Property Summary

NCBI Gene PubMed Count 10
PubMed Score 23.58
PubTator Score 10.88

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
medulloblastoma, large-cell 1.600 0.002

Synonym

Accession Q96GW9 A0AVC3 Q76E79 Q8IW62 Q8N7N4
Symbols MetRS
COXPD25
mtMetRS

Gene

PANTHER Protein Class (2)

MLP Assay (2)

AID Type Active / Inconclusive / Inactive Description
720620 screening 1 / 0 / 53 Late stage assay provider counterscreen for inhibitors of Trypanosoma brucei methionyl tRNA synthetase (MetRS): radioactivity-based cell-based assay to identify compounds that inhibit human mitochondrial MetRS.
743061 screening 3 / 0 / 102 Late stage assay provider counterscreen for inhibitors of Trypanosoma brucei methionyl tRNA synthetase (MetRS): radioactivity-based cell-based assay to identify compounds that inhibit human mitochondrial MetRS (Round1)

Gene RIF (4)

PMID Text
25754315 Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss
22448145 MARS2 is mutated in Autosomal Recessive Spastic Ataxia with Leukoencephalopathy patients.
20877624 Observational study of gene-disease association. (HuGE Navigator)
15274629 Sequence analysis of mitochondrial MetRS indicates that this protein contains consensus motifs characteristic of class I aminoacyl-tRNA synthetase but lacks Zn2+ binding motif and C-terminal dimerization region found in MetRSs from various organisms.

AA Sequence

MLRTSVLRLLGRTGASRLSLLEDFGPRYYSSGSLSAGDDACDVRAYFTTPIFYVNAAPHIGHLYSALLAD      1 - 70
ALCRHRRLRGPSTAATRFSTGTDEHGLKIQQAAATAGLAPTELCDRVSEQFQQLFQEAGISCTDFIRTTE     71 - 140
ARHRVAVQHFWGVLKSRGLLYKGVYEGWYCASDECFLPEAKVTQQPGPSGDSFPVSLESGHPVSWTKEEN    141 - 210
YIFRLSQFRKPLQRWLRGNPQAITPEPFHHVVLQWLDEELPDLSVSRRSSHLHWGIPVPGDDSQTIYVWL    211 - 280
DALVNYLTVIGYPNAEFKSWWPATSHIIGKDILKFHAIYWPAFLLGAGMSPPQRICVHSHWTVCGQKMSK    281 - 350
SLGNVVDPRTCLNRYTVDGFRYFLLRQGVPNWDCDYYDEKVVKLLNSELADALGGLLNRCTAKRINPSET    351 - 420
YPAFCTTCFPSEPGLVGPSVRAQAEDYALVSAVATLPKQVADHYDNFRIYKALEAVSSCVRQTNGFVQRH    421 - 490
APWKLNWESPVDAPWLGTVLHVALECLRVFGTLLQPVTPSLADKLLSRLGVSASERSLGELYFLPRFYGH    491 - 560
PCPFEGRRLGPETGLLFPRLDQSRTWLVKAHRT                                         561 - 593
//

Text Mined References (12)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25754315 2015 Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
22448145 2012 Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15779907 2005 Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15274629 2004 Characterization of the human mitochondrial methionyl-tRNA synthetase.
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