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Aliases for FTSJ1 Gene

Aliases for FTSJ1 Gene

  • FtsJ RNA Methyltransferase Homolog 1 2 3 5
  • 2-O-Ribose RNA Methyltransferase TRM7 Homolog 3 4
  • Putative TRNA (Cytidine(32)/Guanosine(34)-2-O)-Methyltransferase 3
  • TRNA Methyltransferase 7 Homolog (S. Cerevisiae) 2
  • FtsJ RNA Methyltransferase Homolog 1 (E. Coli) 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
  • FtsJ-Like Protein 1 3
  • EC 4
  • CDLIV 3
  • TRMT7 3
  • MRX44 3
  • JM23 3
  • SPB1 3
  • MRX9 3

External Ids for FTSJ1 Gene

Previous HGNC Symbols for FTSJ1 Gene

  • MRX9
  • MRX44

Previous GeneCards Identifiers for FTSJ1 Gene

  • GC0XP047137
  • GC0XP046595
  • GC0XP047380
  • GC0XP048090
  • GC0XP048219
  • GC0XP048334
  • GC0XP045998

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 cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

GeneCards Summary for FTSJ1 Gene

FTSJ1 (FtsJ RNA Methyltransferase Homolog 1) is a Protein Coding gene. Diseases associated with FTSJ1 include X-Linked Non-Specific Intellectual Disability and Chromosome 15Q24 Deletion Syndrome. Among its related pathways are tRNA processing and Gene Expression. Gene Ontology (GO) annotations related to this gene include methyltransferase activity and tRNA 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

Additional gene information for FTSJ1 Gene

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

Genomics for FTSJ1 Gene

GeneHancer (GH) Regulatory Elements for FTSJ1 Gene

Promoters and enhancers for FTSJ1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ048474 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 690.1 +0.5 479 3.5 CLOCK ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143 SP3 FTSJ1 ENSG00000270012 ENSG00000204620 ZNF81 CCDC22 RBM3 ARAF GC0XP048480
GH0XJ048467 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 52.4 -6.5 -6477 5 HDGF PKNOX1 ARNT SIN3A DMAP1 TCF12 GATA2 ARID2 ZNF143 ZNF263 SLC38A5 FTSJ1 ENSG00000270012 ZNF81 ENSG00000204620 ZNF182 PQBP1 CCDC22 ENSG00000228343 RBM3
GH0XJ049163 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 36.7 +690.0 689965 5.6 HDGF PKNOX1 SMAD1 SIN3A ZNF2 YY1 POLR2B ZNF213 ZNF207 ZNF143 PLP2 ENSG00000279422 FTSJ1 ENSG00000204620 ENSG00000270012 HDAC6 CACNA1F MAGIX GC0XP049169
GH0XJ048916 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 33.7 +443.7 443744 5.6 HNRNPUL1 PKNOX1 FOXA2 SMAD1 ARID4B SIN3A ZNF2 ZBTB7B YY1 POLR2B PIM2 ENSG00000204620 FTSJ1 ENSG00000270012 RBM3 PQBP1 CCDC22 ZNF182 PLP2 OTUD5
GH0XJ047657 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 35.9 -817.3 -817282 2.9 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B UXT UXT-AS1 INE1 ENSG00000204620 ZNF81 UBA1 FTSJ1 RBM3 ZNF182 RBM10
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FTSJ1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FTSJ1 gene promoter:
  • p53
  • E2F-5
  • E2F-4
  • E2F-3a
  • E2F-2

Genomic Locations for FTSJ1 Gene

Genomic Locations for FTSJ1 Gene
10,344 bases
Plus strand
10,212 bases
Plus strand

Genomic View for FTSJ1 Gene

Genes around FTSJ1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FTSJ1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FTSJ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FTSJ1 Gene

Proteins for FTSJ1 Gene

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

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

    Protein attributes for FTSJ1 Gene

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

    Alternative splice isoforms for FTSJ1 Gene


neXtProt entry for FTSJ1 Gene

Post-translational modifications for FTSJ1 Gene

  • Ubiquitination at isoforms=234
  • Modification sites at PhosphoSitePlus

Other Protein References for FTSJ1 Gene

No data available for DME Specific Peptides for FTSJ1 Gene

Domains & Families for FTSJ1 Gene

Gene Families for FTSJ1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for FTSJ1 Gene

Graphical View of Domain Structure for InterPro Entry



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

Function for FTSJ1 Gene

Molecular function for FTSJ1 Gene

UniProtKB/Swiss-Prot Function:
Methylates the 2-O-ribose of nucleotides at positions 32 and 34 of the tRNA anticodon loop of substrate tRNAs.
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.

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 IEA --
GO:0008173 RNA methyltransferase activity IBA --
GO:0008175 tRNA methyltransferase activity IEA,IBA --
GO:0009020 tRNA (guanosine-2-O-)-methyltransferase activity EXP 25404562
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with FTSJ1: view
genes like me logo Genes that share phenotypes with FTSJ1: view

Human Phenotype Ontology for FTSJ1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FTSJ1 Gene

MGI Knock Outs for FTSJ1:
  • Ftsj1 Ftsj1<tm1b(EUCOMM)Wtsi>

Animal Model Products

miRNA for FTSJ1 Gene

Clone Products

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for FTSJ1 Gene

Localization for FTSJ1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FTSJ1 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FTSJ1 gene
Compartment Confidence
cytosol 5
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FTSJ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with FTSJ1: view

