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Aliases for FTSJ1 Gene

Aliases for FTSJ1 Gene

  • FtsJ RNA Methyltransferase Homolog 1 (E. Coli) 2 3
  • 2-O-Ribose RNA Methyltransferase TRM7 Homolog 3 4
  • MRX44 3 6
  • SPB1 3 6
  • JM23 3 6
  • MRX9 3 6
  • Putative TRNA (Cytidine(32)/Guanosine(34)-2-O)-Methyltransferase 3
  • TRNA Methyltransferase 7 Homolog (S. Cerevisiae) 2
  • Putative Ribosomal RNA Methyltransferase 1 3
  • RRNA (Uridine-2-O-)-Methyltransferase 3
  • TRNA Methyltransferase 7 Homolog 3
  • Mental Retardation, X-Linked 44 2
  • Mental Retardation, X-Linked 9 2
  • Protein FtsJ Homolog 1 4
  • Cell Division Protein 3
  • EC 2.1.1.205 4
  • CDLIV 3
  • TRMT7 3

External Ids for FTSJ1 Gene

Previous Symbols for FTSJ1 Gene

  • MRX9
  • MRX44

Summaries for FTSJ1 Gene

Entrez Gene Summary for FTSJ1 Gene

  • 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 mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

GeneCards Summary for FTSJ1 Gene

FTSJ1 (FtsJ RNA Methyltransferase Homolog 1 (E. Coli)) is a Protein Coding gene. Diseases associated with FTSJ1 include non-syndromic x-linked intellectual disability and mental retardation. GO annotations related to this gene include methyltransferase activity.

UniProtKB/Swiss-Prot for FTSJ1 Gene

  • Methylates the 2-O-ribose of nucleotides at positions 32 and 34 of the tRNA anticodon loop of substrate tRNAs.

Gene Wiki entry for FTSJ1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FTSJ1 Gene

Genomics for FTSJ1 Gene

Genomic Location for FTSJ1 Gene

Start:
48,476,021 bp from pter
End:
48,486,364 bp from pter
Size:
10,344 bases
Orientation:
Plus strand

Genomic View for FTSJ1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FTSJ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FTSJ1 Gene

Regulatory Elements for FTSJ1 Gene

Proteins for FTSJ1 Gene

  • Protein details for FTSJ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UET6-TRM7_HUMAN
    Recommended name:
    Putative tRNA (cytidine(32)/guanosine(34)-2-O)-methyltransferase
    Protein Accession:
    Q9UET6
    Secondary Accessions:
    • B2RCJ0
    • O75670

    Protein attributes for FTSJ1 Gene

    Size:
    329 amino acids
    Molecular mass:
    36079 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FTSJ1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FTSJ1 Gene

Proteomics data for FTSJ1 Gene at MOPED

Post-translational modifications for FTSJ1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys34

Other Protein References for FTSJ1 Gene

No data available for DME Specific Peptides for FTSJ1 Gene

Domains for FTSJ1 Gene

Suggested Antigen Peptide Sequences for FTSJ1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UET6

UniProtKB/Swiss-Prot:

TRM7_HUMAN
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA methyltransferase RlmE family. TRM7 subfamily.:
    • Q9UET6
genes like me logo Genes that share domains with FTSJ1: view

No data available for Gene Families for FTSJ1 Gene

Function for FTSJ1 Gene

Molecular function for FTSJ1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: S-adenosyl-L-methionine + cytidine(32)/guanosine(34) in tRNA = S-adenosyl-L-homocysteine + 2-O-methylcytidine(32)/2-O-methylguanosine(34) in tRNA.
UniProtKB/Swiss-Prot Function: Methylates the 2-O-ribose of nucleotides at positions 32 and 34 of the tRNA anticodon loop of substrate tRNAs.

