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    FTSJ3 FtsJ RNA 2'-O-methyltransferase 3 [ Homo sapiens (human) ]

    Gene ID: 117246, updated on 28-Oct-2024

    Summary

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    Official Symbol
    FTSJ3provided by HGNC
    Official Full Name
    FtsJ RNA 2'-O-methyltransferase 3provided by HGNC
    Primary source
    HGNC:HGNC:17136
    See related
    Ensembl:ENSG00000108592 MIM:618411; AllianceGenome:HGNC:17136
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPB1; EPCS3
    Summary
    Although the function of this gene is not known, the existence of this gene is supported by mRNA and EST data. A possible function of the encoded protein can be inferred from amino acid sequence similarity to the E.coli FtsJ protein and to a mouse protein possibly involved in embryogenesis. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 14.7), lymph node (RPKM 12.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FTSJ3 in Genome Data Viewer
    Location:
    17q23.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (63819433..63827663, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (64690280..64698513, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (61896793..61905023, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 47 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:61850832-61851416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8831 Neighboring gene DEAD-box helicase 42 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:61897185-61898384 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:61904136-61905335 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12563 Neighboring gene proteasome 26S subunit, ATPase 5 Neighboring gene Sharpr-MPRA regulatory region 8123 Neighboring gene SWI/SNF related BAF chromatin remodeling complex subunit D2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12564 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8832 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8833 Neighboring gene CRISPRi-validated cis-regulatory element chr17.4273 Neighboring gene Sharpr-MPRA regulatory region 5702 Neighboring gene testicular cell adhesion molecule 1, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Pan-cancer analysis of RNA methyltransferases identifies FTSJ3 as a potential regulator of breast cancer progression. Manning M, et al. RNA Biol, 2020 Apr. PMID 31957540, Free PMC Article
    2. RNA Methyltransferase FTSJ3 Regulates the Type I Interferon Pathway to Promote Hepatocellular Carcinoma Immune Evasion. Zhuang Q, et al. Cancer Res, 2024 Feb 1. PMID 37963197
    3. Proteomic characterization of the human FTSJ3 preribosomal complexes. Simabuco FM, et al. J Proteome Res, 2012 Jun 1. PMID 22540864
    4. FTSJ3 is an RNA 2'-O-methyltransferase recruited by HIV to avoid innate immune sensing. Ringeard M, et al. Nature, 2019 Jan. PMID 30626973
    5. The human nucleolar protein FTSJ3 associates with NIP7 and functions in pre-rRNA processing. Morello LG, et al. PLoS One, 2011. PMID 22195017, Free PMC Article

    See all (155) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RNA Methyltransferase FTSJ3 Regulates the Type I Interferon Pathway to Promote Hepatocellular Carcinoma Immune Evasion.
      Title: RNA Methyltransferase FTSJ3 Regulates the Type I Interferon Pathway to Promote Hepatocellular Carcinoma Immune Evasion.
    2. Pan-cancer analysis of RNA methyltransferases identifies FTSJ3 as a potential regulator of breast cancer progression.
      Title: Pan-cancer analysis of RNA methyltransferases identifies FTSJ3 as a potential regulator of breast cancer progression.
    3. identification of an unexpected mechanism used by HIV-1 to evade innate immune recognition: the recruitment of the TRBP-FTSJ3 complex to viral RNA and its 2'-O-methylation
      Title: FTSJ3 is an RNA 2'-O-methyltransferase recruited by HIV to avoid innate immune sensing.
    4. Components of the FTSJ3 interactome identified by coimmunoprecipitation.
      Title: Proteomic characterization of the human FTSJ3 preribosomal complexes.
    5. The results presented in this work indicate a close functional interaction between NIP7 and FTSJ3 during pre-rRNA processing and show that FTSJ3 participates in ribosome synthesis in human cells.
      Title: The human nucleolar protein FTSJ3 associates with NIP7 and functions in pre-rRNA processing.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20062

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA 2'-O-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables rRNA (guanine) methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables rRNA (uridine-2'-O-)-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in RNA methylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in rRNA methylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    part_of preribosome, large subunit precursor IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of preribosome, small subunit precursor IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    pre-rRNA 2'-O-ribose RNA methyltransferase FTSJ3
    Names
    2'-O-ribose RNA methyltransferase SPB1 homolog
    FtsJ RNA methyltransferase homolog 3
    FtsJ homolog 3
    SPB1 RNA methyltransferase homolog
    pre-rRNA processing protein FTSJ3
    protein ftsJ homolog 3
    putative rRNA methyltransferase 3
    rRNA (uridine-2'-O-)-methyltransferase 3
    NP_060117.3
    XP_024306330.1
    XP_054170950.1

    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_017647.4 → NP_060117.3  pre-rRNA 2'-O-ribose RNA methyltransferase FTSJ3

      See identical proteins and their annotated locations for NP_060117.3

      Status: REVIEWED

      Source sequence(s)
      AF147378, AK095861, AK315010, BM914774
      Consensus CDS
      CCDS11644.1
      UniProtKB/Swiss-Prot
      B2RCA5, D3DU22, Q8IY81, Q8N3A3, Q8WXX1, Q9BWM4, Q9NXT6
      UniProtKB/TrEMBL
      B4DKU3
      Related
      ENSP00000396673.2, ENST00000427159.7
      Conserved Domains (3) summary
      COG0293
      Location:8 → 203
      RlmE; 23S rRNA U2552 (ribose-2'-O)-methylase RlmE/FtsJ [Translation, ribosomal structure and biogenesis]
      pfam07780
      Location:644 → 834
      Spb1_C; Spb1 C-terminal domain
      pfam11861
      Location:232 → 400
      DUF3381; Domain of unknown function (DUF3381)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      63819433..63827663 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024450562.2 → XP_024306330.1  pre-rRNA 2'-O-ribose RNA methyltransferase FTSJ3 isoform X1

      Conserved Domains (2) summary
      COG0293
      Location:8 → 203
      RlmE; 23S rRNA U2552 (ribose-2'-O)-methylase RlmE/FtsJ [Translation, ribosomal structure and biogenesis]
      pfam11861
      Location:232 → 329
      DUF3381; Domain of unknown function (DUF3381)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      64690280..64698513 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314975.1 → XP_054170950.1  pre-rRNA 2'-O-ribose RNA methyltransferase FTSJ3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IY81.2 GenPept UniProtKB/Swiss-Prot:Q8IY81

    Gene LinkOut

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

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