Property Summary

NCBI Gene PubMed Count 21
Grant Count 1
R01 Count 1
Funding $47,969
PubMed Score 44.24
PubTator Score 17.96

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
medulloblastoma, large-cell 1.100 0.000
colon cancer 1.600 0.000
spina bifida -1.152 0.040
Pick disease -1.100 0.000
ovarian cancer 1.900 0.000

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.
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