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FLASH GENE
Symbol TYMS contributors: mct/npt/pgu - updated : 25-08-2012
HGNC name thymidylate synthetase
HGNC id 12441
DNA
TYPE functioning gene
SPECIAL FEATURE overlapping, gene in gene, opposite orientation
STRUCTURE 15.89 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
text structure overlapping RTYMS in opposite orientation
MAPPING cloned Y linked N status confirmed
Map pter - CETN1 - CLUL1 /D18S1140 - TYMS /ENOSF1 - YES1 - D18S1231 - ADCYAP1 - cen
Physical map
LOC388454 18 LOC388454 LOC260334 18p11 HSA18p11 beta-tubulin 4Q pseudogene IL9RP4 18p11.3 interleukin 9 receptor pseudogene 4 USP14 18p ubiquitin specific protease 14 (tRNA-guanine transglycosylase) THOC1 18p11.32 THO complex 1 COLEC12 18pter-p11.3 collectin sub-family member 12 LOC390821 18 LOC390821 CETN1 18p11.32 centrin, EF-hand protein, 1 CLUL1 18p11.32 clusterin-like 1 (retinal) TYMS 18p11.32 thymidylate synthetase HSRTSBETA 18p11.32 rTS beta protein YES1 18p11.31-p11.22 v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 ADCYAP1 18p11.31 adenylate cyclase activating polypeptide 1 (pituitary) LOC388456 18 hypothetical gene supported by BC039671 C18orf2 18p11 chromosome 18 open reading frame 2 LOC390822 18 similar to RIKEN cDNA 4921525H23 FLJ23017 HEC 18p11.31 similar to RIKEN cDNA 4921525H23 LOC388457 18 hypothetical gene supported by BC006008 KIAA0650 18p11.31 hypothetical gene supported by BC006008 EMILIN2 18p11.3 elastin microfibril interfacer 2 LPIN2 18p11.31 lipin 2 LOC390823 18 similar to 60S ribosomal protein L10 (QM protein) (Tumor suppressor QM) (Laminin receptor homolog) MYOM1 18p11.32-p11.31 myomesin 1 (skelemin) 185kDa MRCL3 18p11.31 myosin regulatory light chain MRCL3 MRLC2 18p11.31 myosin regulatory light chain MRLC2 LOC204777 18p11.31 similar to Immunoglobulin lambda-like polypeptide 1 precursor (Immunoglobulin-related 14.1 protein) (Immunoglobulin omega polypeptide) (Lambda 5) (CD179b antigen) TGIF 18p11.3 TGFB-induced factor (TALE family homeobox) LOC390824 18 similar to hypothetical protein BC007436 DLGAP1 18p11.3 discs, large (Drosophila) homolog-associated protein 1 MGC11082 18p11.31 hypothetical protein MGC11082
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 1603 35.6 313 - 2003 12706868
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivefemale systemuteruscervix highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
cell lineage
cell lines
fluid/secretion
at STAGE
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