Biology:FTSJ1
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Putative ribosomal RNA methyltransferase 1 is an enzyme that in humans is encoded by the FTSJ1 gene.[1][2][3]
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.[3]
References
- ↑ "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. Sep 2004. doi:10.1136/jmg.2004.019000. PMID 15342698.
- ↑ "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. Aug 2004. doi:10.1086/422507. PMID 15162322.
- ↑ 3.0 3.1 "Entrez Gene: FTSJ1 FtsJ homolog 1 (E. coli)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=24140.
Further reading
- "Nomenclature guidelines for X-linked mental retardation". Am. J. Med. Genet. 43 (1–2): 383–91. 1992. doi:10.1002/ajmg.1320430159. PMID 1605216.
- "Localization of a gene responsible for nonspecific mental retardation (MRX9) to the pericentromeric region of the X chromosome". Genomics 18 (2): 290–4. 1994. doi:10.1006/geno.1993.1468. PMID 8288232.
- "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. 2000. doi:10.1002/(SICI)1096-8628(19990730)85:3<290::AID-AJMG21>3.0.CO;2-H. PMID 10398246.
- "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. 2000. doi:10.1128/MCB.20.4.1370-1381.2000. PMID 10648622.
- "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. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Nonsyndromic X-linked mental retardation: where are the missing mutations?". Trends Genet. 19 (6): 316–20. 2003. doi:10.1016/S0168-9525(03)00113-6. PMID 12801724.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "The DNA sequence of the human X chromosome". Nature 434 (7031): 325–37. 2005. doi:10.1038/nature03440. PMID 15772651. Bibcode: 2005Natur.434..325R.
- "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. 2007. doi:10.1007/s00439-007-0343-1. PMID 17333282.
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