Pathways & Interactions for FTSJ1 Gene

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

Pathways by source for FTSJ1 Gene

Gene Ontology (GO) - Biological Process for FTSJ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001510 RNA methylation IBA --
GO:0002128 tRNA nucleoside ribose methylation IEA --
GO:0002181 cytoplasmic translation IBA --
GO:0006400 tRNA modification TAS --
GO:0008033 tRNA processing IEA --
genes like me logo Genes that share ontologies with FTSJ1: view

No data available for SIGNOR curated interactions for FTSJ1 Gene

Drugs & Compounds for FTSJ1 Gene

(1) Drugs for FTSJ1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
s-adenosylhomocysteine Experimental Pharma 0

(1) Additional Compounds for FTSJ1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
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:

Clone Products

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: -

ExUns: 12 ^ 13 ^ 14 ^ 15a · 15b · 15c
SP1: -
SP2: -
SP9: - -

Relevant External Links for FTSJ1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FTSJ1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FTSJ1 Gene

Protein differential expression in normal tissues from HIPED for FTSJ1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (22.0), Retina (14.5), Testis (14.0), Ovary (11.5), and Placenta (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FTSJ1 Gene

Protein tissue co-expression partners for FTSJ1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FTSJ1 Gene:


SOURCE GeneReport for Unigene cluster for FTSJ1 Gene:


mRNA Expression by UniProt/SwissProt for FTSJ1 Gene:

Tissue specificity: Found in fetal brain, lung, liver and kidney. In the adult brain, expressed in amygdala, caudate nucleus, corpus callosum, hippocampus and thalamus.

Evidence on tissue expression from TISSUES for FTSJ1 Gene

  • Nervous system(4.8)
  • Lung(2.4)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FTSJ1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • salivary gland
  • skull
  • tooth
  • lung
  • rib
  • rib cage
  • pelvis
  • testicle
  • urinary bladder
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns 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
(Canis familiaris)
Mammalia FTSJ1 34 33
  • 91.79 (n)
(Bos Taurus)
Mammalia FTSJ1 34 33
  • 91.07 (n)
-- 34
  • 85 (a)
-- 34
  • 84 (a)
(Mus musculus)
Mammalia Ftsj1 16 34 33
  • 86.93 (n)
(Rattus norvegicus)
Mammalia Ftsj1 33
  • 85.95 (n)
(Monodelphis domestica)
Mammalia FTSJ1 34
  • 79 (a)
(Ornithorhynchus anatinus)
Mammalia FTSJ1 34
  • 49 (a)
(Anolis carolinensis)
Reptilia FTSJ1 34
  • 67 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.19492 33
African clawed frog
(Xenopus laevis)
Amphibia ftsj1-A-prov 33
(Danio rerio)
Actinopterygii ftsj1 34 33
  • 67.69 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3199 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003974 33
  • 63.61 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5220 34 35 33
  • 61.04 (n)
CG7009 34 35
  • 46 (a)
(Caenorhabditis elegans)
Secernentea R74.7 34 35 33
  • 56.03 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR036W 33
  • 55.87 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TRM7 36 34 33
  • 50.88 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F18414g 33
  • 49.3 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G01230 33
  • 59.1 (n)
(Glycine max)
eudicotyledons Gma.5571 33
(Oryza sativa)
Liliopsida Os06g0704900 33
  • 60.99 (n)
Os.7573 33
(Zea mays)
Liliopsida Zm.7603 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1601 34
  • 66 (a)
Cin.210 33
bread mold
(Neurospora crassa)
Ascomycetes NCU04040 33
  • 58.86 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC4F10.03c 33
  • 54.93 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.210 33
Species where no ortholog for FTSJ1 was found in the sources mined by GeneCards:
  • 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

Gene Tree for FTSJ1 (if available)
Gene Tree for FTSJ1 (if available)
Evolutionary constrained regions (ECRs) for FTSJ1: view image

Paralogs for FTSJ1 Gene

(1) SIMAP similar genes for FTSJ1 Gene using alignment to 2 proteins:

  • B7Z4K4_HUMAN
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 Variation AA Info Type
rs797044864 pathogenic, Inborn genetic diseases 48,478,081(+) T/A coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs183649523 likely-benign, not provided 48,482,397(+) C/G intron_variant
rs78979358 likely-benign, not provided 48,479,062(+) C/G 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs34407506 likely-benign, not specified 48,481,452(+) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs143734567 uncertain-significance, not provided 48,482,599(+) A/G coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
nsv528292 CNV gain 19592680
esv3573946 CNV loss 25503493
esv32909 CNV gain+loss 17666407

Variation tolerance for FTSJ1 Gene

Residual Variation Intolerance Score: 48.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.23; 24.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FTSJ1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for FTSJ1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for FTSJ1 Gene - From: HGMD, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
x-linked non-specific intellectual disability
  • x-linked non-syndromic intellectual disability
chromosome 15q24 deletion syndrome
  • 15q24 microdeletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search FTSJ1 in MalaCards View complete list of genes associated with diseases


  • 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.

Additional Disease Information for FTSJ1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FTSJ1: view

No data available for Genatlas for FTSJ1 Gene

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 HH (American journal of human genetics 2004) 2 3 4 22 58
  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 RF (Journal of medical genetics 2004) 2 3 22 58
  3. A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family. (PMID: 18081026) Takano K … Japanese Mental Retardation Consortium (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 22 58
  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 (Journal of human genetics 2008) 3 44 58
  5. Genetic variations in FTSJ1 influence cognitive ability in young males in the Chinese Han population. (PMID: 19012053) Gong P … Zhang F (Journal of neurogenetics 2008) 3 44 58

Products for FTSJ1 Gene

Sources for FTSJ1 Gene

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