Human Gene TYMS (ENST00000323274.15) from GENCODE V44
  Description: Homo sapiens thymidylate synthetase (TYMS), transcript variant 1, mRNA. (from RefSeq NM_001071)
RefSeq Summary (NM_001071): Thymidylate synthase catalyzes the methylation of deoxyuridylate to deoxythymidylate using, 10-methylenetetrahydrofolate (methylene-THF) as a cofactor. This function maintains the dTMP (thymidine-5-prime monophosphate) pool critical for DNA replication and repair. The enzyme has been of interest as a target for cancer chemotherapeutic agents. It is considered to be the primary site of action for 5-fluorouracil, 5-fluoro-2-prime-deoxyuridine, and some folate analogs. Expression of this gene and that of a naturally occurring antisense transcript, mitochondrial enolase superfamily member 1 (GeneID:55556), vary inversely when cell-growth progresses from late-log to plateau phase. Polymorphisms in this gene may be associated with etiology of neoplasia, including breast cancer, and response to chemotherapy. [provided by RefSeq, Aug 2017].
Gencode Transcript: ENST00000323274.15
Gencode Gene: ENSG00000176890.16
Transcript (Including UTRs)
   Position: hg38 chr18:657,653-673,578 Size: 15,926 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg38 chr18:657,743-672,997 Size: 15,255 Coding Exon Count: 7 

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RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:657,653-673,578)mRNA (may differ from genome)Protein (313 aa)
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-  Comments and Description Text from UniProtKB
  ID: Q53Y97_HUMAN
DESCRIPTION: RecName: Full=Thymidylate synthase; Short=TS; Short=TSase; EC=2.1.1.45;
FUNCTION: Provides the sole de novo source of dTMP for DNA biosynthesis (By similarity).
CATALYTIC ACTIVITY: 5,10-methylenetetrahydrofolate + dUMP = dihydrofolate + dTMP.
PATHWAY: Pyrimidine metabolism; dTTP biosynthesis.
SUBUNIT: Homodimer (By similarity).
SUBCELLULAR LOCATION: Cytoplasm (By similarity).
SIMILARITY: Belongs to the thymidylate synthase family. Bacterial- type ThyA subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TYMS
Diseases sorted by gene-association score: rectal neoplasm (31), dihydropyrimidine dehydrogenase deficiency* (27), malignant pleural mesothelioma (21), mucositis (17), gastrointestinal carcinoma (16), adult acute lymphocytic leukemia (16), alzheimer disease 8 (11), plasmodium malariae malaria (10), colon adenocarcinoma (10), colorectal cancer (9), hemifacial spasm (9), chronic myelocytic leukemia (7), acute lymphoblastic leukemia, childhood (6), lung cancer (6), acute lymphocytic leukemia (6), pleural cancer (5), benign mesothelioma (5), gastric cancer, somatic (5), stomach cancer (4), pancreatic cancer (3), breast cancer (3), neural tube defects (3), esophageal cancer (2), leukemia, acute lymphoblastic (1), malaria (1), gastrointestinal system cancer (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 222.66 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 520.77 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -17.3090-0.192 Picture PostScript Text
3' UTR -157.40581-0.271 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR023451 - Thymidate_synth/dCMP_Mease
IPR000398 - Thymidylate_synthase
IPR020940 - Thymidylate_synthase_AS

Pfam Domains:
PF00303 - Thymidylate synthase

ModBase Predicted Comparative 3D Structure on Q53Y97
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
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Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
AlignmentAlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003729 mRNA binding
GO:0004799 thymidylate synthase activity
GO:0005542 folic acid binding
GO:0008144 drug binding
GO:0042803 protein homodimerization activity
GO:0048037 cofactor binding

