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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FTSJ1
FtsJ RNA 2'-O-methyltransferase 1
Chromosome X Β· Xp11.23
NCBI Gene: 24140Ensembl: ENSG00000068438.15HGNC: HGNC:13254UniProt: A0A024QYX5
67PubMed Papers
21Diseases
0Drugs
15Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingtRNA nucleoside ribose methylationwobble position ribose methylationcytoplasmic translationX-linked non-syndromic intellectual disabilitygenetic disorderIntellectual disabilitynon-syndromic X-linked intellectual disability
✦AI Summary

FTSJ1 is an X-linked RNA 2'-O-methyltransferase that catalyzes methylation of the 2'-O-ribose at positions 32 and 34 of the tRNA anticodon loop 12. Position 32 methylation requires the cofactor THADA, while position 34 methylation requires WDR6 12. FTSJ1 modifies at least 11 tRNA species including tRNAPhe, tRNALeu, and selenocysteine tRNA, with these modifications being essential for faithful cytoplasmic translation 23. Position 34 methylation specifically promotes efficient UUU codon translation 2. In melanoma, FTSJ1-mediated selenocysteine tRNA methylation enables efficient selenoprotein synthesis, protecting against oxidative stress and reducing metastatic potential 3. FTSJ1 is required for neurogenesis and normal neuron morphology; its loss causes long, thin spine neurites and memory deficits in both Drosophila and mammals 4. FTSJ1 mutations cause X-linked intellectual disability through impaired translation of genes supporting synaptic organization and nervous system function 5. Loss of FTSJ1 also promotes glycolysis in lung cancer by enhancing PGK1 translation, suggesting potential therapeutic targeting in non-small cell lung cancer 6. FTSJ1 dysfunction affects multiple organ systems beyond the brain, including bone metabolism, immune function, and pain sensation 7.

Sources cited
1
FTSJ1 methylates positions 32 and 34 of tRNA anticodon loop; THADA required for position 32 methylation
PMID: 25404562
2
FTSJ1-WDR6 complex mediates Gm34 methylation at tRNA position 34; enhances UUU codon translation efficiency; hierarchical modification interdependence
PMID: 32558197
3
FTSJ1 methylates selenocysteine tRNA Um34; required for efficient selenoprotein synthesis and oxidative stress resistance in melanoma
PMID: 39438623
4
FTSJ1 required for neurogenesis and neuron morphology; loss causes learning deficits; modifies multiple tRNA species
PMID: 36720500
5
FTSJ1 modifies 11 tRNA species; loss reduces tRNAPhe levels and translation efficiency of synaptic proteins; causes immature synaptic morphology and memory deficits
PMID: 33771871
6
FTSJ1 downregulation in lung cancer promotes glycolysis through enhanced PGK1 translation
PMID: 39695074
7
FTSJ1 deficiency affects multiple organ systems including bone metabolism, immune function, and pain sensation beyond brain
PMID: 30557699
8
Cryo-EM structure reveals FTSJ1-THADA complex formation and tRNA substrate recognition for position 32 methylation
PMID: 40483304
Disease Associationsβ“˜21
X-linked non-syndromic intellectual disabilityOpen Targets
0.72Strong
genetic disorderOpen Targets
0.50Moderate
Intellectual disabilityOpen Targets
0.39Weak
non-syndromic X-linked intellectual disabilityOpen Targets
0.37Weak
X-linked complex neurodevelopmental disorderOpen Targets
0.37Weak
autism spectrum disorderOpen Targets
0.12Weak
Sotos syndromeOpen Targets
0.12Weak
non-small cell lung carcinomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.07Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.06Suggestive
X-linked retinal dysplasiaOpen Targets
0.06Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.04Suggestive
