Kars1 lysyl-tRNA synthetase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Kars1provided by MGI
Official Full Name: lysyl-tRNA synthetase 1provided by MGI
Primary source: MGI:MGI:1934754
See related: Ensembl:ENSMUSG00000031948 AllianceGenome:MGI:1934754
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: Kars; LysRS; D8Wsu108e; mKIAA0070; D8Ertd698e
Summary: Enables scaffold protein binding activity. Predicted to be involved in several processes, including ERK1 and ERK2 cascade; diadenosine tetraphosphate biosynthetic process; and lysyl-tRNA aminoacylation. Located in mitochondrion. Part of aminoacyl-tRNA synthetase multienzyme complex. Is expressed in several structures, including alimentary system; central nervous system; cranium; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease recessive intermediate B and autosomal recessive nonsyndromic deafness 89. Orthologous to human KARS1 (lysyl-tRNA synthetase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 43.4), placenta adult (RPKM 35.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 E1; 8 58.27 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (112720071..112737986, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (111993439..112011354, complement)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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?

KARS Mutations Impair Brain Myelination by Inducing Oligodendrocyte Deficiency: One Potential Mechanism and Improvement by Melatonin.
Title: KARS Mutations Impair Brain Myelination by Inducing Oligodendrocyte Deficiency: One Potential Mechanism and Improvement by Melatonin.
KRS in colon cancer cells remodels the microenvironment to promote metastasis, which can thus be therapeutically targeted at these bidirectional KRS-dependent communications of cancer spheroids with environmental cues.
Title: Lysyl-tRNA synthetase-expressing colon spheroids induce M2 macrophage polarization to promote metastasis.
these results indicated that KRS effectively induced the maturation and activation of dendritic cells
Title: Lysyl-Transfer RNA Synthetase Induces the Maturation of Dendritic Cells through MAPK and NF-κB Pathways, Strongly Contributing to Enhanced Th1 Cell Responses.
mitoKARS is the first described member of a group of mitochondrial proteins whose interaction with mutant SOD1 contributes to mitochondrial dysfunction in ALS
Title: Lysyl-tRNA synthetase is a target for mutant SOD1 toxicity in mitochondria.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (4)
Gene trapped (1)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH124206 (e-PCR)
- UniSTS:161028

RH124999 (e-PCR)
- UniSTS:161821

RH125525 (e-PCR)
- UniSTS:162341

RH124244 (e-PCR)
- UniSTS:161066

MDB1088 (e-PCR)
- UniSTS:125046

D8Wsu108e (e-PCR), detects polymorphism
- UniSTS:142729

AU015808 (e-PCR)
- UniSTS:167590

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables ATP:ADP adenylyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATP:ADP adenylyltransferase activity	ISO Inferred from Sequence Orthology more info
enables ATP:ADP adenylyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables amino acid binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables lysine-tRNA ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables lysine-tRNA ligase activity	ISO Inferred from Sequence Orthology more info
enables lysine-tRNA ligase activity	ISS Inferred from Sequence or Structural Similarity more info
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables scaffold protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables tRNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in ERK1 and ERK2 cascade	ISO Inferred from Sequence Orthology more info
involved_in basophil activation involved in immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in basophil activation involved in immune response	ISO Inferred from Sequence Orthology more info
involved_in diadenosine tetraphosphate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in diadenosine tetraphosphate biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in diadenosine tetraphosphate biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in lysyl-tRNA aminoacylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in lysyl-tRNA aminoacylation	ISO Inferred from Sequence Orthology more info
involved_in lysyl-tRNA aminoacylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of inflammatory response to antigenic stimulus	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of macrophage activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of macrophage activation	ISO Inferred from Sequence Orthology more info
involved_in response to X-ray	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of aminoacyl-tRNA synthetase multienzyme complex	IBA Inferred from Biological aspect of Ancestor more info
part_of aminoacyl-tRNA synthetase multienzyme complex	IDA Inferred from Direct Assay more info	PubMed
part_of aminoacyl-tRNA synthetase multienzyme complex	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular space	ISO Inferred from Sequence Orthology 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 nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: lysine--tRNA ligase

