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DARS2 aspartyl-tRNA synthetase 2, mitochondrial [ Homo sapiens (human) ]

Gene ID: 55157, updated on 12-Sep-2021

Summary

Official Symbol
DARS2provided by HGNC
Official Full Name
aspartyl-tRNA synthetase 2, mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:25538
See related
Ensembl:ENSG00000117593 MIM:610956
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
LBSL; ASPRS; mtAspRS; MT-ASPRS
Summary
The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). [provided by RefSeq, Nov 2009]
Expression
Ubiquitous expression in kidney (RPKM 7.7), colon (RPKM 6.8) and 25 other tissues See more
Orthologs
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Genomic context

See DARS2 in Genome Data Viewer
Location:
1q25.1
Exon count:
18
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (173824673..173858546)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (173793811..173827684)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene kelch like family member 20 Neighboring gene ribosomal protein S27 pseudogene 7 Neighboring gene RN7SK pseudogene 160 Neighboring gene centromere protein L Neighboring gene GAS5 antisense RNA 1 Neighboring gene small nucleolar RNA, C/D box 81 Neighboring gene growth arrest specific 5

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10514

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding TAS
Traceable Author Statement
more info
PubMed 
enables aspartate-tRNA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables aspartate-tRNA ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables aspartate-tRNA(Asn) ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
enables tRNA binding TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 
located_in mitochondrion TAS
Traceable Author Statement
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
aspartate--tRNA ligase, mitochondrial
Names
aspartate tRNA ligase 2, mitochondrial
aspartyl-tRNA synthetase, mitochondrial
NP_001352141.1
NP_001352142.1
NP_060592.2

NCBI Reference Sequences (RefSeq)

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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_016138.1 RefSeqGene

    Range
    5015..38888
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1270

mRNA and Protein(s)

  1. NM_001365212.1NP_001352141.1  aspartate--tRNA ligase, mitochondrial isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL109921
    Related
    ENSP00000497472.1, ENST00000648807.1
    Conserved Domains (1) summary
    PRK00476
    Location:50585
    aspS; aspartyl-tRNA synthetase; Validated
  2. NM_001365213.2NP_001352142.1  aspartate--tRNA ligase, mitochondrial isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL109921
    Related
    ENSP00000497874.1, ENST00000648458.1
    Conserved Domains (1) summary
    cl27743
    Location:50458
    tRNA-synt_2; tRNA synthetases class II (D, K and N)
  3. NM_018122.5NP_060592.2  aspartate--tRNA ligase, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_060592.2

    Status: REVIEWED

    Source sequence(s)
    AK022754, AL109921, AL519850, BC045173
    Consensus CDS
    CCDS1311.1
    UniProtKB/Swiss-Prot
    Q6PI48
    UniProtKB/TrEMBL
    A0A024R8Z9, Q9H9J7
    Related
    ENSP00000497569.1, ENST00000649689.2
    Conserved Domains (1) summary
    PRK00476
    Location:50636
    aspS; aspartyl-tRNA synthetase; Validated

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    173824673..173858546
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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