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

Gene ID: 24140, updated on 1-Jun-2020

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
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
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

Genomic context

See FTSJ1 in Genome Data Viewer
Location:
Xp11.23
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (48476021..48486364)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48334454..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 uncharacterized LOC101927635 Neighboring gene porcupine O-acyltransferase

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-07-12)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-12)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tRNA (cytosine-2'-O-)-methyltransferase activity EXP
Inferred from Experiment
more info
PubMed 
tRNA (guanosine-2'-O-)-methyltransferase activity EXP
Inferred from Experiment
more info
PubMed 
tRNA methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
RNA methylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic translation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tRNA methylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tRNA modification TAS
Traceable Author Statement
more info
 
tRNA nucleoside ribose methylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
putative 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
rRNA (uridine-2'-O-)-methyltransferase
tRNA methyltransferase 7 homolog
NP_001269086.1
NP_036412.1
NP_803188.1
XP_005272652.1
XP_024308127.1

NCBI Reference Sequences (RefSeq)

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  putative 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/Swiss-Prot
    Q9UET6
    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  putative 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
    Q9UET6
    UniProtKB/TrEMBL
    A0A024QYX5
    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  putative 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/Swiss-Prot
    Q9UET6
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005272595.2XP_005272652.1  putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform X2

    See identical proteins and their annotated locations for XP_005272652.1

    UniProtKB/Swiss-Prot
    Q9UET6
    Conserved Domains (1) summary
    COG0293
    Location:4203
    RlmE; 23S rRNA U2552 (ribose-2'-O)-methylase RlmE/FtsJ [Translation, ribosomal structure and biogenesis]
  2. XM_024452359.1XP_024308127.1  putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform X1

    Conserved Domains (1) summary
    COG0293
    Location:4203
    RlmE; 23S rRNA U2552 (ribose-2'-O)-methylase RlmE/FtsJ [Translation, ribosomal structure and biogenesis]

RNA

  1. XR_949015.2 RNA Sequence

  2. XR_949016.2 RNA Sequence

  3. XR_002958767.1 RNA Sequence

  4. XR_002958769.1 RNA Sequence

  5. XR_002958768.1 RNA Sequence

  6. XR_002958770.1 RNA Sequence

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