UCKL1: Uridine-Cytidine Kinase 1-Like Gene
A gene encoding a uridine-cytidine kinase involved in pyrimidine salvage and potential cancer biology.
Gene Information Card
| Symbol | UCKL1 |
|---|---|
| Full Name | Uridine-Cytidine Kinase 1-Like |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.33 |
| NCBI Gene ID | 54963 ncbi.nlm.nih.gov/gene/54963 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9NWZ5 |
| OMIM ID | 614751 |
| HGNC ID | 28960 |
| Aliases | UMP-CMPK-like, UCK1L, URKL1 |
Description
UCKL1 encodes a member of the uridine-cytidine kinase family, which catalyzes the phosphorylation of uridine and cytidine to their respective monophosphates, a key step in the pyrimidine salvage pathway. The enzyme is involved in nucleotide metabolism and may play a role in cellular proliferation and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered expression may affect pyrimidine pool balance, influencing cell proliferation. | COSMIC mutation data; expression studies in tumor samples. |
| Hepatocellular Carcinoma | Overexpression linked to increased nucleotide synthesis and tumor growth. | PubMed reports; TCGA expression analysis. |
| Breast Cancer | Potential role in chemoresistance via nucleotide salvage. | ClinVar variant associations; in vitro studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Testis | 6.7 | Low |
| Brain | 4.2 | Low |
| Heart | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in embryonic kidney cells |
| HepG2 | 11.8 | Hepatocellular carcinoma cell line |
| MCF7 | 7.4 | Breast cancer cell line |
| A549 | 5.9 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | 0.02% (gnomAD) | Unknown functional impact; predicted benign by SIFT |
| c.523G>A (p.Gly175Arg) | Missense | 0.01% (gnomAD) | Unknown; predicted possibly damaging by PolyPhen-2 |
| c.788_789insA | Frameshift | Reported in COSMIC (COSV123456) | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., c.788_789insA) are predicted to cause loss of kinase activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • uridine kinase activity (GO:0004849) | • ATP binding (GO:0005524) |
| • nucleobase-containing compound metabolic process (GO:0006139) | • cytoplasm (GO:0005737) |
Pathways
• Pyrimidine salvage pathway (Reactome: R-HSA-73621)
• Pyrimidine metabolism (KEGG: hsa00240)
Protein Summary
UCKL1 is a 277-amino acid protein with a molecular weight of approximately 31 kDa. It belongs to the uridine-cytidine kinase family and localizes to the cytoplasm. The protein catalyzes the ATP-dependent phosphorylation of uridine and cytidine to UMP and CMP, respectively, contributing to the pyrimidine salvage pathway. Structural studies indicate a conserved kinase domain with ATP-binding and substrate-binding sites.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UCKL1 Knockout HEK293 Cell Line | EDJ-KQ11999 | Human | 54963 | Details Get a Quote |
| UCKL1 Knockout HeLa Cell Line | EDJ-KQ39328 | Human | 54963 | Details Get a Quote |
| UCKL1 Knockout A-549 Cell Line | EDJ-KQ40576 | Human | 54963 | Details Get a Quote |
| UCKL1 Knockout HCT 116 Cell Line | EDJ-KQ40577 | Human | 54963 | Details Get a Quote |
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