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    FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 24140, updated on 28-Oct-2024

    Summary

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    Official Symbol
    FTSJ1provided by HGNC
    Official Full Name
    FtsJ RNA 2'-O-methyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:13254
    See related
    Ensembl:ENSG00000068438 MIM:300499; AllianceGenome:HGNC:13254
    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
    JM23; MRX9; SPB1; CDLIV; MRX44; TRMT7; XLID9
    Summary
    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 with cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
    Expression
    Ubiquitous expression in thyroid (RPKM 9.6), appendix (RPKM 8.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FTSJ1 in Genome Data Viewer
    Location:
    Xp11.23
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48476021..48486364)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (47885027..47895371)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48334409..48344752)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ornithine aminotransferase pseudogene Neighboring gene solute carrier family 38 member 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29602 Neighboring gene uncharacterized LOC124905185 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:48347476-48347709 Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20814 Neighboring gene PORCN divergent transcript Neighboring gene porcupine O-acyltransferase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20815

    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. Exome sequencing findings in 27 patients with myoclonic-atonic epilepsy: Is there a major genetic factor? Routier L, et al. Clin Genet, 2019 Sep. PMID 31170314
    2. Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development. El-Hattab AW, et al. Clin Genet, 2011 Jun. PMID 20662849
    3. Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis. Honda S, et al. J Hum Genet, 2010 Sep. PMID 20613765
    4. Localization of a gene responsible for nonspecific mental retardation (MRX9) to the pericentromeric region of the X chromosome. Willems P, et al. Genomics, 1993 Nov. PMID 8288232
    5. Genetic variations in FTSJ1 influence cognitive ability in young males in the Chinese Han population. Gong P, et al. J Neurogenet, 2008. PMID 19012053

    See all (62) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance.
      Title: The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance.
    2. Intellectual disability-associated gene ftsj1 is responsible for 2'-O-methylation of specific tRNAs.
      Title: Intellectual disability-associated gene ftsj1 is responsible for 2'-O-methylation of specific tRNAs.
    3. FTSJ1 regulates tRNA 2'-O-methyladenosine modification and suppresses the malignancy of NSCLC via inhibiting DRAM1 expression.
      Title: FTSJ1 regulates tRNA 2'-O-methyladenosine modification and suppresses the malignancy of NSCLC via inhibiting DRAM1 expression.
    4. Mutations in the 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.
    5. we have provided strong evidence that human FTSJ1 is required for Cm32 and Gm34 modification of tRNAPhe.
      Title: Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1.
    6. These findings suggest that genetic variations in FtsJ homolog 1 (E. coli) possibly influence human cognitive ability.
      Title: Genetic variations in FTSJ1 influence cognitive ability in young males in the Chinese Han population.
    7. Results suggest a positive association between genetic variants and nonsyndromic X-linked mental retardation in young male subjects in the Chinese Han population.
      Title: Positive association of the FTSJ1 gene polymorphisms with nonsyndromic X-linked mental retardation in young Chinese male subjects.
    8. identified a novel FTSJ1 mutation in an X-linked mental retardation family through mutation screening of a cohort of 73 unrelated Japanese male probands with MR
      Title: A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variations in FTSJ1 influence cognitive ability in young males in the Chinese Han population.
    10. A 50kb deletion at Xp11.23 including the two genes, SLC38A5 and FTSJ1 was found in 3 brothers with moderate to severe mental retardation.
      Title: Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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

    Associated conditions

    Description Tests
    Intellectual disability, X-linked 9
    MedGen: C0796215 OMIM: 309549 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated 2023-03-22)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2023-03-22)

    ClinGen Genome Curation Page

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables S-adenosyl-L-methionine binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables tRNA (guanine) methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables tRNA 2'-O-methyltransferase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neurogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in tRNA methylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in tRNA methylation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in tRNA methylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in tRNA modification TAS
    Traceable Author Statement
    more info
    		  
    involved_in tRNA nucleoside ribose methylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in wobble position ribose methylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    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
    FtsJ-like protein 1
    cell division protein
    putative ribosomal RNA methyltransferase 1
    putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase
    rRNA (uridine-2'-O-)-methyltransferase
    tRNA methyltransferase 7 homolog
    NP_001269086.1
    NP_036412.1
    NP_803188.1
    XP_005272652.1
    XP_024308127.1
    XP_047297898.1
    XP_047297899.1
    XP_047297900.1
    XP_047297901.1
    XP_054182709.1
    XP_054182710.1
    XP_054182711.1
    XP_054182712.1
    XP_054182713.1
    XP_054182714.1

    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.

