FTSJ1

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
Gene location (Human) Chr. X chromosome (human) [1] Band Xp11.23 Start 48,476,021 bp [1] End 48,486,364 bp [1]
Gene location (Mouse) Chr. X chromosome (mouse) [2] Band X A1.1|X 3.73 cM Start 8,104,907 bp [2] End 8,118,645 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium body of pancreas ganglionic eminence left uterine tube cerebellar hemisphere right lobe of thyroid gland ascending aorta canal of the cervix periodontal fiber anterior pituitary Top expressed in external carotid artery internal carotid artery crypt of lieberkuhn of small intestine medial ganglionic eminence hair follicle barrel cortex left lobe of liver right lung lobe interventricular septum abdominal wall 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 [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Putative ribosomal RNA methyltransferase 1 is an enzyme that in humans is encoded by the FTSJ1 gene. ^{[5] [6] [7]}

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. ^[7]

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.