FTSJ1

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FtsJ homolog 1 (E. coli)
Identifiers
Symbol(s) FTSJ1; CDLIV; JM23; MRX44; MRX9; SPB1; TRM7
External IDs OMIM: 300499 MGI: 1859648 HomoloGene: 5372
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 24140 54632
Ensembl ENSG00000068438 ENSMUSG00000031171
Uniprot Q9UET6 n/a
Refseq NM_012280 (mRNA)
NP_036412 (protein)		 XM_974077 (mRNA)
XP_979171 (protein)
Location Chr X: 48.22 - 48.23 Mb Chr X: 7.4 - 7.41 Mb
Pubmed search [1] [2]

FtsJ homolog 1 (E. coli), also known as FTSJ1, is a human gene.[1]

The protein encoded by this gene is a member of the S-adenosylmethionine-binding protein family. It is a nucleolar protein and may be involved in the processing and modification of rRNA. Three alternatively spliced transcript variants encoding different isoforms have been described for this gene.[1]

[edit] References

  1. ^ a b Entrez Gene: FTSJ1 FtsJ homolog 1 (E. coli).

[edit] Further reading

  • Mulley JC, Kerr B, Stevenson R, Lubs H (1992). "Nomenclature guidelines for X-linked mental retardation.". Am. J. Med. Genet. 43 (1-2): 383–91. PMID 1605216. 
  • Willems P, Vits L, Buntinx I, et al. (1994). "Localization of a gene responsible for nonspecific mental retardation (MRX9) to the pericentromeric region of the X chromosome.". Genomics 18 (2): 290–4. doi:10.1006/geno.1993.1468. PMID 8288232. 
  • Hamel BC, Smits AP, van den Helm B, et al. (2000). "Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis.". Am. J. Med. Genet. 85 (3): 290–304. PMID 10398246. 
  • Pintard L, Kressler D, Lapeyre B (2000). "Spb1p is a yeast nucleolar protein associated with Nop1p and Nop58p that is able to bind S-adenosyl-L-methionine in vitro.". Mol. Cell. Biol. 20 (4): 1370–81. PMID 10648622. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Ropers HH, Hoeltzenbein M, Kalscheuer V, et al. (2003). "Nonsyndromic X-linked mental retardation: where are the missing mutations?". Trends Genet. 19 (6): 316–20. PMID 12801724. 
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. 
  • Freude K, Hoffmann K, Jensen LR, et al. (2004). "Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.". Am. J. Hum. Genet. 75 (2): 305–9. doi:10.1086/422507. PMID 15162322. 
  • Ramser J, Winnepenninckx B, Lenski C, et al. (2005). "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).". J. Med. Genet. 41 (9): 679–83. doi:10.1136/jmg.2004.019000. PMID 15342698. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome.". Nature 434 (7031): 325–37. doi:10.1038/nature03440. PMID 15772651. 
  • Froyen G, Bauters M, Boyle J, et al. (2007). "Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.". Hum. Genet. 121 (5): 539–47. doi:10.1007/s00439-007-0343-1. PMID 17333282. 
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