FTSJ1

Chr Xp11.23

FtsJ RNA 2'-O-methyltransferase 1

Aliases:: JM23, CDLIV, SPB1, TRM7, TRMT7
MANE:: ENST00000348411.3

OMIM: 300499 ↗NCBI: 24140 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

FTSJ1 · Q9UET6

v62025-08-01

Predicted Aligned Error matrix for FTSJ1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.8/ 100

Confident

329 residues

Confidence breakdown

Very high(≥ 90)63%
Confident(70–90)22%
Low(50–70)5%
Very low(< 50)10%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

X-linked non-syndromic intellectual disability
0.71
hereditary disease
0.50
Intellectual disability
0.39
non-syndromic X-linked intellectual disability
0.37
X-linked complex neurodevelopmental disorder
0.37
autism spectrum disorder
0.12
Sotos syndrome
0.12
non-small cell lung carcinoma
0.09
neoplasm
0.09
retinitis pigmentosa
0.07

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

Protein function (UniProt)

tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase

Methylates the 2'-O-ribose of nucleotides at positions 32 and 34 of the tRNA anticodon loop of substrate tRNAs (PubMed:25404562, PubMed:26310293, PubMed:32198346, PubMed:32558197, PubMed:33771871, PubMed:36720500). Requisite for faithful cytoplasmic translation (PubMed:32393790). Requires THADA for methylation of the nucleotide at position 32 of the anticodon loop of substrate tRNAs (PubMed:25404562, PubMed:26310293). Requires WDR6 for methylation of the nucleotide at position 34 of the anticodon loop of substrate tRNAs (PubMed:32558197, PubMed:33771871). Promotes translation efficiency of the UUU codon (PubMed:32558197). Plays a role in neurogenesis (PubMed:36720500). Required for expression of genes involved in neurogenesis, mitochondrial translation and energy generation, and lipid biosynthesis (PubMed:33771871, PubMed:36720500). Requisite for RNA-mediated gene silencing (PubMed:36720500). May modify position 32 in tRNA(Arg(ACG)), tRNA(Arg(CCG)), tRNA(Arg(UCG)), tRNA(Cys(GCA)), tRNA(Cys(ACA)), tRNA(Gln(CUG)), tRNA(Gln(UUG)), tRNA(Gly(CCC)), tRNA(Leu(CAG))/tRNA(Leu(CAA)), tRNA(Leu(A/IAG)), tRNA(Leu(UAG)), tRNA(Phe(GAA)), tRNA(Pro(AGG))/tRNA(Pro(CGG))/tRNA(Pro(UGG)) and tRNA(Trp(CCA)), and position 34 in tRNA(Phe(GAA)), tRNA(Leu(CAA)), tRNA(Sec(UCA)), and tRNA(Trp(CCA)) (PubMed:26310293, PubMed:32198346, PubMed:32558197, PubMed:33771871, PubMed:36720500)