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FLASH GENE
Symbol TYMS contributors: mct/npt/pgu - updated : 25-08-2012
HGNC name thymidylate synthetase
HGNC id 12441
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer homomer , dimer
HOMOLOGY
interspecies homolog to murine Tyms
Homologene
FAMILY
  • thymidylate synthase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    text localized to mitochondrial matrix and inner membrane
    basic FUNCTION
  • thymidylate synthetase, pyrimidine biosynthetic pathway
  • catalyzing the conversion of deoxyuridine monophosphate to deoxythymidine monophosphate
  • primary site of action for 5-fluorouracil, 5-fluoro-2-prime-deoxyuridine, and some folate analogues
  • play a role in DNA methylation, synthesis, and repair
  • importance of the TYMS gene variants in response to 5-fluorouracil treatment
  • catalyzes the conversion of deoxyuridine monophosphate to deoxythymidine monophosphate, and is a central enzyme in the folate metabolic pathway
  • may play a protective role against the development of childhood
  • acute lymphoblastic leukemia
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism purine/pyrimidine
    signaling
  • thymidylate biosynthesis pathway, composed of SHMT2, TYMS and DHFRL1 in mitochondria
  • a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • methylenetetrahydrofolate (methylene-THF)
  • protein
  • CDKN1A (down regulation of CDKN1A)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   amplification    
    and overexpressed in esophageal squamous cell carcinoma
    tumoral       gain of function
    protect against the development of hepatocellular carcinoma
    Susceptibility
  • to cardiovascular disease
  • to high red blood cell folate and homocysteine concentrations
  • to abdominal aortic aneurysm (Giusti 2008)
  • to gastric cancer
  • to childhood acute lymphoblastic leukemia (ALL)
  • to breast cancer
  • Variant & Polymorphism insertion/deletion
  • I/D polymorphism significantly associated to high red blood cell folate and homocysteine concentrations
  • 3G-del6 haplotype showed a significant association with the gastric cancer susceptibility
  • TSER polymorphism may increase susceptibility to breast cancer in the Caucasian population
  • TYMS 3R variant allele was significantly associated with a reduced risk of childhood ALL, represented by the sum of heterozygous and polymorphic homozygous genotypes
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS