FTSJ1
| FtsJ RNA methyltransferase homolog 1 (E. coli) | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | FTSJ1 ; CDLIV; JM23; MRX44; MRX9; SPB1; TRMT7 | ||||||||||||
| External IDs | OMIM: 300499 MGI: 1859648 HomoloGene: 5372 GeneCards: FTSJ1 Gene | ||||||||||||
| EC number | 2.1.1.205 | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 24140 | 54632 | |||||||||||
| Ensembl | ENSG00000068438 | ENSMUSG00000031171 | |||||||||||
| UniProt | Q9UET6 | A2ALH1 | |||||||||||
| RefSeq (mRNA) | NM_001282157 | NM_001290430 | |||||||||||
| RefSeq (protein) | NP_001269086 | NP_001277359 | |||||||||||
| Location (UCSC) |
Chr X: 48.48 – 48.49 Mb |
Chr X: 8.24 – 8.25 Mb | |||||||||||
| PubMed search | |||||||||||||
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
- ↑ Ramser J, Winnepenninckx B, Lenski C, Errijgers V, Platzer M, Schwartz CE, Meindl A, Kooy RF (Sep 2004). "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. PMC 1735884. PMID 15342698.
- ↑ Freude K, Hoffmann K, Jensen LR, Delatycki MB, des Portes V, Moser B, Hamel B, van Bokhoven H, Moraine C, Fryns JP, Chelly J, Gecz J, Lenzner S, Kalscheuer VM, Ropers HH (Aug 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. PMC 1216064. PMID 15162322.
- 1 2 "Entrez Gene: FTSJ1 FtsJ homolog 1 (E. coli)".
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. doi:10.1002/ajmg.1320430159. 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. doi:10.1002/(SICI)1096-8628(19990730)85:3<290::AID-AJMG21>3.0.CO;2-H. 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. doi:10.1128/MCB.20.4.1370-1381.2000. PMC 85287. 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. PMC 139241. 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. doi:10.1016/S0168-9525(03)00113-6. 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.
- 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. PMC 528928. 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. PMC 2665286. 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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