TK1 Gene - Thymidine Kinase 1
A key enzyme in nucleotide metabolism and a biomarker for cell proliferation and cancer prognosis.
Gene Information Card
| Symbol | TK1 |
|---|---|
| Full Name | Thymidine Kinase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 7083 ncbi.nlm.nih.gov/gene/7083 |
| Ensembl ID | ENSG00000167900 |
| UniProt ID | P04183 |
| OMIM ID | 188250 |
| HGNC ID | 11830 |
| Aliases | TK2, TKI |
Description
The TK1 gene encodes thymidine kinase 1, a cytosolic enzyme involved in the salvage pathway of pyrimidine nucleotide synthesis. It catalyzes the phosphorylation of thymidine to thymidine monophosphate, a critical step in DNA replication. TK1 expression is cell cycle-dependent, peaking during S phase, and is widely used as a serum biomarker for cell proliferation and prognosis in various cancers, including breast, lung, and hematologic malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Elevated TK1 activity correlates with increased cell proliferation and poor prognosis. | ClinVar, NCBI |
| Non-Hodgkin Lymphoma | Serum TK1 levels are used as a prognostic marker for disease progression and treatment response. | ClinVar, NCBI |
| Lung Cancer | High TK1 expression is associated with aggressive tumor behavior and reduced survival. | ClinVar, NCBI |
| Colorectal Cancer | TK1 overexpression linked to tumor growth and metastasis. | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Lymph Node | 8.3 | Medium |
| Spleen | 6.7 | Medium |
| Thymus | 5.1 | Low |
| Liver | 2.3 | Low |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line; high proliferation |
| MCF7 | 11.8 | Breast cancer cell line; estrogen receptor positive |
| A549 | 9.4 | Lung cancer cell line |
| K562 | 14.1 | Chronic myeloid leukemia cell line |
| HEK293 | 4.3 | Embryonic kidney; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Reduced enzyme activity; potential loss of function |
| c.265G>A | Missense | Rare | Altered substrate binding; uncertain significance |
| c.430C>T | Nonsense | Rare | Premature truncation; loss of function |
| c.536T>C | Missense | Rare | Decreased stability; reduced activity |
Mutation functional classification
Loss of Function (LOF)
Mutations such as nonsense or missense variants that reduce or eliminate thymidine kinase activity, impairing nucleotide salvage.
Gain of Function (GOF)
Not well documented; TK1 overexpression in cancer is typically due to transcriptional upregulation rather than activating mutations.
Dominant Negative (DN)
No known dominant-negative mutations reported for TK1.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • thymidine kinase activity |
| • nucleotide salvage | • DNA replication |
| • cell cycle | • kinase activity |
Pathways
• Pyrimidine salvage pathway
• Nucleotide metabolism
• DNA replication
Protein Summary
Thymidine kinase 1 (TK1) is a 25.5 kDa cytosolic enzyme that phosphorylates thymidine to thymidine monophosphate using ATP. It is a homodimer with a Rossmann fold domain. TK1 activity is tightly regulated during the cell cycle, with peak expression in S phase. The protein is a well-established biomarker for cell proliferation and is used clinically to monitor cancer progression and treatment efficacy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STK11 Knockout HEK293 Cell Line | EDJ-KQ869 | Human | 6794 | Details Get a Quote |
| GSTK1 Knockout HEK293 Cell Line | EDJ-KQ1073 | Human | 373156 | Details Get a Quote |
| STK10 Knockout HEK293 Cell Line | EDJ-KQ2220 | Human | 6793 | Details Get a Quote |
| STK17A Knockout HEK293 Cell Line | EDJ-KQ2763 | Human | 9263 | Details Get a Quote |
| TK1 Knockout HEK293 Cell Line | EDJ-KQ5934 | Human | 7083 | Details Get a Quote |
| STK17B Knockout HEK293 Cell Line | EDJ-KQ6527 | Human | 9262 | Details Get a Quote |
| STK11IP Knockout HEK293 Cell Line | EDJ-KQ7462 | Human | 114790 | Details Get a Quote |
| GSTK1 Knockout A-549 Cell Line | EDJ-KQ20208 | Human | 373156 | Details Get a Quote |
| GSTK1 Knockout HCT 116 Cell Line | EDJ-KQ20209 | Human | 373156 | Details Get a Quote |
| GSTK1 Knockout HeLa Cell Line | EDJ-KQ20210 | Human | 373156 | Details Get a Quote |
| STK11 Knockout A-549 Cell Line | EDJ-KQ19681 | Human | 6794 | Details Get a Quote |
| STK11 Knockout HCT 116 Cell Line | EDJ-KQ19682 | Human | 6794 | Details Get a Quote |
| STK11 Knockout HeLa Cell Line | EDJ-KQ19683 | Human | 6794 | Details Get a Quote |
| STK10 Knockout A-549 Cell Line | EDJ-KQ22491 | Human | 6793 | Details Get a Quote |
| STK10 Knockout HCT 116 Cell Line | EDJ-KQ22492 | Human | 6793 | Details Get a Quote |
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