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

Gene ID: 24140, updated on 4-Jan-2025

Summary

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
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Genomic context

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

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cytoplasmic translation  
involved_in cytoplasmic translation PubMed 
involved_in neurogenesis PubMed 
involved_in tRNA methylation  
involved_in tRNA methylation PubMed 
involved_in tRNA methylation PubMed 
involved_in tRNA modification  
involved_in tRNA nucleoside ribose methylation PubMed 
involved_in wobble position ribose methylation PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm  
located_in cytosol PubMed 
located_in cytosol  
located_in nucleus PubMed 

General protein information

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_001282157.1NP_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:162
    FtsJ; FtsJ-like methyltransferase
  2. NM_012280.4NP_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:4203
    RlmE; 23S rRNA U2552 (ribose-2'-O)-methylase RlmE/FtsJ [Translation, ribosomal structure and biogenesis]
  3. NM_177439.3NP_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:4203
    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_024452359.2XP_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:4203
    RlmE; 23S rRNA U2552 (ribose-2'-O)-methylase RlmE/FtsJ [Translation, ribosomal structure and biogenesis]
  2. XM_005272595.3XP_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:4203
    RlmE; 23S rRNA U2552 (ribose-2'-O)-methylase RlmE/FtsJ [Translation, ribosomal structure and biogenesis]
  3. XM_047441943.1XP_047297899.1  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform X1

    UniProtKB/TrEMBL
    A0A0S2Z5C9, B3KN91
  4. XM_047441945.1XP_047297901.1  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform X2

    UniProtKB/TrEMBL
    B3KN91
  5. XM_047441942.1XP_047297898.1  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform X1

    UniProtKB/TrEMBL
    A0A0S2Z5C9, B3KN91
  6. XM_047441944.1XP_047297900.1  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform X2

    UniProtKB/TrEMBL
    B3KN91

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_054326738.1XP_054182713.1  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform X3

    UniProtKB/Swiss-Prot
    B2RCJ0, O75670, Q9UET6
    UniProtKB/TrEMBL
    A0A024QYX5, B3KN91
  2. XM_054326739.1XP_054182714.1  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform X4

    UniProtKB/TrEMBL
    B3KN91
  3. XM_054326735.1XP_054182710.1  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform X1

    UniProtKB/TrEMBL
    A0A0S2Z5C9, B3KN91
  4. XM_054326737.1XP_054182712.1  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform X2

    UniProtKB/TrEMBL
    B3KN91
  5. XM_054326734.1XP_054182709.1  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform X1

    UniProtKB/TrEMBL
    A0A0S2Z5C9, B3KN91
  6. XM_054326736.1XP_054182711.1  tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform X2

    UniProtKB/TrEMBL
    B3KN91

RNA

  1. XR_008485473.1 RNA Sequence

  2. XR_008485474.1 RNA Sequence

  3. XR_008485475.1 RNA Sequence

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