Enzyme Numbers (IUBMB) for FTSJ1 Gene

Gene Ontology (GO) - Molecular Function for FTSJ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008168 methyltransferase activity --
GO:0008175 tRNA methyltransferase activity IEA --
genes like me logo Genes that share ontologies with FTSJ1: view
genes like me logo Genes that share phenotypes with FTSJ1: view

miRNA for FTSJ1 Gene

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for FTSJ1 Gene

Localization for FTSJ1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FTSJ1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FTSJ1 Gene COMPARTMENTS Subcellular localization image for FTSJ1 gene
Compartment Confidence
cytosol 2
nucleus 2
cytoskeleton 1
extracellular 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for FTSJ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with FTSJ1: view

Pathways for FTSJ1 Gene

SuperPathways for FTSJ1 Gene

No Data Available

Interacting Proteins for FTSJ1 Gene

Gene Ontology (GO) - Biological Process for FTSJ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001510 RNA methylation --
GO:0002128 tRNA nucleoside ribose methylation IEA --
GO:0002181 cytoplasmic translation IEA --
GO:0032259 methylation --
genes like me logo Genes that share ontologies with FTSJ1: view

No data available for Pathways by source for FTSJ1 Gene

Compounds for FTSJ1 Gene

(1) HMDB Compounds for FTSJ1 Gene

Compound Synonyms Cas Number PubMed IDs
S-Adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
29908-03-0
genes like me logo Genes that share compounds with FTSJ1: view

Transcripts for FTSJ1 Gene

Unigene Clusters for FTSJ1 Gene

FtsJ RNA methyltransferase homolog 1 (E. coli):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FTSJ1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b ^
SP1: - - - - -
SP2: - - - - - -
SP3: - - -
SP4: - - - -
SP5: - - - -
SP6: - -
SP7: - -
SP8: - -
SP9: -
SP10: - - - - - - - - - - - - -
SP11: - -
SP12: - - - - - - - - - -
SP13: -
SP14:

ExUns: 12 ^ 13 ^ 14 ^ 15a · 15b · 15c
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: - -
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for FTSJ1 Gene

GeneLoc Exon Structure for
FTSJ1
ECgene alternative splicing isoforms for
FTSJ1

Expression for FTSJ1 Gene

mRNA expression in normal human tissues for FTSJ1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FTSJ1 Gene

SOURCE GeneReport for Unigene cluster for FTSJ1 Gene Hs.23170

mRNA Expression by UniProt/SwissProt for FTSJ1 Gene

Q9UET6-TRM7_HUMAN
Tissue specificity: Found in fetal brain, lung, liver and kidney. In the adult brain, expressed in amygdala, caudate nucleus, corpus callosum, hippocampus and thalamus.
genes like me logo Genes that share expressions with FTSJ1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for FTSJ1 Gene

Orthologs for FTSJ1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FTSJ1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia -- 36
  • 85 (a)
OneToMany
-- 36
  • 84 (a)
OneToMany
FTSJ1 35
  • 91.07 (n)
  • 90.85 (a)
FTSJ1 36
  • 90 (a)
OneToMany
dog
(Canis familiaris)
Mammalia FTSJ1 35
  • 91.79 (n)
  • 93.92 (a)
FTSJ1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ftsj1 35
  • 86.93 (n)
  • 87.96 (a)
Ftsj1 16
Ftsj1 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FTSJ1 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FTSJ1 36
  • 49 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ftsj1 35
  • 85.95 (n)
  • 86.77 (a)
lizard
(Anolis carolinensis)
Reptilia FTSJ1 36
  • 67 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia ftsj1-A-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.19492 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3199 35
zebrafish
(Danio rerio)
Actinopterygii ftsj1 35
  • 67.69 (n)
  • 77.05 (a)
ftsj1 36
  • 70 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003974 35
  • 63.61 (n)
  • 64.89 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5220 35
  • 61.04 (n)
  • 62.03 (a)
CG5220 36
  • 50 (a)
OneToMany
CG7009 36
  • 46 (a)
OneToMany
CG5220 37
  • 57 (a)
CG7009 37
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea R74.7 35
  • 56.03 (n)
  • 60.22 (a)
R74.7 36
  • 50 (a)
OneToOne
R74.7 37
  • 55 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR036W 35
  • 55.87 (n)
  • 55.4 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TRM7 35
  • 50.88 (n)
  • 53.68 (a)
TRM7 36
  • 47 (a)
OneToOne
TRM7 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F18414g 35
  • 49.3 (n)
  • 53.85 (a)
soybean
(Glycine max)
eudicotyledons Gma.5571 35
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G01230 35
  • 59.1 (n)
  • 63.12 (a)
corn
(Zea mays)
Liliopsida Zm.7603 35
rice
(Oryza sativa)
Liliopsida Os.7573 35
Os06g0704900 35
  • 60.99 (n)
  • 63.12 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU04040 35
  • 58.86 (n)
  • 62.7 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC4F10.03c 35
  • 54.93 (n)
  • 65.18 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.210 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1601 36
  • 66 (a)
OneToOne
Species with no ortholog for FTSJ1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FTSJ1 Gene