Biological Process:
GO:0006206 pyrimidine nucleobase metabolic process
GO:0006231 dTMP biosynthetic process
GO:0006417 regulation of translation
GO:0007568 aging
GO:0007623 circadian rhythm
GO:0009636 response to toxic substance
GO:0014070 response to organic cyclic compound
GO:0019088 immortalization of host cell by virus
GO:0019860 uracil metabolic process
GO:0032259 methylation
GO:0032570 response to progesterone
GO:0033189 response to vitamin A
GO:0034097 response to cytokine
GO:0042493 response to drug
GO:0045471 response to ethanol
GO:0046078 dUMP metabolic process
GO:0046653 tetrahydrofolate metabolic process
GO:0048589 developmental growth
GO:0051216 cartilage development
GO:0051384 response to glucocorticoid
GO:0051593 response to folic acid
GO:0060574 intestinal epithelial cell maturation
GO:0097421 liver regeneration

Cellular Component:
GO:0005730 nucleolus
GO:0005739 mitochondrion


-  Descriptions from all associated GenBank mRNAs
  BC083512 - Homo sapiens thymidylate synthetase, mRNA (cDNA clone MGC:88736 IMAGE:4299083), complete cds.
AK223372 - Homo sapiens mRNA for thymidylate synthetase variant, clone: FCC104A02.
BC013919 - Homo sapiens thymidylate synthetase, mRNA (cDNA clone MGC:22884 IMAGE:4048625), complete cds.
AB062290 - Homo sapiens OK/SW-cl.29 mRNA for thymidylate synthetase, complete cds.
AK314140 - Homo sapiens cDNA, FLJ94841, Homo sapiens thymidylate synthetase (TYMS), mRNA.
X02308 - Human mRNA for thymidylate synthase (EC 2.1.1.45).
BC002567 - Homo sapiens thymidylate synthetase, mRNA (cDNA clone MGC:1590 IMAGE:3138877), complete cds.
BC018858 - Homo sapiens thymidylate synthetase, mRNA (cDNA clone IMAGE:3141419).
AK292620 - Homo sapiens cDNA FLJ78114 complete cds, highly similar to Homo sapiens thymidylate synthetase, mRNA.
AB590362 - Synthetic construct DNA, clone: pFN21AE1319, Homo sapiens TYMS gene for thymidylate synthetase, without stop codon, in Flexi system.
DQ892149 - Synthetic construct clone IMAGE:100004779; FLH183476.01X; RZPDo839C12142D thymidylate synthetase (TYMS) gene, encodes complete protein.
AB077207 - Homo sapiens TS mRNA for thymidylate synthase, complete cds, cell_line:MKN45.
AB077208 - Homo sapiens TS mRNA for thymidylate synthase, complete cds, cell_line:KATO III.
BT006811 - Homo sapiens thymidylate synthetase mRNA, complete cds.
JD189860 - Sequence 170884 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00240 - Pyrimidine metabolism
hsa00670 - One carbon pool by folate
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-7184 - pyrimidine deoxyribonucleotides de novo biosynthesis
PWY-7199 - pyrimidine deoxyribonucleosides salvage
PWY-7200 - superpathway of pyrimidine deoxyribonucleoside salvage
PWY-7210 - pyrimidine deoxyribonucleotides biosynthesis from CTP
PWY-7211 - superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis
PWY66-385 - dTMP de novo biosynthesis (mitochondrial)

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000323274.1, ENST00000323274.10, ENST00000323274.11, ENST00000323274.12, ENST00000323274.13, ENST00000323274.14, ENST00000323274.2, ENST00000323274.3, ENST00000323274.4, ENST00000323274.5, ENST00000323274.6, ENST00000323274.7, ENST00000323274.8, ENST00000323274.9, hCG_1994842, NM_001071, Q53Y97, Q53Y97_HUMAN, THYA, uc010dka.1, uc010dka.2, uc010dka.3
UCSC ID: ENST00000323274.15
RefSeq Accession: NM_001071
Protein: Q53Y97 CCDS: CCDS11821.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.