TYW1

Chr 7

tRNA-yW synthesizing protein 1 homolog

Also known as: RSAFD1, TYW1A, YPL207W

NCBI Gene: 55253 ENSG00000198874 UniProt: Q9NV66 OMIM: 611243

This enzyme catalyzes the condensation of N-methylguanine with pyruvate to form 4-demethylwyosine, an intermediate in the biosynthesis of wybutosine, a hypermodified guanosine that stabilizes codon-anticodon interactions in phenylalanine tRNA. Disease associations and inheritance patterns have not been established for TYW1 mutations. The extremely low pLI score suggests this gene may tolerate loss-of-function variants in humans.

OMIM ResearchSummary from RefSeq, UniProt, Mechanism

Wybutosine (yW) is a hypermodified guanosine found in phenylalanine tRNA adjacent to the anticodon that stabilizes codon-anticodon interactions in the ribosome. In yeast, the homolog of this gene is essential for the synthesis of wybutosine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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