ENSEMBL:
Gene Tree for FTSJ1 (if available)
TreeFam:
Gene Tree for FTSJ1 (if available)

Paralogs for FTSJ1 Gene

Selected SIMAP similar genes for FTSJ1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with FTSJ1: view

No data available for Paralogs for FTSJ1 Gene

Variants for FTSJ1 Gene

Sequence variations from dbSNP and Humsavar for FTSJ1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs2578 -- 48,482,829(-) GGGAA(A/G)GGGTC intron-variant, nc-transcript-variant
rs2579 -- 48,482,828(-) GGAAG(A/G)GGTCA intron-variant, nc-transcript-variant
rs760394 -- 48,481,592(+) GAGGA(A/G)GAAGC intron-variant
rs1016312 -- 48,480,937(+) aaatG(A/T)TAATG intron-variant
rs1045990 -- 48,482,848(+) TTTTT(C/T)TGACC intron-variant, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for FTSJ1 Gene

Variant ID Type Subtype PubMed ID
esv32909 CNV Gain+Loss 17666407
nsv528292 CNV Gain 19592680

Relevant External Links for FTSJ1 Gene

HapMap Linkage Disequilibrium report
FTSJ1
Human Gene Mutation Database (HGMD)
FTSJ1
Locus Specific Mutation Databases (LSDB)
FTSJ1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FTSJ1 Gene

Disorders for FTSJ1 Gene

(1) OMIM Diseases for FTSJ1 Gene (300499)

UniProtKB/Swiss-Prot

TRM7_HUMAN
  • Mental retardation, X-linked 44 (MRX44) [MIM:309549]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269 PubMed:15162322}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for FTSJ1 Gene

(2) Novoseek inferred disease relationships for FTSJ1 Gene

Disease -log(P) Hits PubMed IDs
mental retardation 42.1 3
tuberculosis 37.2 1

Relevant External Links for FTSJ1

Genetic Association Database (GAD)
FTSJ1
Human Genome Epidemiology (HuGE) Navigator
FTSJ1
genes like me logo Genes that share disorders with FTSJ1: view

Publications for FTSJ1 Gene

  1. Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine- binding protein cause nonsyndromic X-linked mental retardation. (PMID: 15162322) Freude K. … Ropers H.-H. (Am. J. Hum. Genet. 2004) 2 3 4 23
  2. A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9). (PMID: 15342698) Ramser J. … Kooy R.F. (J. Med. Genet. 2004) 2 3 23
  3. A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family. (PMID: 18081026) Takano K. … Goto Y. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008) 3 23
  4. Positive association of the FTSJ1 gene polymorphisms with nonsyndromic X-linked mental retardation in young Chinese male subjects. (PMID: 18401546) Dai L. … Zhang F. (J. Hum. Genet. 2008) 3 48
  5. Genetic variations in FTSJ1 influence cognitive ability in young males in the Chinese Han population. (PMID: 19012053) Gong P. … Zhang F. (J. Neurogenet. 2008) 3 48

Products for FTSJ1 Gene

Sources for FTSJ1 Gene

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