Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dars2provided by MGI
Official Full Name: aspartyl-tRNA synthetase 2 (mitochondrial)provided by MGI
Primary source: MGI:MGI:2442510
See related: Ensembl:ENSMUSG00000026709 AllianceGenome:MGI:2442510
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: aspRS; 5830468K18Rik
Summary: Predicted to enable aspartate-tRNA ligase activity; aspartate-tRNA(Asn) ligase activity; and protein homodimerization activity. Predicted to be involved in aspartyl-tRNA aminoacylation and mitochondrial asparaginyl-tRNA aminoacylation. Located in mitochondrion. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; midbrain; and telencephalon. Orthologous to human DARS2 (aspartyl-tRNA synthetase 2, mitochondrial). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in liver E14 (RPKM 5.9), CNS E11.5 (RPKM 5.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 H2.1; 1 69.75 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (160868171..160898236, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (161037580..161070668, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DARS2 is indispensable for Purkinje cell survival and protects against cerebellar ataxia.
Title: DARS2 is indispensable for Purkinje cell survival and protects against cerebellar ataxia.
Neuronal ablation of mt-AspRS in mice induces immune pathway activation prior to severe and progressive cortical and behavioral disruption.
Title: Neuronal ablation of mt-AspRS in mice induces immune pathway activation prior to severe and progressive cortical and behavioral disruption.
Results now provide the first evidence that loss of DARS2 in neurons leads to strong mitochondrial dysfunction and progressive loss of cells.
Title: DARS2 protects against neuroinflammation and apoptotic neuronal loss, but is dispensable for myelin producing cells.
DARS2 depletion in heart and skeletal muscle leads to the severe deregulation of mitochondrial protein synthesis followed by a strong respiratory chain deficit in both tissues.
Title: Tissue-specific loss of DARS2 activates stress responses independently of respiratory chain deficiency in the heart.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables aspartate-tRNA ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables aspartate-tRNA ligase activity	ISO Inferred from Sequence Orthology more info
enables aspartate-tRNA ligase activity	ISS Inferred from Sequence or Structural Similarity more info
enables aspartate-tRNA(Asn) ligase activity	IEA Inferred from Electronic Annotation more info
enables aspartate-tRNA(Asn) ligase activity	ISO Inferred from Sequence Orthology more info
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in aspartyl-tRNA aminoacylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial asparaginyl-tRNA aminoacylation	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial asparaginyl-tRNA aminoacylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in tRNA aminoacylation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in mitochondrial matrix	ISO Inferred from Sequence Orthology more info
located_in mitochondrial matrix	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: aspartate--tRNA ligase, mitochondrial

NP_766232.1

EC 6.1.1.12

XP_006496820.1

EC 6.1.1.12

XP_006496821.1

EC 6.1.1.12

XP_036019957.1

EC 6.1.1.12

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.

mRNA and Protein(s)

NM_172644.4 → NP_766232.1 aspartate--tRNA ligase, mitochondrial precursor

See identical proteins and their annotated locations for NP_766232.1

Status: VALIDATED

Source sequence(s)

AK030952, AK138809, BY781897

Consensus CDS

CCDS15413.1

UniProtKB/Swiss-Prot

Q5FWV4, Q8BIP0

Related

ENSMUSP00000041851.4, ENSMUST00000035430.4

Conserved Domains (4) summary

PRK00476
Location:49 → 636

aspS; aspartyl-tRNA synthetase; Validated

cd00777
Location:186 → 606

AspRS_core; Asp tRNA synthetase (aspRS) class II core domain. Class II assignment is based upon its structure and the presence of three characteristic sequence motifs. AspRS is a homodimer, which attaches a specific amino acid to the 3' OH group of ribose of the ...

cd04317
Location:49 → 182

EcAspRS_like_N; EcAspRS_like_N: N-terminal, anticodon recognition domain of the type found in Escherichia coli aspartyl-tRNA synthetase (AspRS), the human mitochondrial (mt) AspRS-2, the discriminating (D) Thermus thermophilus AspRS-1, and the nondiscriminating (ND) ...

pfam02938
Location:360 → 451

GAD; GAD domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

160868171..160898236 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006496757.3 → XP_006496820.1 aspartate--tRNA ligase, mitochondrial isoform X1

Conserved Domains (1) summary

PRK00476
Location:49 → 615

aspS; aspartyl-tRNA synthetase; Validated
XM_036164064.1 → XP_036019957.1 aspartate--tRNA ligase, mitochondrial isoform X3

Conserved Domains (1) summary

PRK00476
Location:1 → 483

aspS; aspartyl-tRNA synthetase; Validated
XM_006496758.4 → XP_006496821.1 aspartate--tRNA ligase, mitochondrial isoform X2

Conserved Domains (1) summary

PRK00476
Location:1 → 504

aspS; aspartyl-tRNA synthetase; Validated