Format

Send to:

Choose Destination

LARS2 leucyl-tRNA synthetase 2, mitochondrial [ Homo sapiens (human) ]

Gene ID: 23395, updated on 15-Sep-2018

Summary

Official Symbol
LARS2provided by HGNC
Official Full Name
leucyl-tRNA synthetase 2, mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:17095
See related
Ensembl:ENSG00000011376 MIM:604544; Vega:OTTHUMG00000133177
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HLASA; LEURS; PRLTS4; mtLeuRS
Summary
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]
Expression
Ubiquitous expression in kidney (RPKM 6.2), brain (RPKM 5.0) and 25 other tissues See more
Orthologs

Genomic context

See LARS2 in Genome Data Viewer
Location:
3p21.31
Exon count:
23
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (45388564..45548842)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (45430053..45590334)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 158 (gene/pseudogene) Neighboring gene uncharacterized LOC105377061 Neighboring gene uncharacterized LOC105377062 Neighboring gene LARS2 antisense RNA 1 Neighboring gene LIM domains containing 1 Neighboring gene transfer RNA-Arg (ACG) 2-1 Neighboring gene LIMD1 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hydrops, lactic acidosis, and sideroblastic anemia
MedGen: C4310761 OMIM: 617021 GeneReviews: Not available
Compare labs
Perrault syndrome 4
MedGen: C3809105 OMIM: 615300 GeneReviews: Perrault Syndrome
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0028, MGC26121

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
aminoacyl-tRNA editing activity IEA
Inferred from Electronic Annotation
more info
 
leucine-tRNA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
leucine-tRNA ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
leucine-tRNA ligase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
aminoacyl-tRNA metabolism involved in translational fidelity IEA
Inferred from Electronic Annotation
more info
 
leucyl-tRNA aminoacylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
leucyl-tRNA aminoacylation IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial translation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tRNA aminoacylation for protein translation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
probable leucine--tRNA ligase, mitochondrial
Names
leucine tRNA ligase 2, mitochondrial
leucine tRNA ligase 2, mitocondrial
leucine translase
probable leucyl-tRNA synthetase, mitochondrial
NP_056155.1
XP_005265063.1
XP_011531856.1
XP_016861531.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033907.1 RefSeqGene

    Range
    5001..165254
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015340.3NP_056155.1  probable leucine--tRNA ligase, mitochondrial

    See identical proteins and their annotated locations for NP_056155.1

    Status: REVIEWED

    Source sequence(s)
    BI463427, D21851
    Consensus CDS
    CCDS2728.1
    UniProtKB/Swiss-Prot
    Q15031
    Related
    ENSP00000495093.1, OTTHUMP00000164232, ENST00000645846.1, OTTHUMT00000256884
    Conserved Domains (1) summary
    PRK00390
    Location:57901
    leuS; leucyl-tRNA synthetase; Validated

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    45388564..45548842
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265006.2XP_005265063.1  probable leucine--tRNA ligase, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_005265063.1

    UniProtKB/Swiss-Prot
    Q15031
    Related
    ENSP00000408576.1, OTTHUMP00000210279, ENST00000415258.5
    Conserved Domains (1) summary
    PRK00390
    Location:57901
    leuS; leucyl-tRNA synthetase; Validated
  2. XM_017006042.1XP_016861531.1  probable leucine--tRNA ligase, mitochondrial isoform X3

  3. XM_011533554.2XP_011531856.1  probable leucine--tRNA ligase, mitochondrial isoform X2

    Conserved Domains (4) summary
    cd07958
    Location:678803
    Anticodon_Ia_Leu_BEm; Anticodon-binding domain of bacterial and eukaryotic mitochondrial leucyl tRNA synthetases
    cd00812
    Location:83678
    LeuRS_core; catalytic core domain of leucyl-tRNA synthetases
    pfam00133
    Location:61679
    tRNA-synt_1; tRNA synthetases class I (I, L, M and V)
    pfam13603
    Location:271430
    tRNA-synt_1_2; Leucyl-tRNA synthetase, Domain 2
Support Center