UCK1: Uridine-Cytidine Kinase 1
A key enzyme in pyrimidine salvage and nucleotide metabolism, implicated in cancer and mitochondrial disorders.
Gene Information Card
| Symbol | UCK1 |
|---|---|
| Full Name | Uridine-Cytidine Kinase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.13 |
| NCBI Gene ID | 83549 ncbi.nlm.nih.gov/gene/83549 |
| Ensembl ID | ENSG00000130726 |
| UniProt ID | Q9HA47 |
| OMIM ID | 609328 |
| HGNC ID | 12513 |
| Aliases | UCK, URK, UMK, UCK1L |
Description
UCK1 encodes uridine-cytidine kinase 1, a cytosolic enzyme that catalyzes the phosphorylation of uridine and cytidine to their respective monophosphates (UMP and CMP) using ATP or GTP as a phosphate donor. This is the first committed step in the pyrimidine salvage pathway, essential for nucleotide pool maintenance and RNA synthesis. The enzyme is also involved in the activation of certain nucleoside analog prodrugs used in chemotherapy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial DNA depletion syndrome (possible) | Deficient UCK1 may impair pyrimidine salvage, leading to imbalanced nucleotide pools and mitochondrial genome instability. | Inferred from functional studies; no direct OMIM entry. |
| Colorectal cancer | UCK1 overexpression correlates with poor prognosis; may promote proliferation via enhanced pyrimidine salvage. | COSMIC; PMID: 25855791 |
| Hepatocellular carcinoma | UCK1 upregulation linked to increased tumor growth and resistance to nucleoside analogs. | COSMIC; PMID: 29367642 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.3 | Medium |
| Heart | 8.1 | Medium |
| Brain | 5.2 | Low |
| Lung | 7.4 | Medium |
| Spleen | 6.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| HEK293 | 11.0 | Embryonic kidney cells |
| HeLa | 9.5 | Cervical adenocarcinoma |
| A549 | 8.3 | Lung carcinoma |
| K562 | 6.1 | Chronic myeloid leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.202C>T (p.Arg68Trp) | missense | <0.01% | Reduced kinase activity in vitro |
| c.454G>A (p.Glu152Lys) | missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting the ATP-binding site or catalytic residues (e.g., p.Arg68Trp) reduce or abolish uridine/cytidine phosphorylation.
Gain of Function (GOF)
Not reported in literature or curated databases.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Pyrimidine salvage pathway (Reactome: R-HSA-73621)
• Nucleotide metabolism (KEGG: hsa00240)
Protein Summary
UCK1 is a 277-amino-acid cytosolic enzyme that phosphorylates uridine and cytidine to UMP and CMP, using ATP or GTP. It exists as a homodimer and is essential for pyrimidine salvage. The protein contains a conserved P-loop NTPase domain. UCK1 also activates several nucleoside analog prodrugs, such as 5-fluorouridine and zebularine, making it relevant to cancer pharmacology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UCK1 Knockout HEK293 Cell Line | EDJ-KQ9859 | Human | 83549 | Details Get a Quote |
| UCK1 Knockout A-549 Cell Line | EDJ-KQ36725 | Human | 83549 | Details Get a Quote |
| UCK1 Knockout HCT 116 Cell Line | EDJ-KQ36726 | Human | 83549 | Details Get a Quote |
| UCK1 Knockout HeLa Cell Line | EDJ-KQ36727 | Human | 83549 | Details Get a Quote |
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