NP_001124340.1

EC 6.1.1.6

NP_001273313.1

EC 6.1.1.6

NP_001350358.1

EC 6.1.1.6

NP_001350359.1

EC 6.1.1.6

NP_444322.1

EC 6.1.1.6

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_001130868.2 → NP_001124340.1 lysine--tRNA ligase isoform 1

See identical proteins and their annotated locations for NP_001124340.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 4. Variants 1, 3, 4, and 5 all encode the same isoform (1).

Source sequence(s)

AC114648, AK167693, W77297

Consensus CDS

CCDS52677.1

UniProtKB/TrEMBL

Q8CFK5, Q8R2P8

Related

ENSMUSP00000090808.6, ENSMUST00000093120.13

Conserved Domains (1) summary

PLN02502
Location:42 → 604

PLN02502; lysyl-tRNA synthetase
NM_001286384.1 → NP_001273313.1 lysine--tRNA ligase isoform 1

See identical proteins and their annotated locations for NP_001273313.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 4. Variants 1, 3, 4, and 5 all encode the same isoform (1).

Source sequence(s)

AC114648, AK167693, W77297

Consensus CDS

CCDS52677.1

UniProtKB/TrEMBL

Q8CFK5, Q8R2P8

Related

ENSMUSP00000126268.2, ENSMUST00000164470.3

Conserved Domains (1) summary

PLN02502
Location:42 → 604

PLN02502; lysyl-tRNA synthetase
NM_001363429.1 → NP_001350358.1 lysine--tRNA ligase isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 4. Variants 1, 3, 4, and 5 all encode the same isoform (1).

Source sequence(s)

AC114648

Consensus CDS

CCDS52677.1

UniProtKB/TrEMBL

Q8CFK5, Q8R2P8

Conserved Domains (1) summary

PLN02502
Location:42 → 604

PLN02502; lysyl-tRNA synthetase
NM_001363430.1 → NP_001350359.1 lysine--tRNA ligase isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (4) represents the longest transcript and encodes the longer isoform (1). Variants 1, 3, 4, and 5 all encode the same isoform (1).

Source sequence(s)

AC114648

Consensus CDS

CCDS52677.1

UniProtKB/TrEMBL

Q8CFK5, Q8R2P8

Conserved Domains (1) summary

PLN02502
Location:42 → 604

PLN02502; lysyl-tRNA synthetase
NM_053092.3 → NP_444322.1 lysine--tRNA ligase isoform 2

See identical proteins and their annotated locations for NP_444322.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 4. The resulting isoform (2) is shorter compared to isoform 1.

Source sequence(s)

AC114648, AK167693, W77297

Consensus CDS

CCDS40481.1

UniProtKB/Swiss-Prot

Q99MN1

UniProtKB/TrEMBL

Q3TIV6, Q8C292

Related

ENSMUSP00000034426.7, ENSMUST00000034426.14

Conserved Domains (4) summary

PLN02502
Location:12 → 575

PLN02502; lysyl-tRNA synthetase

cd00775
Location:235 → 573

LysRS_core; Lys_tRNA synthetase (LysRS) class II core domain. Class II LysRS is a dimer which attaches a lysine to the 3' OH group of ribose of the appropriate tRNA. Its assignment to class II aaRS is based upon its structure and the presence of three ...

cd04322
Location:123 → 232

LysRS_N; LysRS_N: N-terminal, anticodon recognition domain of lysyl-tRNA synthetases (LysRS). These enzymes are homodimeric class 2b aminoacyl-tRNA synthetases (aaRSs). This domain is a beta-barrel domain (OB fold) involved in binding the tRNA anticodon stem-loop. ...

pfam08496
Location:14 → 45

Peptidase_S49_N; Peptidase family S49 N-terminal