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  5. Probable leucine--tRNA ligase, mitochondrial

Tbio Probable leucine--tRNA ligase, mitochondrial

This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided by RefSeq, Jul 2008]

 Comments

Property Summary

NCBI Gene PubMed Count 25
PubMed Score 125.41
PubTator Score 24.95

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Gonadal dysgenesis XX type deafness 4
Disease Target Count P-value
ovarian cancer 8491 3.1e-06
osteosarcoma 7933 2.3e-05
psoriasis 6685 8.0e-04
tuberculosis and treatment for 3 months 327 4.0e-03
lung cancer 4473 1.8e-02
Disease Target Count Z-score Confidence
Perrault syndrome 12 6.517 3.3
Disease Target Count
Perrault syndrome 4 1

Expression

  Differential Expression (5)

Disease log2 FC p
psoriasis 1.200 8.0e-04
osteosarcoma -1.991 2.3e-05
tuberculosis and treatment for 3 months -1.100 4.0e-03
lung cancer 2.300 1.8e-02
ovarian cancer 1.800 3.1e-06

Synonym

Accession Q15031
Symbols HLASA
LEURS
PRLTS4
mtLeuRS

Gene

LARS2

PANTHER Protein Class (2)

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 UniProt Keyword (14)

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 GO Function (3)

 GO Component (2)

 GO Process (2)

 Compartment GO Term (22)

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 HCA RNA Cell Line (56)

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Pathway (7)

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)
15919814 In this study, we provide evidence that the LARS2 gene may represent a novel type 2 diabetes susceptibility gene.
15737668 Upregulation of LARS2 is a hallmark of 324A>G mutation. The accumulation of 3243A>G mutation in the brain may have a pathophysiologic role in bipolar disorder and schizophrenia.

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.
19847392 2010 Genetic association analysis of LARS2 with type 2 diabetes.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19129950 2009 Inactivation of LARS2, located at the commonly deleted region 3p21.3, by both epigenetic and genetic mechanisms in nasopharyngeal carcinoma.
18796578 2008 Overexpressed mitochondrial leucyl-tRNA synthetase suppresses the A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.
15919814 2005 Evidence that the mitochondrial leucyl tRNA synthetase (LARS2) gene represents a novel type 2 diabetes susceptibility gene.
15737668 2005 Mitochondrial DNA 3243A>G mutation and increased expression of LARS2 gene in the brains of patients with bipolar disorder and schizophrenia.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15123417 2004 Recognition of human mitochondrial tRNALeu(UUR) by its cognate leucyl-tRNA synthetase.
12821328 2003 Human mitochondrial leucyl-tRNA synthetase with high activity produced from Escherichia coli.
12549915 2003 The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation.
12527375 2003 The processing of human mitochondrial leucyl-tRNA synthetase in the insect cells.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10684970 2000 Expression and characterization of the human mitochondrial leucyl-tRNA synthetase.
10647888 1999 A novel gene containing LIM domains (LIMD1) is located within the common eliminated region 1 (C3CER1) in 3p21.3.
9408748 1997 Human/mouse microcell hybrid based elimination test reduces the putative tumor suppressor region at 3p21.3 to 1.6 cM.
7584028 1994 Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1 (supplement).
7584026 1994 Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1.
1684970 1991 [Midwife and research. Conference report].