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TYW1

Chr 7q11.21

tRNA-yW synthesizing protein 1 homolog

Aliases:
FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A
MANE:
ENST00000359626.10

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Childhood onset hereditary spastic paraplegia

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Severe microcephaly

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Alzheimer disease

    0.30
  • trauma complication

    0.29
  • cerebral palsy

    0.25
  • obesity disorder

    0.25
  • malunion fracture

    0.23
  • microcephaly

    0.19
  • Intellectual disability

    0.19
  • cardiomyopathy

    0.18
  • poisoning

    0.18
  • smoking initiation

    0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1

Involved in the biosynthesis of wybutosine, a hyper modified guanosine with a tricyclic base located at position 37 of eukaryotic phenylalanine tRNA (tRNA(Phe)) that contributes to maintenance of the translational reading frame. Catalyzes the condensation of N-methylguanine with 2 carbon atoms from pyruvate to form the tricyclic 4-demethylwyosine, an intermediate in wybutosine biosynthesis

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.