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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TYW1
tRNA-yW synthesizing protein 1 homolog
Chromosome 7 · 7q11.21
NCBI Gene: 55253Ensembl: ENSG00000198874.15HGNC: HGNC:25598UniProt: Q9NV66
38PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
wybutosine biosynthetic processFMN bindingiron-sulfur cluster binding4 iron, 4 sulfur cluster bindingAlzheimer diseasetrauma complicationobesitymalunion fracture
✦AI Summary

TYW1 is a radical S-adenosylmethionine (SAM) enzyme that catalyzes wybutosine biosynthesis, a critical tRNA hypermodification pathway 1. Specifically, TYW1 catalyzes the second step of wybutosine synthesis by cyclizing N(1)-methylguanosine to form the tricyclic ring structure 2, utilizing two [4Fe-4S] clusters to generate radical intermediates 2. Wybutosine is a tricyclic hypermodified guanosine located at position 37 of eukaryotic phenylalanine tRNA, immediately 3'-adjacent to the anticodon, where it stabilizes codon-anticodon base-pairing during ribosomal decoding 32. Clinically, TYW1 loss-of-function mutations cause cerebral palsy with severe intellectual disability and primary microcephaly 4. Mechanistically, TYW1 deficiency blocks wybutosine (OHyW) formation in tRNAphe, reducing translation efficiency of UUU codons and impairing neuronal proliferation and migration 45. TYW1 loss specifically perturbs translation of proteins involved in cell cycling and activates HERVK retrotransposons through reduced SMARCAD1 expression, further impairing neural differentiation 45. Additionally, TYW1 variants have been associated with Behçet's disease susceptibility in genome-wide association studies 6 and identified as a potential driver gene in multiple myeloma 7.

Sources cited
1
TYW1 is one of 8 human radical SAM enzymes, specifically involved in wybutosine biosynthesis
PMID: 27145839
2
TYW1 catalyzes tricyclic ring formation by cyclizing N(1)-methylguanosine using radical SAM mechanism with two [4Fe-4S] clusters
PMID: 17727881
3
TYW1 is essential for wybutosine synthesis and stabilizes codon-anticodon interactions at position 37 of phenylalanine tRNA
PMID: 16642040
4
TYW1 defects cause cerebral palsy with intellectual disability and microcephaly by impairing neuronal proliferation and perturbing cell cycle protein translation
PMID: 34077496
5
TYW1 loss blocks OHyW formation, reduces UUU codon translation efficiency, upregulates HERVK, and impairs neural differentiation through SMARCAD1 reduction
PMID: 38706838
6
TYW1-AUTS2 locus is associated with Behçet's disease susceptibility in genome-wide association studies
PMID: 37977914
7
TYW1 identified as a potential driver gene in multiple myeloma through whole-exome sequencing analysis
PMID: 39769182
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.31Weak
trauma complicationOpen Targets
0.29Weak
obesityOpen Targets
0.26Weak
malunion fractureOpen Targets
0.25Weak
cardiomyopathyOpen Targets
0.18Weak
poisoningOpen Targets
0.17Weak
smoking initiationOpen Targets
0.14Weak
breast benign neoplasmOpen Targets
0.05Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.04Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.04Suggestive
hemoglobin E diseaseOpen Targets
0.03Suggestive
dominant beta-thalassemiaOpen Targets
0.03Suggestive
cardiac arrestOpen Targets
0.03Suggestive
congenital dyserythropoietic anemia type 4Open Targets
0.03Suggestive
Congenital dyserythropoietic anemia type IVOpen Targets
0.03Suggestive
sign or symptomOpen Targets
0.03Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.03Suggestive
DNA methylationOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TYW1BShared pathway100%LCMT2Protein interaction88%TYW2Protein interaction88%TRMT5Protein interaction88%TYW5Protein interaction79%PWP1Protein interaction72%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
75%
Brain
70%
Liver
70%
Heart
70%
Lung
59%
Gene Interaction Network
Click a node to explore
TYW1TYW1BLCMT2TYW2TRMT5TYW5PWP1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NV66
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.62LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.48 [0.38–0.62]
RankingsWhere TYW1 stands among ~20K protein-coding genes
  • #10,567of 20,598
    Most Researched38
  • #4,325of 17,882
    Most Constrained (LOEUF)0.62 · top quartile
Genes detectedTYW1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy.
PMID: 34077496
Brain · 2022
1.00
2
Whole-Exome Sequencing, Mutational Signature Analysis, and Outcome in Multiple Myeloma-A Pilot Study.
PMID: 39769182
Int J Mol Sci · 2024
0.90
3
Wybutosine hypomodification of tRNAphe activates HERVK and impairs neuronal differentiation.
PMID: 38706838
iScience · 2024
0.80
4
Crystal structure of the radical SAM enzyme catalyzing tricyclic modified base formation in tRNA.
PMID: 17727881
J Mol Biol · 2007
0.70
5
Genome-wide association analysis reveals the associations of NPHP4, TYW1-AUTS2 and SEMA6D for Behçet's disease and HLA-B*46:01 for its intestinal involvement.
PMID: 37977914
Dig Liver Dis · 2024
0.60