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

Gene ID: 24140, updated on 27-Nov-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
  • 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. 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
  2. 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
  3. FTSJ1 regulates tRNA 2'-O-methyladenosine modification and suppresses the malignancy of NSCLC via inhibiting DRAM1 expression. He Q, et al. Cell Death Dis, 2020 May 11. PMID 32393790, Free PMC Article
  4. Genetic variations in FTSJ1 influence cognitive ability in young males in the Chinese Han population. Gong P, et al. J Neurogenet, 2008. PMID 19012053
  5. 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

See all (64) 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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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
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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)

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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