Stargardt diseaseOpen Targets
0.04Suggestive
X-linked retinoschisisOpen Targets
0.04Suggestive
exudative vitreoretinopathy 2, X-linkedOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
MORM syndromeOpen Targets
0.04Suggestive
intellectual developmental disorder and retinitis pigmentosa; IDDRPOpen Targets
0.03Suggestive
exudative vitreoretinopathyOpen Targets
0.03Suggestive
Intellectual developmental disorder, X-linked 9UniProt
Pathogenic Variants15
NM_012280.4(FTSJ1):c.655G>A (p.Asp219Asn)Pathogenic
Intellectual disability, X-linked 9|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 219
NM_012280.4(FTSJ1):c.587G>A (p.Cys196Tyr)Likely pathogenic
Intellectual disability, X-linked 9
β˜…β˜†β˜†β˜†2025β†’ Residue 196
NM_012280.4(FTSJ1):c.759+1G>ALikely pathogenic
Intellectual disability, X-linked 9
β˜…β˜†β˜†β˜†2024
NM_012280.4(FTSJ1):c.133del (p.Ala45fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2022β†’ Residue 45
NM_012280.4(FTSJ1):c.362-2A>TPathogenic
Intellectual disability
β˜…β˜†β˜†β˜†2020
NM_012280.4(FTSJ1):c.352del (p.Ala118fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2020β†’ Residue 118
NM_012280.4(FTSJ1):c.61_64del (p.Trp21fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 21
NM_012280.4(FTSJ1):c.877dup (p.Gln293fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 293
NM_012280.4(FTSJ1):c.161G>C (p.Ser54Thr)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2015β†’ Residue 54
NM_012280.4(FTSJ1):c.34T>A (p.Tyr12Asn)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2013β†’ Residue 12
NM_012280.4(FTSJ1):c.-88+644_-88+645delLikely pathogenic
Intellectual disability, X-linked 9
β˜†β˜†β˜†β˜†2023
NM_012280.4(FTSJ1):c.256del (p.Val86fs)Pathogenic
Intellectual disability, X-linked 9
β˜†β˜†β˜†β˜†2019β†’ Residue 86
NM_012280.4(FTSJ1):c.192-2A>GPathogenic
Intellectual disability, X-linked 9
β˜†β˜†β˜†β˜†2004
NM_012280.4(FTSJ1):c.121+1delPathogenic
Intellectual disability, X-linked 9
β˜†β˜†β˜†β˜†2004
NM_012280.4(FTSJ1):c.196C>T (p.Gln66Ter)Pathogenic
Intellectual disability, X-linked 9
β˜†β˜†β˜†β˜†2004β†’ Residue 66
View on ClinVar β†—
Related Genes
TRMT61AProtein interaction100%TRMT61BProtein interaction100%NIFKProtein interaction99%PES1Protein interaction99%RSL24D1Protein interaction98%THADAProtein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
91%
Ovary
89%
Brain
78%
Liver
63%
Heart
61%
Gene Interaction Network
Click a node to explore
FTSJ1TRMT61ATRMT61BNIFKPES1RSL24D1THADA
PROTEIN STRUCTURE
Preparing viewer…
PDB8Y2O Β· 2.66 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.27Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.11 [0.05–0.27]
RankingsWhere FTSJ1 stands among ~20K protein-coding genes
  • #6,982of 20,598
    Most Researched67
  • #2,458of 5,498
    Most Pathogenic Variants15
  • #930of 17,882
    Most Constrained (LOEUF)0.27 Β· top 10%
Genes detectedFTSJ1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Selenocysteine tRNA methylation promotes oxidative stress resistance in melanoma metastasis.
PMID: 39438623
Nat Cancer Β· 2024
1.00
2
The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance.
PMID: 36720500
Life Sci Alliance Β· 2023
0.90
3
The role and machine learning analysis of mitochondrial autophagy-related gene expression in lung adenocarcinoma.
PMID: 40313958
Front Immunol Β· 2025
0.80
4
Downregulation of tRNA methyltransferase FTSJ1 by PM2.5 promotes glycolysis and malignancy of NSCLC via facilitating PGK1 expression and translation.
PMID: 39695074
Cell Death Dis Β· 2024
0.70
5
Structural insights into tRNA recognition of the human FTSJ1-THADA complex.
PMID: 40483304
Commun Biol Β· 2025
0.60