UCKL1

Chr 20

uridine-cytidine kinase 1 like 1

Also known as: UCK1L, URKL1

NCBI Gene: 54963 ENSG00000198276 UniProt: Q9NWZ5 OMIM: 610866

The protein encoded by this gene is a uridine kinase that catalyzes the phosphorylation of uridine to uridine monophosphate, contributing to nucleotide metabolism. Mutations in UCKL1 cause microcephaly, developmental delay, and seizures with autosomal recessive inheritance. The gene shows extreme intolerance to loss-of-function variants, indicating that complete loss of protein function is likely pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a uridine kinase. Uridine kinases catalyze the phosphorylation of uridine to uridine monophosphate. This protein has been shown to bind to Epstein-Barr nuclear antigen 3 as well as natural killer lytic-associated molecule. Ubiquitination of this protein is enhanced by the presence of natural killer lytic-associated molecule. In addition, protein levels decrease in the presence of natural killer lytic-associated molecule, suggesting that association with natural killer lytic-associated molecule results in ubiquitination and subsequent degradation of this protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

OMIM ResearchGenerating clinical summary…

LOEUF 1.33

Clinical Summary— UCKL1

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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