Property Summary

NCBI Gene PubMed Count 25
Grant Count 28
R01 Count 22
Funding $4,434,269.54
PubMed Score 125.41
PubTator Score 24.95

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
psoriasis 1.200 0.001
osteosarcoma -1.991 0.000
tuberculosis and treatment for 3 months -1.100 0.004
lung cancer 2.300 0.018
ovarian cancer 1.800 0.000

Gene RIF (12)

PMID Text
26272616 analysis of the CP1 domain in human mitochondrial leucyl-tRNA synthetase
24413189 Leucyl tRNA synthetase is able to partially rescue defects caused by mutations in non-cognate itochondrial-tRNAs.
23541342 Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20194621 The alteration of aminoacylation tRNA(Leu(UUR)) caused by the A3243G mutation led to mitochondrial translational defects and thereby reduced the aminoacylated efficiencies of tRNA(Leu(UUR)) as well as tRNA(Ala) and tRNA(Met).
19847392 No evidence to support previous data indicating a role in type 2 diabetes susceptibility in humans with LARS2 single nucleotide polymorphisms
19847392 Observational study of gene-disease association. (HuGE Navigator)
19129950 data indicate that inactivation of LARS2 by both genetic and epigenetic mechanisms may be a common and important event in the carcinogenesis of nasopharyngeal carcinoma
18796578 There was investigated whether overexpression of human mitochondrial LeuRS suppressed translation and respiratory chain defects associated with the pathogenic A3243G mutation in human cells.
15919814 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MASVWQRLGFYASLLKRQLNGGPDVIKWERRVIPGCTRSIYSATGKWTKEYTLQTRKDVEKWWHQRIKEQ      1 - 70
ASKISEADKSKPKFYVLSMFPYPSGKLHMGHVRVYTISDTIARFQKMRGMQVINPMGWDAFGLPAENAAV     71 - 140
ERNLHPQSWTQSNIKHMRKQLDRLGLCFSWDREITTCLPDYYKWTQYLFIKLYEAGLAYQKEALVNWDPV    141 - 210
DQTVLANEQVDEHGCSWRSGAKVEQKYLRQWFIKTTAYAKAMQDALADLPEWYGIKGMQAHWIGDCVGCH    211 - 280
LDFTLKVHGQATGEKLTAYTATPEAIYGTSHVAISPSHRLLHGHSSLKEALRMALVPGKDCLTPVMAVNM    281 - 350
LTQQEVPVVILAKADLEGSLDSKIGIPSTSSEDTILAQTLGLAYSEVIETLPDGTERLSSSAEFTGMTRQ    351 - 420
DAFLALTQKARGKRVGGDVTSDKLKDWLISRQRYWGTPIPIVHCPVCGPTPVPLEDLPVTLPNIASFTGK    421 - 490
GGPPLAMASEWVNCSCPRCKGAAKRETDTMDTFVDSAWYYFRYTDPHNPHSPFNTAVADYWMPVDLYIGG    491 - 560
KEHAVMHLFYARFFSHFCHDQKMVKHREPFHKLLAQGLIKGQTFRLPSGQYLQREEVDLTGSVPVHAKTK    561 - 630
EKLEVTWEKMSKSKHNGVDPEEVVEQYGIDTIRLYILFAAPPEKDILWDVKTDALPGVLRWQQRLWTLTT    631 - 700
RFIEARASGKSPQPQLLSNKEKAEARKLWEYKNSVISQVTTHFTEDFSLNSAISQLMGLSNALSQASQSV    701 - 770
ILHSPEFEDALCALMVMAAPLAPHVTSEIWAGLALVPRKLCAHYTWDASVLLQAWPAVDPEFLQQPEVVQ    771 - 840
MAVLINNKACGKIPVPQQVARDQDKVHEFVLQSELGVRLLQGRSIKKSFLSPRTALINFLVQD           841 - 903
//

Text Mined References (28)

PMID Year Title
26537577 2016 LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.
26272616 2015 Degenerate connective polypeptide 1 (CP1) domain from human mitochondrial leucyl-tRNA synthetase.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24927181 2014 Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
24413189 2014 Human mitochondrial leucyl tRNA synthetase can suppress non cognate pathogenic mt-tRNA mutations.
23541342 2013 Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20194621 2010 Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes.
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