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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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UCK1
uridine-cytidine kinase 1
Chromosome 9 · 9q34.13
NCBI Gene: 83549Ensembl: ENSG00000130717.14HGNC: HGNC:14859UniProt: A0A024R8E7
27PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
uridine kinase activitycytidine kinase activityUMP salvageCTP salvageAbnormality of the skeletal systemautosomal recessive limb-girdle muscular dystrophy type 2Kopen-angle glaucomaglaucoma
✦AI Summary

UCK1 (uridine-cytidine kinase 1) catalyzes the phosphorylation of uridine and cytidine to their monophosphate forms (UMP and CMP) 1, functioning as a salvage pathway enzyme for pyrimidine metabolism. The enzyme accepts both ATP and GTP as phosphate donors 1 and phosphorylates multiple pyrimidine nucleoside analogs including 5-fluorouridine and 5-fluorocytidine 1. UCK1 has lower catalytic efficiency than its isoform UCK2, exhibiting 39-40 fold higher Km values for uridine and cytidine 2. UCK1 is primarily localized to the cell nucleus, distinct from the cytosolic localization of UCK2 3. When co-expressed with UCK2, UCK1 can sequester UCK2 in the nucleus, impairing UCK2 function 3. UCK1 protein stability is regulated through ubiquitination by E3 ligase KLHL2 and deubiquitination by USP28, with phosphorylation by ATM influencing this balance 4. Clinically, UCK1 is critical for activating the chemotherapeutic agent 5'-azacytidine (5'-AZA) in myelodysplastic syndromes and acute myeloid leukemia. Lower UCK1 expression correlates with poor treatment response and shorter overall survival in MDS patients 5. UCK1 downregulation represents a key mechanism of 5'-AZA resistance in AML 4. Unlike UCK2, UCK1 expression does not correlate with sensitivity to other pyrimidine analogs like RX-3117 6.

Sources cited
1
UCK1 phosphorylates uridine and cytidine to UMP and CMP; accepts ATP or GTP as phosphate donors; phosphorylates pyrimidine nucleoside analogs
PMID: 11306702
2
UCK1 has 39-40 fold higher Km values compared to UCK2 for uridine and cytidine substrates
PMID: 27906629
3
UCK1 localizes to cell nucleus; co-expression with UCK2 causes UCK2 nuclear sequestration and functional impairment
PMID: 27239701
4
KLHL2 E3 ligase mediates UCK1 polyubiquitination and degradation; USP28 deubiquitinase antagonizes this; ATM phosphorylation regulates this pathway
PMID: 31938050
5
Lower UCK1 expression in MDS patients correlates with poor azacitidine response and shorter overall survival
PMID: 24192812
6
RX-3117 sensitivity correlates with UCK2 expression but not UCK1 expression
PMID: 27612203
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.52Moderate
autosomal recessive limb-girdle muscular dystrophy type 2KOpen Targets
0.15Weak
open-angle glaucomaOpen Targets
0.06Suggestive
glaucomaOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.02Suggestive
acute myeloid leukemiaOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
leukemiaOpen Targets
0.01Suggestive
small cell lung carcinomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
neuroblastomaOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
acute lymphoblastic leukemiaOpen Targets
0.00Suggestive
chronic myelogenous leukemiaOpen Targets
0.00Suggestive
endometrial carcinomaOpen Targets
0.00Suggestive
fibrosarcomaOpen Targets
0.00Suggestive
gastric carcinomaOpen Targets
0.00Suggestive
Invasive Breast CarcinomaOpen Targets
0.00Suggestive
lymphomaOpen Targets
0.00Suggestive
myocardial infarctionOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ENTPD1Protein interaction98%ENTPD6Protein interaction98%ENTPD3Protein interaction98%ENTPD5Protein interaction98%TYMPProtein interaction98%UMPSProtein interaction98%
Tissue Expression6 tissues
Liver
100%
Brain
63%
Heart
57%
Ovary
49%
Lung
42%
Bone Marrow
42%
Gene Interaction Network
Click a node to explore
UCK1ENTPD1ENTPD6ENTPD3ENTPD5TYMPUMPS
PROTEIN STRUCTURE
Preparing viewer…
PDB2JEO · 2.50 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.93LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.63 [0.44–0.93]
RankingsWhere UCK1 stands among ~20K protein-coding genes
  • #12,703of 20,598
    Most Researched27
  • #8,538of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedUCK1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PMID: 20641989
1.00
2
Purification, activity, and expression levels of two uridine-cytidine kinase isoforms in neuroblastoma cell lines.
PMID: 27906629
Nucleosides Nucleotides Nucleic Acids · 2016
0.90
3
The Cytidine Analog Fluorocyclopentenylcytosine (RX-3117) Is Activated by Uridine-Cytidine Kinase 2.
PMID: 27612203
PLoS One · 2016
0.80
4
mTORC1 regulates the pyrimidine salvage pathway by controlling UCK2 turnover via the CTLH-WDR26 E3 ligase.
PMID: 39808525
Cell Rep · 2025
0.70
5
Expression of nucleoside-metabolizing enzymes in myelodysplastic syndromes and modulation of response to azacitidine.
PMID: 24192812
Leukemia · 2014
0.60