Identity
HGNC
LOCATION
Xp11.23
LOCUSID
ALIAS
CDLIV,JM23,MRX44,MRX9,SPB1,TRMT7
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 24140
MIM: 300499
HGNC: 13254
Ensembl: ENSG00000068438
Variants:
dbSNP: 24140
ClinVar: 24140
TCGA: ENSG00000068438
COSMIC: FTSJ1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000068438 | ENST00000019019 | Q9UET6 |
| ENSG00000068438 | ENST00000348411 | Q9UET6 |
| ENSG00000068438 | ENST00000348411 | A0A024QYX5 |
| ENSG00000068438 | ENST00000396894 | B7Z4K4 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Gene Expression | REACTOME | R-HSA-74160 |
| tRNA processing | REACTOME | R-HSA-72306 |
| tRNA modification in the nucleus and cytosol | REACTOME | R-HSA-6782315 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36720500 | 2023 | The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance. | 2 |
| 36720500 | 2023 | The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance. | 2 |
| 32393790 | 2020 | FTSJ1 regulates tRNA 2'-O-methyladenosine modification and suppresses the malignancy of NSCLC via inhibiting DRAM1 expression. | 20 |
| 32558197 | 2020 | Intellectual disability-associated gene ftsj1 is responsible for 2'-O-methylation of specific tRNAs. | 25 |
| 32393790 | 2020 | FTSJ1 regulates tRNA 2'-O-methyladenosine modification and suppresses the malignancy of NSCLC via inhibiting DRAM1 expression. | 20 |
| 32558197 | 2020 | Intellectual disability-associated gene ftsj1 is responsible for 2'-O-methylation of specific tRNAs. | 25 |
| 30557699 | 2019 | A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene. | 13 |
| 30557699 | 2019 | A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene. | 13 |
| 26310293 | 2015 | Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1. | 79 |
| 26310293 | 2015 | Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1. | 79 |
| 18081026 | 2008 | A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family. | 26 |
| 18401546 | 2008 | Positive association of the FTSJ1 gene polymorphisms with nonsyndromic X-linked mental retardation in young Chinese male subjects. | 11 |
| 18401546 | 2008 | Positive association of the FTSJ1 gene polymorphisms with nonsyndromic X-linked mental retardation in young Chinese male subjects. | 11 |
| 19012053 | 2008 | Genetic variations in FTSJ1 influence cognitive ability in young males in the Chinese Han population. | 10 |
| 19012053 | 2008 | Genetic variations in FTSJ1 influence cognitive ability in young males in the Chinese Han population. | 10 |
Citation
Dessen P
FTSJ1 (FtsJ RNA 2-O-methyltransferase 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/63623/ftsj1-(ftsj-rna-2-o-methyltransferase-1)
