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Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 [ Mus musculus (house mouse) ]

Gene ID: 54632, updated on 2-Nov-2024

Summary

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Official Symbol
Ftsj1provided by MGI
Official Full Name
FtsJ RNA 2'-O-methyltransferase 1provided by MGI
Primary source
MGI:MGI:1859648
See related
Ensembl:ENSMUSG00000031171 AllianceGenome:MGI:1859648
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Ftsj; Ftsjl; Sfc12
Summary
Predicted to enable S-adenosyl-L-methionine binding activity and tRNA methyltransferase activity. Predicted to be involved in cytoplasmic translation; neurogenesis; and wobble position ribose methylation. Predicted to be located in cytosol and nucleus. Predicted to be active in cytoplasm. Is expressed in ovary; oviduct; and uterus. Used to study non-syndromic X-linked intellectual disability 9. Human ortholog(s) of this gene implicated in non-syndromic X-linked intellectual disability 9. Orthologous to human FTSJ1 (FtsJ RNA 2'-O-methyltransferase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in ovary adult (RPKM 9.1), liver E14.5 (RPKM 8.2) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Ftsj1 in Genome Data Viewer
Location:
X A1.1; X 3.73 cM
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (8104907..8118609, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (8238668..8252406, complement)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene EBP cholestenol delta-isomerase Neighboring gene porcupine O-acyltransferase Neighboring gene STARR-seq mESC enhancer starr_46691 Neighboring gene predicted gene, 33135 Neighboring gene STARR-seq mESC enhancer starr_46693 Neighboring gene STARR-seq mESC enhancer starr_46694 Neighboring gene predicted gene, 54078 Neighboring gene solute carrier family 38, member 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Loss of Ftsj1 perturbs codon-specific translation efficiency in the brain and is associated with X-linked intellectual disability. Nagayoshi Y, et al. Sci Adv, 2021 Mar. PMID 33771871, Free PMC Article
  2. A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene. Jensen LR, et al. Biochim Biophys Acta Mol Basis Dis, 2019 Sep 1. PMID 30557699
  3. Transgenic rescue of the tattered phenotype by using a BAC encoding Ebp. Means GD, et al. Mamm Genome, 2001 Apr. PMID 11309666
  4. A transcript map of a 2-Mb BAC contig in the proximal portion of the mouse X chromosome and regional mapping of the scurfy mutation. Means GD, et al. Genomics, 2000 May 1. PMID 10857745
  5. Phenotypic annotation of the mouse X chromosome. Cox BJ, et al. Genome Res, 2010 Aug. PMID 20548051, Free PMC Article

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Loss sof Ftsj1 gene is associated with intellectual disability.
    Title: A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Gene trapped (1) 
  • Targeted (3)  1 citation

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables S-adenosyl-L-methionine binding ISO
Inferred from Sequence Orthology
more info
  
enables S-adenosyl-L-methionine binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase activity ISO
Inferred from Sequence Orthology
more info
  
enables tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables tRNA (guanine) methyltransferase activity ISO
Inferred from Sequence Orthology
more info
  
enables tRNA (guanine) methyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables tRNA 2'-O-methyltransferase activity ISO
Inferred from Sequence Orthology
more info
  
enables tRNA methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in cytoplasmic translation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cytoplasmic translation ISO
Inferred from Sequence Orthology
more info
  
involved_in cytoplasmic translation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in neurogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in neurogenesis ISO
Inferred from Sequence Orthology
more info
  
involved_in tRNA methylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in tRNA methylation ISO
Inferred from Sequence Orthology
more info
  
involved_in tRNA nucleoside ribose methylation ISO
Inferred from Sequence Orthology
more info
  
involved_in wobble position ribose methylation ISO
Inferred from Sequence Orthology
more info
  
involved_in wobble position ribose methylation ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase
Names
2'-O-ribose RNA methyltransferase TRM7 homolog
FtsJ RNA methyltransferase homolog 1
protein ftsJ homolog 1
putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase
NP_001277359.1
NP_598752.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001290430.2 → NP_001277359.1  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform 2

    See identical proteins and their annotated locations for NP_001277359.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AL805902
    Consensus CDS
    CCDS72340.1
    UniProtKB/TrEMBL
    Q8CBC7, Q8JZY1
    Related
    ENSMUSP00000111258.2, ENSMUST00000115595.8
    Conserved Domains (1) summary
    COG0293
    Location:4 → 203
    RlmE; 23S rRNA U2552 (ribose-2'-O)-methylase RlmE/FtsJ [Translation, ribosomal structure and biogenesis]

  2. NM_133991.3 → NP_598752.2  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform 1

    See identical proteins and their annotated locations for NP_598752.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL805902
    Consensus CDS
    CCDS29994.1
    UniProtKB/Swiss-Prot
    A2ALH2, Q8CBC7, Q8JZY1, Q91XA6
    Related
    ENSMUSP00000033513.4, ENSMUST00000033513.10
    Conserved Domains (1) summary
    COG0293
    Location:4 → 203
    RlmE; 23S rRNA U2552 (ribose-2'-O)-methylase RlmE/FtsJ [Translation, ribosomal structure and biogenesis]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    8104907..8118609 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8CBC7.1 GenPept UniProtKB/Swiss-Prot:Q8CBC7

Gene LinkOut

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