• Gene id: 24140

Gene Summary

• Gene Symbol: FTSJ1   Gene   UCSC   Ensembl
• Aliases: CDLIV, JM23, MRX44, MRX9, SPB1, TRMT7
• Gene name: FtsJ RNA 2'-O-methyltransferase 1
• Alternate names: putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase, 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-),
• Gene location: Xp11.23 (48476020: 48486363)     Exons: 15     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 300499

Protein Summary

• Protein general information: Q9UET6  
  • Name: Putative tRNA (cytidine(32)/guanosine(34) 2' O) methyltransferase (EC 2.1.1.205) (2' O ribose RNA methyltransferase TRM7 homolog) (Protein ftsJ homolog 1)
  • Length: 329  
  • Mass: 36079
  • Tissue specificity: Found in fetal brain, lung, liver and kidney. In the adult brain, expressed in amygdala, caudate nucleus, corpus callosum, hippocampus and thalamus. {ECO
• Sequence:

  MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTRAVDLCAAPGSWSQVLSQKIGGQGSGHVVAVD
  LQAMAPLPGVVQIQGDITQLSTAKEIIQHFKGCPADLVVCDGAPDVTGLHDVDEYMQAQLLLAALNIATHVLKPG
  GCFVAKIFRGRDVTLLYSQLQVFFSSVLCAKPRSSRNSSIEAFAVCQGYDPPEGFIPDLSKPLLDHSYDPDFNQL
  DGPTRIIVPFVTCGDLSSYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACTLKRKGQLAKEIRPQDCPISRV
  DTFPQPLAAPQCHTLLAPEMEDNEMSCSP

• Structural information:
  • Interpro: IPR028590  IPR015507  IPR002877  IPR029063  
  • STRING: ENSP00000326948
• Other Databases: GeneCards:  FTSJ1  Malacards:  FTSJ1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030488	tRNA methylation	IBA	biological process
GO:0002181	cytoplasmic translation	IBA	biological process
GO:0001510	RNA methylation	IBA	biological process
GO:0008175	tRNA methyltransferase activity	IBA	molecular function
GO:0008173	RNA methyltransferase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0001510	RNA methylation	IEA	biological process
GO:0008033	tRNA processing	IEA	biological process
GO:0032259	methylation	IEA	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0008175	tRNA methyltransferase activity	IEA	molecular function
GO:0008033	tRNA processing	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0052666	tRNA (cytosine-2'-O-)-methyltransferase activity	EXP	molecular function
GO:0052666	tRNA (cytosine-2'-O-)-methyltransferase activity	EXP	molecular function
GO:0009020	tRNA (guanosine-2'-O-)-methyltransferase activity	EXP	molecular function
GO:0009020	tRNA (guanosine-2'-O-)-methyltransferase activity	EXP	molecular function
GO:0006400	tRNA modification	TAS	biological process
GO:0006400	tRNA modification	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0002181	cytoplasmic translation	IEA	biological process
GO:0008175	tRNA methyltransferase activity	IEA	molecular function
GO:0002128	tRNA nucleoside ribose methylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
X-linked mental retardation	KEGG:H00480
X-linked mental retardation	KEGG:H00480
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881