small EDRK-rich factor 2 HYPK 15q14 small EDRK-rich factor 2 MFAP1 15q15-q21 microfibrillar-associated protein 1 FLJ12973 15q15.1 hypothetical protein FLJ12973 MGC14161 15q15.1 hypothetical protein MGC14161 ACTBP7 15q15.3 actin, beta pseudogene 7 H63 15q15.1 H63 breast cancer expressed gene HSPC129 15q15.1 hypothetical protein HSPC129 EIF3S1 15q15.3 eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa FLJ21439 15q14 hypothetical protein FLJ21439 LOC197135 15q15.1 similar to RIKEN cDNA 4930424G05 B2M 15q21-q22.2 beta-2-microglobulin RNF36 15q14 ring finger protein 36 LOC116166 15q15.1 similar to Sorbitol dehydrogenase (L-iditol 2-dehydrogenase) MGC33951 15q15.1 hypothetical protein MGC33951 SORD 15q15 sorbitol dehydrogenase DUOX2 15q15.3-q21 dual oxidase 2 FLJ32334 15q15.1 hypothetical protein FLJ32334 DUOX1 15q15.3-q21 dual oxidase 1 LOC90525 15q15.1 hypothetical protein BC007586 SLC28A2 15q15 solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 GATM 15q14.2 glycine amidinotransferase (L-arginine:glycine amidinotransferase) MGC5347 15q15.1 hypothetical protein MGC5347 NMES1 15q15.1 normal mucosa of esophagus specific 1 SLC30A4 15q15-q21.1 solute carrier family 30 (zinc transporter), member 4 FLJ39426 15q15.1 hypothetical protein FLJ39426 PLDN 15q14 pallidin homolog (mouse) SQRDL 15q15 sulfide quinone reductase-like (yeast) LOC145660 15q15.1 hypothetical LOC145660
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2602 48 423 - 2006 16769397
    mitochondrial
    - - - - - - 1997 9148748
    cytoplasmic
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheartventricle   
    Digestiveliver   highly
    Endocrinepancreas   highly
    Urinarybladder   highly
     kidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Muscularstriatumcardiacmyocardium 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text placenta, spleen, cochlea
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    secondary structure five beta-beta-alpha-beta modules
    HOMOLOGY
    Homologene
    FAMILY
  • amidinotransferase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,interspace
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • first step of the creatine synthesis resulting in the formation of guanidinoacetate
  • major part of endogenous synthesis of creatine is thought to occur in kidney, pancreas and liver, the brain widely expresses GATM, GAMT and SLC6A8, both during development and in adulthood
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism energetic
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GATM
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in all heart failure
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cardiovascular  
    specific response to heart failure involving elevated local creatine synthesis (implications both for the management of recovery patients undergoing combination therapy and for heart failure in general)
    ANIMAL & CELL MODELS
  • Agat-deficient mice exhibited decreased fat deposition, attenuated gluconeogenesis, reduced cholesterol levels, enhanced glucose tolerance, and reduced muscular nucleoside triphosphate (NTP) concentrations compared with wt mice