LARS2
Leucine--tRNA ligase, mitochondrial
Also known as: KIAA0028, LEURS, MGC26121, mtLeuRS, SYLM_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q15031
- Gene
- LARS2
- Ensembl
- ENSG00000011376
- Chromosome
- 3
- Canonical length
- 903 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Mitochondria
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
903 residues, UniProt reviewed canonical sequence.
>Q15031|LARS2
1 MASVWQRLGF YASLLKRQLN GGPDVIKWER RVIPGCTRSI YSATGKWTKE YTLQTRKDVE
61 KWWHQRIKEQ ASKISEADKS KPKFYVLSMF PYPSGKLHMG HVRVYTISDT IARFQKMRGM
121 QVINPMGWDA FGLPAENAAV ERNLHPQSWT QSNIKHMRKQ LDRLGLCFSW DREITTCLPD
181 YYKWTQYLFI KLYEAGLAYQ KEALVNWDPV DQTVLANEQV DEHGCSWRSG AKVEQKYLRQ
241 WFIKTTAYAK AMQDALADLP EWYGIKGMQA HWIGDCVGCH LDFTLKVHGQ ATGEKLTAYT
301 ATPEAIYGTS HVAISPSHRL LHGHSSLKEA LRMALVPGKD CLTPVMAVNM LTQQEVPVVI
361 LAKADLEGSL DSKIGIPSTS SEDTILAQTL GLAYSEVIET LPDGTERLSS SAEFTGMTRQ
421 DAFLALTQKA RGKRVGGDVT SDKLKDWLIS RQRYWGTPIP IVHCPVCGPT PVPLEDLPVT
481 LPNIASFTGK GGPPLAMASE WVNCSCPRCK GAAKRETDTM DTFVDSAWYY FRYTDPHNPH
541 SPFNTAVADY WMPVDLYIGG KEHAVMHLFY ARFFSHFCHD QKMVKHREPF HKLLAQGLIK
601 GQTFRLPSGQ YLQREEVDLT GSVPVHAKTK EKLEVTWEKM SKSKHNGVDP EEVVEQYGID
661 TIRLYILFAA PPEKDILWDV KTDALPGVLR WQQRLWTLTT RFIEARASGK SPQPQLLSNK
721 EKAEARKLWE YKNSVISQVT THFTEDFSLN SAISQLMGLS NALSQASQSV ILHSPEFEDA
781 LCALMVMAAP LAPHVTSEIW AGLALVPRKL CAHYTWDASV LLQAWPAVDP EFLQQPEVVQ
841 MAVLINNKAC GKIPVPQQVA RDQDKVHEFV LQSELGVRLL QGRSIKKSFL SPRTALINFL
901 VQDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against LARS2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.25
- Highest tissue expression
- 12 nTPM
Expression across tissuesHPA
Tissue
- basal ganglia: 12 nTPM
- parathyroid gland: 12 nTPM
- cerebral cortex: 11 nTPM
- amygdala: 10 nTPM
- midbrain: 9 nTPM
- liver: 8.7 nTPM
Single-cell type
- myonuclei: 127 nCPM
- choroid plexus epithelial cells: 90 nCPM
- ependymal cells: 87 nCPM
- distal convoluted tubule cells: 78 nCPM
- sertoli cells: 77 nCPM
- cone photoreceptor cells: 77 nCPM
Immune cell
- NK-cell: 2 nTPM
- MAIT T-cell: 1.6 nTPM
- gdT-cell: 1.3 nTPM
- myeloid DC: 1.3 nTPM
- memory B-cell: 1.1 nTPM
- memory CD8 T-cell: 1.1 nTPM
Brain region
- thalamus: 13 nTPM
- hypothalamus: 11 nTPM
- midbrain: 11 nTPM
- basal ganglia: 10 nTPM
- cerebellum: 10 nTPM
- cerebral cortex: 10 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about LARS2.
Disease | AllUniProt
Conditions LARS2 is implicated in, by any mechanism.
- Perrault syndrome 4 (PRLTS4) MIM:615300
- Hydrops, lactic acidosis, and sideroblastic anemia (HLASA) MIM:617021
Disease | GeneticClinVar
65 pathogenic / likely-pathogenic of 633 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Perrault syndrome 4
- Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
- Perrault syndrome
- Rare genetic deafness
- LARS2-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.86
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.33
- DepMap mean gene effect
- -0.42
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Aminoacyl-tRNA synthetase, class I, conserved site
- Aminoacyl-tRNA synthetase, class Ia
- Valyl/Leucyl/Isoleucyl-tRNA synthetase, editing domain
- Aminoacyl-tRNA synthetase, class Ia, anticodon-binding
- Methionyl/Valyl/Leucyl/Isoleucyl-tRNA synthetase, anticodon-binding
- Rossmann-like alpha/beta/alpha sandwich fold
- tRNA synthetases class I (I, L, M and V)
- Anticodon-binding domain of tRNA ligase
- Leucine-tRNA ligase
- Leucyl-tRNA synthetase, editing domain
- Leucyl-tRNA synthetase, editing domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of LARS2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads LARS2 as an antibody target. Whether an autoantibody or antibody against LARS2 could matter depends on whether native LARS2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
LARS2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label LARS2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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