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

    Gene ID: 54632, updated on 27-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
    • 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 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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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