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FTSJ1
Identifiers
Aliases	FTSJ1, CDLIV, MRX44, MRX9, SPB1, TRMT7, JM23, FtsJ RNA methyltransferase homolog 1 (E. coli), FtsJ RNA methyltransferase homolog 1, FtsJ RNA 2'-O-methyltransferase 1, XLID9
External IDs	OMIM: 300499; MGI: 1859648; HomoloGene: 5372; GeneCards: FTSJ1; OMA:FTSJ1 - orthologs
Gene location (Human) Chr. X chromosome (human) Band Xp11.23 Start 48,476,021 bp End 48,486,364 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band X A1.1|X 3.73 cM Start 8,104,907 bp End 8,118,645 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium granulocyte body of pancreas ganglionic eminence left uterine tube cerebellar hemisphere right hemisphere of cerebellum right lobe of thyroid gland ascending aorta left adrenal cortex Top expressed in genital tubercle external carotid artery internal carotid artery fetal liver hematopoietic progenitor cell crypt of lieberkuhn of small intestine tail of embryo medial ganglionic eminence hair follicle barrel cortex left lobe of liver More reference expression data BioGPS More reference expression data
Gene ontology Molecular function methyltransferase activity transferase activity tRNA (guanosine-2'-O-)-methyltransferase activity tRNA (cytosine-2'-O-)-methyltransferase activity tRNA methyltransferase activity Cellular component cytosol cytoplasm Biological process methylation RNA methylation tRNA processing tRNA modification cytoplasmic translation tRNA methylation tRNA nucleoside ribose methylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 24140 54632 Ensembl ENSG00000068438 ENSMUSG00000031171 UniProt Q9UET6 n/a RefSeq (mRNA) NM_001282157 NM_012280 NM_177439 NM_001290430 NM_133991 RefSeq (protein) NP_001269086 NP_036412 NP_803188 n/a Location (UCSC) Chr X: 48.48 – 48.49 Mb Chr X: 8.1 – 8.12 Mb PubMed search
Wikidata
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Putative ribosomal RNA methyltransferase 1 is an enzyme that in humans is encoded by the FTSJ1 gene.

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.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000068438 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000031171 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. ^ "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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2005Natur.434..325R. 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. S2CID 24726611.

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