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FLASH GENE
Symbol AMT contributors: mct - updated : 06-12-2016
HGNC name aminomethyltransferase (glycine cleavage system protein T)
HGNC id 473
Corresponding disease
GCE3 glycine encephalopathy 3
NKH2 hyperglycinemia 2, non ketotic
Location 3p21.31      Physical location : 49.454.211 - 49.460.111
Synonym name
  • tetrahydrofolate-requiring enzyme
  • glycine cleavage system T protein
  • Synonym symbol(s) GCE, NKH, GCST, NICN1, GCVT
    EC.number 2.1.2.10
    DNA
    TYPE functioning gene
    STRUCTURE 5.90 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Physical map
    ARIH2 3p21.2-p21.3 ariadne homolog 2 (Drosophila) PH-4 3p21.31 hypoxia-inducible factor prolyl 4-hydroxylase WDR6 15q21 WD repeat domain 6 FLJ10496 3p21.31 hypothetical protein FLJ10496 DKFZP564J0123 3p21.31 nuclear protein E3-3 IMPDH2 3p21.2 IMP (inosine monophosphate) dehydrogenase 2 FLJ20259 3p21.31 FLJ20259 protein QARS 3p21.3-p21.2 glutaminyl-tRNA synthetase USP19 3p21.3-p14.2 ubiquitin specific protease 19 LAMB2 3p21.3-p21.2 laminin, beta 2 (laminin S) FLJ12800 3p21.31 hypothetical protein FLJ12800 MGC35097 3p21.31 hypothetical protein MGC35097 LOC339834 3p21.31 hypothetical protein LOC339834 FLJ43654 3p21.31 FLJ43654 protein USP4 3p21.31 ubiquitin specific protease 4 (proto-oncogene) GPX1 3p21.2 glutathione peroxidase 1 ARHA 3p21.2 ras homolog gene family, member A TCTA 3p21 T-cell leukemia translocation altered gene AMT 3p21.2 aminomethyltransferase (glycine cleavage system protein T) NICN1 3p21.31 nicolin 1 DAG1 3p21.2-p21.1 dystroglycan 1 (dystrophin-associated glycoprotein 1) BSN 3p21.31 bassoon (presynaptic cytomatrix protein) APEH 3p21.3-p21.2 N-acylaminoacyl-peptide hydrolase MST1 3p21.31 macrophage stimulating 1 (hepatocyte growth factor-like) RNF123 3p24.3 ring finger protein 123 GMPPB 3p21.31 GDP-mannose pyrophosphorylase B IHPK1 3p21.31 inositol hexaphosphate kinase 1 LOC389117 3 similar to mouse fat 1 cadherin LOC389118 3 similar to VLLR9392 LOC389119 3 similar to RIKEN cDNA 6530418L21 UBE1L 3p21.2 ubiquitin-activating enzyme E1-like TRIP 3p21.31 TRAF interacting protein MGC8407 3p21.31 hypothetical protein MGC8407 LOC389120 3 similar to RIKEN cDNA 4921517D21 LOC285405 3p21.31 similar to RIKEN cDNA 4921517D21 MST1R 3p21.3 macrophage stimulating 1 receptor (c-met-related tyrosine kinase)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 1955 - 385 - 1994 8188235
    8 - 2083 - 359 - 1994 8188235
    8 - 2047 - 347 - 1994 8188235
    9 - 2215 - 403 - 1994 8188235
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestivemouthtongue   
    Lymphoid/Immunespleen    
     thymus    
    Nervousbrain    
    Reproductivemale systemprostate   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsensoryvisual  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    glycine cleavage T protein domain
    HOMOLOGY
    Homologene
    FAMILY the GCVT family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    basic FUNCTION
  • amino-methyltransferase, tetrahydrofolate (THF) dependent, catalyzing the third step of the glycine cleavage system
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NKH2 , GCE3
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • homozygous Amt(-/-) mice developed neural tube defects at high frequency