DTYMK: Thymidylate Kinase
A key enzyme in nucleotide metabolism and DNA synthesis
Gene Information Card
| Symbol | DTYMK |
|---|---|
| Full Name | Deoxythymidylate Kinase |
| Gene Type | Protein coding |
| Chromosomal Location | 2q37.3 |
| NCBI Gene ID | 1841 ncbi.nlm.nih.gov/gene/1841 |
| Ensembl ID | ENSG00000168393 |
| UniProt ID | P23919 |
| OMIM ID | 188345 |
| HGNC ID | 3061 |
| Aliases | CDC8, TMPK, TYMK, dTMP kinase |
Description
DTYMK encodes thymidylate kinase, an enzyme that catalyzes the phosphorylation of deoxythymidine monophosphate (dTMP) to deoxythymidine diphosphate (dTDP) using ATP as a phosphate donor. This reaction is essential for the synthesis of dTTP, a critical nucleotide for DNA replication and repair. The enzyme is also involved in the activation of several antiviral and anticancer nucleoside analogs.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial DNA depletion syndrome 15 (MTDPS15) | Loss-of-function mutations impair dTTP synthesis, leading to mitochondrial genome instability | PMID: 31618753 |
| Cancer (various) | Overexpression or altered activity may contribute to tumor proliferation by supporting DNA synthesis | COSMIC database |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 14.2 | Medium |
| Kidney | 11.8 | Medium |
| Heart | 9.5 | Medium |
| Brain | 6.3 | Low |
| Testis | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | Cervical cancer cell line |
| HEK293 | 12.3 | Embryonic kidney cells |
| K562 | 10.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.458C>T (p.Pro153Leu) | Missense | Rare | Loss of function; associated with MTDPS15 |
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of function; associated with MTDPS15 |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Pro153Leu) reduce or abolish kinase activity, leading to mitochondrial DNA depletion.
Gain of Function (GOF)
Not reported in DTYMK.
Dominant Negative (DN)
Not reported in DTYMK.
View complete mutation data：
Gene Ontology (GO)
| • thymidylate kinase activity (GO:0004798) | • ATP binding (GO:0005524) |
| • dTDP biosynthetic process (GO:0006233) | • pyrimidine nucleotide biosynthetic process (GO:0006221) |
| • cytoplasm (GO:0005737) |
Pathways
• Pyrimidine metabolism (KEGG: hsa00240)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
Thymidylate kinase is a 212-amino acid protein that forms a homodimer. It belongs to the thymidylate kinase family and is essential for maintaining balanced dTTP pools. The enzyme is also a target for prodrug activation, as it phosphorylates nucleoside analogs such as zidovudine (AZT) and 5-fluorodeoxyuridine monophosphate.
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