Property Summary

NCBI Gene PubMed Count 21
PubMed Score 44.24
PubTator Score 17.96

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Expression

  Differential Expression (5)

Disease log2 FC p
medulloblastoma, large-cell 1.100 1.1e-05
colon cancer 1.600 3.6e-04
spina bifida -1.152 4.0e-02
Pick disease -1.100 4.1e-04
ovarian cancer 1.900 1.0e-05

Gene RIF (10)

PMID Text
26310293 we have provided strong evidence that human FTSJ1 is required for Cm32 and Gm34 modification of tRNAPhe.
19012053 These findings suggest that genetic variations in FtsJ homolog 1 (E. coli) possibly influence human cognitive ability.
19012053 Observational study of gene-disease association. (HuGE Navigator)
18401546 Results suggest a positive association between genetic variants and nonsyndromic X-linked mental retardation in young male subjects in the Chinese Han population.
18401546 Observational study of gene-disease association. (HuGE Navigator)
18081026 identified a novel FTSJ1 mutation in an X-linked mental retardation family through mutation screening of a cohort of 73 unrelated Japanese male probands with MR
17333282 A 50kb deletion at Xp11.23 including the two genes, SLC38A5 and FTSJ1 was found in 3 brothers with moderate to severe mental retardation.
15342698 A splice site mutation is associated with non-syndromic mental retardation in a large Belgian family
15162322 May play a role in the regulation of translation. Mutations cause X-linked mental retardation.
10648622 Spb1p is a homologous yeast nucleolar protein

AA Sequence

MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTRAVDLCAAPGSWSQVLSQKIGGQGSGH      1 - 70
VVAVDLQAMAPLPGVVQIQGDITQLSTAKEIIQHFKGCPADLVVCDGAPDVTGLHDVDEYMQAQLLLAAL     71 - 140
NIATHVLKPGGCFVAKIFRGRDVTLLYSQLQVFFSSVLCAKPRSSRNSSIEAFAVCQGYDPPEGFIPDLS    141 - 210
KPLLDHSYDPDFNQLDGPTRIIVPFVTCGDLSSYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACTL    211 - 280
KRKGQLAKEIRPQDCPISRVDTFPQPLAAPQCHTLLAPEMEDNEMSCSP                         281 - 329
//

Text Mined References (26)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26310293 2015 Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21269460 2011 Initial characterization of the human central proteome.
20662849 2011 Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development.
20613765 2010 Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19012053 2008 Genetic variations in FTSJ1 influence cognitive ability in young males in the Chinese Han population.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18401546 2008 Positive association of the FTSJ1 gene polymorphisms with nonsyndromic X-linked mental retardation in young Chinese male subjects.
18081026 2008 A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family.
17333282 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.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342698 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).
15162322 2004 Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12801724 2003 Nonsyndromic X-linked mental retardation: where are the missing mutations?
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10648622 2000 Spb1p is a yeast nucleolar protein associated with Nop1p and Nop58p that is able to bind S-adenosyl-L-methionine in vitro.
10398246 1999 Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis.
8288232 1993 Localization of a gene responsible for nonspecific mental retardation (MRX9) to the pericentromeric region of the X chromosome.
1605216 1992 Nomenclature guidelines for X-linked mental retardation.