FTSJ1 (FtsJ RNA 2'-O-methyltransferase 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
24140
Gene name Gene Name - the full gene name approved by the HGNC.
FtsJ RNA 2'-O-methyltransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FTSJ1
Synonyms (NCBI Gene) Gene synonyms aliases
CDLIV, JM23, MRX44, MRX9, SPB1, TRMT7, XLID9
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp11.23
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the methyltransferase superfamily. The encoded protein localizes to the nucleolus, binds to S-adenosylmethionine, and may be involved in the processing and modification of ribosomal RNA. Mutations in this gene are associated
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs143734567 A>G Conflicting-interpretations-of-pathogenicity Coding sequence variant, non coding transcript variant, synonymous variant
rs797044864 T>A Pathogenic Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs1569474795 ->C Likely-pathogenic Coding sequence variant, non coding transcript variant, frameshift variant
rs1602048728 A>G Pathogenic Splice acceptor variant, intron variant
rs1602048836 C>T Pathogenic Coding sequence variant, non coding transcript variant, stop gained, intron variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(52)
miRTarBase ID miRNA Experiments Reference
MIRT022963 hsa-miR-124-3p Microarray 18668037
MIRT023951 hsa-miR-1-3p Proteomics 18668040
MIRT049665 hsa-miR-92a-3p CLASH 23622248
MIRT038539 hsa-miR-30c-1-3p CLASH 23622248
MIRT1005806 hsa-miR-1200 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(32)
GO ID Ontology Definition Evidence Reference
GO:0001510 Process RNA methylation IEA
GO:0002128 Process TRNA nucleoside ribose methylation IEA
GO:0002128 Process TRNA nucleoside ribose methylation IMP 26310293
GO:0002130 Process Wobble position ribose methylation IDA 32558197
GO:0002181 Process Cytoplasmic translation IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300499 13254 ENSG00000068438
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9UET6
Protein name tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase (EC 2.1.1.205) (2'-O-ribose RNA methyltransferase TRM7 homolog) (Protein ftsJ homolog 1)
Protein function 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 cytopla
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01728 FtsJ 21 → 199 FtsJ-like methyltransferase Family
Tissue specificity TISSUE SPECIFICITY: Found in fetal brain, lung, liver and kidney (PubMed:15162322). Widely expressed in adult tissue; with high expression in heart and liver, lower expression in skeletal muscle, kidney, and pancreas and also lowly expressed in brain and
Sequence 
MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTRAVDLCAAPGSWSQVLS
QKIGGQGSGHVVAVDLQAMAPLPGVVQIQGDITQLSTAKEIIQHFKGCPADLVVCDGAPD
VTGLHDVDEYMQAQLLLAALNIATHVLKPGGCFVAKIFRGRDVTLLYSQLQVFFSSVLCA
KPRSSRNSSIEAFAVCQGYDPPEGFIPDLSKPLLDHSYDPDFNQLDGPTRIIVPFVTCGD
LSSYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACTLKRKGQLAKEIRPQDCPISRV
DTFPQPLAAPQCHTLLAPEMEDNEMSCSP
Sequence length 329
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    tRNA modification in the nucleus and cytosol
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental Retardation, X-Linked Intellectual disability, X-linked 9 rs1602048836, rs1602048728 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mental retardation non-syndromic X-linked intellectual disability N/A N/A GenCC
Neurodevelopmental Disorders X-linked complex neurodevelopmental disorder N/A N/A GenCC
Show/Hide Text Mining Associations (6)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Developmental Disabilities Associate 29631977
Intellectual Disability Associate 15342698, 32558197, 36720500
Memory Disorders Associate 36720500
Mental Retardation X Linked Associate 15342698
Mental Retardation X Linked Nonsyndromic Associate 15162322, 26310293
Neoplasms Associate 36720500