    Genomic

    1. NG_008879.1 RefSeqGene

      Range
      5039..15190
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282157.1 → NP_001269086.1  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform c

      See identical proteins and their annotated locations for NP_001269086.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) is shorter, compared to isoform a.
      Source sequence(s)
      AF063015, AJ005892, AK297486, DB049661
      Consensus CDS
      CCDS75972.1
      UniProtKB/TrEMBL
      B7Z4K4
      Related
      ENSP00000380103.4, ENST00000396894.8
      Conserved Domains (1) summary
      pfam01728
      Location:1 → 62
      FtsJ; FtsJ-like methyltransferase

    2. NM_012280.4 → NP_036412.1  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform a

      See identical proteins and their annotated locations for NP_036412.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AF063015, AJ005892
      Consensus CDS
      CCDS14294.1
      UniProtKB/Swiss-Prot
      B2RCJ0, O75670, Q9UET6
      UniProtKB/TrEMBL
      A0A024QYX5, B3KN91
      Related
      ENSP00000326948.2, ENST00000348411.3
      Conserved Domains (1) summary
      COG0293
      Location:4 → 203
      RlmE; 23S rRNA U2552 (ribose-2'-O)-methylase RlmE/FtsJ [Translation, ribosomal structure and biogenesis]

    3. NM_177439.3 → NP_803188.1  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform b

      See identical proteins and their annotated locations for NP_803188.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (b) is shorter, compared to isoform a.
      Source sequence(s)
      AF063015, AJ005892, AK024023
      Consensus CDS
      CCDS14295.1
      UniProtKB/TrEMBL
      B3KN91
      Related
      ENSP00000019019.2, ENST00000019019.6
      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_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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      48476021..48486364
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452359.2 → XP_024308127.1  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform X3

      UniProtKB/Swiss-Prot
      B2RCJ0, O75670, Q9UET6
      UniProtKB/TrEMBL
      A0A024QYX5, B3KN91
      Conserved Domains (1) summary
      COG0293
      Location:4 → 203
      RlmE; 23S rRNA U2552 (ribose-2'-O)-methylase RlmE/FtsJ [Translation, ribosomal structure and biogenesis]

    2. XM_005272595.3 → XP_005272652.1  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform X4

      See identical proteins and their annotated locations for XP_005272652.1

      UniProtKB/TrEMBL
      B3KN91
      Conserved Domains (1) summary
      COG0293
      Location:4 → 203
      RlmE; 23S rRNA U2552 (ribose-2'-O)-methylase RlmE/FtsJ [Translation, ribosomal structure and biogenesis]

    3. XM_047441943.1 → XP_047297899.1  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform X1

      UniProtKB/TrEMBL
      A0A0S2Z5C9

    4. XM_047441945.1 → XP_047297901.1  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform X2

    5. XM_047441942.1 → XP_047297898.1  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform X1

      UniProtKB/TrEMBL
      A0A0S2Z5C9

    6. XM_047441944.1 → XP_047297900.1  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform X2

    RNA

    1. XR_949015.3 RNA Sequence

    2. XR_949016.3 RNA Sequence

    3. XR_007068186.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      47885027..47895371
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326738.1 → XP_054182713.1  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform X3

      UniProtKB/Swiss-Prot
      B2RCJ0, O75670, Q9UET6
      UniProtKB/TrEMBL
      A0A024QYX5

    2. XM_054326739.1 → XP_054182714.1  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform X4

    3. XM_054326735.1 → XP_054182710.1  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform X1

      UniProtKB/TrEMBL
      A0A0S2Z5C9

    4. XM_054326737.1 → XP_054182712.1  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform X2

    5. XM_054326734.1 → XP_054182709.1  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform X1

      UniProtKB/TrEMBL
      A0A0S2Z5C9

    6. XM_054326736.1 → XP_054182711.1  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform X2

    RNA

    1. XR_008485473.1 RNA Sequence

    2. XR_008485474.1 RNA Sequence

    3. XR_008485475.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UET6.2 GenPept UniProtKB/Swiss-Prot:Q9UET6

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