Property Summary

NCBI Gene PubMed Count 15
PubMed Score 193.74
PubTator Score 40.75

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
ependymoma -1.200 7.2e-03
psoriasis -1.100 4.0e-03
osteosarcoma -1.955 3.0e-03
lung cancer 1.800 1.5e-04
adult high grade glioma 1.100 5.2e-03
group 4 medulloblastoma -1.100 3.5e-03
aldosterone-producing adenoma -1.393 1.2e-02

Gene RIF (4)

PMID Text
25037205 show that in addition to early-onset cardiomyopathy, TSFM mutations should be considered in childhood and juvenile encephalopathies with optic and/or peripheral neuropathy, ataxia, or Leigh disease
21741925 identified a homozygous mutation changing a highly conserved arginine into a tryptophan (R312W) in a kindred with intrauterine growth retardation, neonatal lactic acidosis, liver dysfunction and multiple respiratory chain deficiency in muscle
20877624 Observational study of gene-disease association. (HuGE Navigator)
17033963 Molecular modeling showed that the Arg333Trp substitution disrupts local subdomain structure and the dimerization interface.

AA Sequence

MSLLRSLRVFLVARTGSYPAGSLLRQSPQPRHTFYAGPRLSASASSKELLMKLRRKTGYSFVNCKKALET      1 - 70
CGGDLKQAEIWLHKEAQKEGWSKAAKLQGRKTKEGLIGLLQEGNTTVLVEVNCETDFVSRNLKFQLLVQQ     71 - 140
VALGTMMHCQTLKDQPSAYSKGFLNSSELSGLPAGPDREGSLKDQLALAIGKLGENMILKRAAWVKVPSG    141 - 210
FYVGSYVHGAMQSPSLHKLVLGKYGALVICETSEQKTNLEDVGRRLGQHVVGMAPLSVGSLDDEPGGEAE    211 - 280
TKMLSQPYLLDPSITLGQYVQPQGVSVVDFVRFECGEGEEAAETE                             281 - 325
//

Text Mined References (23)

PMID Year Title
27677415 2016 Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25037205 2014 Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
22499341 2012 Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.
21741925 2012 Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20843780 2011 Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17033963 2006 Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.
16632485 2006 The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1.
16583711 2006 [Identification of the proteins interacting with neuroprotective peptide humanin in a yeast two-hybrid system].
16541075 2006 The finished DNA sequence of human chromosome 12.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10965106 2000 Assignment of the mitochondrial translation elongation factor Ts gene (TSFM) to human chromosome 12 bands q13-->q14 by in situ hybridization and with somatic cell hybrids.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
7615523 1995 Cloning and expression of mitochondrial translational elongation factor Ts from bovine and human liver.