Property Summary

NCBI Gene PubMed Count 13
Grant Count 205
R01 Count 137
Funding $26,762,034.1
PubMed Score 236.80
PubTator Score 36.94

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q5JPH6 B3KTT2 D3DWF1 Q86YH3 Q8TF31
Symbols MSE1
gluRS
COXPD12

Gene

PANTHER Protein Class (1)

Gene RIF (4)

PMID Text
22492562 This study presented that a new neurological disease, early-onset leukoencephalopathy with thalamus and brainstem involvement and high lactate, defined by a peculiar biphasic clinical course and caused by mutations in a single gene, EARS2.
22277967 Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients
20877624 Observational study of gene-disease association. (HuGE Navigator)
19805282 Studies showed in vitro Gln-tRNA(Gln) formation catalyzed by the recombinant mtGluRS and hGatCAB.

AA Sequence

MAALLRRLLQRERPSAASGRPVGRREANLGTDAGVAVRVRFAPSPTGFLHLGGLRTALYNYIFAKKYQGS      1 - 70
FILRLEDTDQTRVVPGAAENIEDMLEWAGIPPDESPRRGGPAGPYQQSQRLELYAQATEALLKTGAAYPC     71 - 140
FCSPQRLELLKKEALRNHQTPRYDNRCRNMSQEQVAQKLAKDPKPAIRFRLEQVVPAFQDLVYGWNRHEV    141 - 210
ASVEGDPVIMKSDGFPTYHLACVVDDHHMGISHVLRGSEWLVSTAKHLLLYQALGWQPPHFAHLPLLLNR    211 - 280
DGSKLSKRQGDVFLEHFAADGFLPDSLLDIITNCGSGFAENQMGRTLPELITQFNLTQVTCHSALLDLEK    281 - 350
LPEFNRLHLQRLVSNESQRRQLVGKLQVLVEEAFGCQLQNRDVLNPVYVERILLLRQGHICRLQDLVSPV    351 - 420
YSYLWTRPAVGRAQLDAISEKVDVIAKRVLGLLERSSMSLTQDMLNGELKKLSEGLEGTKYSNVMKLLRM    421 - 490
ALSGQQQGPPVAEMMLALGPKEVRERIQKVVSS                                         491 - 523
//

Text Mined References (19)

PMID Year Title
26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23008233 2013 Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.
22492562 2012 Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
22277967 2012 Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
19805282 2009 Biogenesis of glutaminyl-mt tRNAGln in human mitochondria.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
More...