MARS1 methionyl-tRNA synthetase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MARS1provided by HGNC
Official Full Name: methionyl-tRNA synthetase 1provided by HGNC
Primary source: HGNC:HGNC:6898
See related: Ensembl:ENSG00000166986 MIM:156560; AllianceGenome:HGNC:6898
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: MRS; ILLD; MARS; TTD9; CMT2U; ILFS2; METRS; MTRNS; SPG70
Summary: This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. The encoded protein is a component of the multi-tRNA synthetase complex and catalyzes the ligation of methionine to tRNA molecules. [provided by RefSeq, Jan 2011]
Expression: Ubiquitous expression in testis (RPKM 31.8), appendix (RPKM 28.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.3

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (57488068..57516652)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (57456360..57484880)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (57881851..57910435)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
Title: Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature.
Title: Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature.
Structural basis for the dynamics of human methionyl-tRNA synthetase in multi-tRNA synthetase complexes.
Title: Structural basis for the dynamics of human methionyl-tRNA synthetase in multi-tRNA synthetase complexes.
MRS/CD45 dual IF staining showed good diagnostic performance and may be a good tool complementing conventional cytology test for determining lymph node metastasis of non-small cell lung cancer.
Title: Methionyl-tRNA Synthetase is a Useful Diagnostic Marker for Lymph Node Metastasis in Non-Small Cell Lung Cancer.
The results establish that the pulmonary alveolar proteinosis-related substitutions in MARS impact the tRNAMet-aminoacylation reaction especially at the level of methionine recognition.
Title: Mutations in MARS identified in a specific type of pulmonary alveolar proteinosis alter methionyl-tRNA synthetase activity.
Compound Arg618Cys and Tyr307Cys variants were identified in an infant with syndromic interstitial lung and liver disease. Arg618Cys associated with Charcot-Marie-Tooth disease was inherited from an unaffected father.
Title: MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease.
MRS is frequently overexpressed in NSCLC. Moreover, MRS is related to mTORC1 activity and its overexpression is associated with poor clinical outcomes, indicating that it has potential as a putative therapeutic target.
Title: Methionyl-tRNA synthetase overexpression is associated with poor clinical outcomes in non-small cell lung cancer.
Genotype-phenotype correlation analysis suggests most of the interstitial lung and liver disease (ILLD), mutations locate in the catalytic domain of MARS. ILLD and Charcot-Marie-Tooth disease, axonal, type 2U might have different disease mechanism.
Title: Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia.
analysis of the heterotetrameric complex structure of the glutathione transferase (GST) domains shared among the four MSC components, methionyl-tRNA synthetase (MRS), glutaminyl-prolyl-tRNA synthetase (EPRS), AIMP2 and AIMP3
Title: Assembly of Multi-tRNA Synthetase Complex via Heterotetrameric Glutathione Transferase-homology Domains.
identification of a founder mutation in MARS led to the molecular definition of a specific type of pulmonary alveolar proteinosis and will enable carrier screening in the affected community and possibly open new treatment opportunities.
Title: Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Charcot-Marie-Tooth disease axonal type 2U MedGen: C4084821 OMIM: 616280 GeneReviews: Not available	Compare labs
Charcot-Marie-Tooth disease type 2 MedGen: C0270914 GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview	Compare labs
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency MedGen: C4225400 OMIM: 615486 GeneReviews: Not available	Compare labs
Spastic paraplegia 70, autosomal recessive MedGen: CN327016 OMIM: 620323 GeneReviews: Not available	not available
Trichothiodystrophy 9, nonphotosensitive MedGen: C5562058 OMIM: 619692 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of methionyl-tRNA synthetase (MARS) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	Interaction of HIV-1 Gag with methionyl-tRNA synthetase (MARS) is identified in a series of six affinity purification/mass spectrometry screens	PubMed
matrix	gag	HIV-1 MA is identified to have a physical interaction with methionyl-tRNA synthetase (MARS) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12S1943 (e-PCR)
- UniSTS:7319

RH17412 (e-PCR)
- UniSTS:9638

PMC166200P1 (e-PCR)
- UniSTS:271573

PMC150726P8 (e-PCR)
- UniSTS:271080

RH17902 (e-PCR)
- UniSTS:68333

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables methionine-tRNA ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables methionine-tRNA ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables methionine-tRNA ligase activity	TAS Traceable Author Statement more info
enables tRNA binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cellular response to epidermal growth factor stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to platelet-derived growth factor stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in methionyl-tRNA aminoacylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in methionyl-tRNA aminoacylation	IDA Inferred from Direct Assay more info	PubMed
involved_in methionyl-tRNA aminoacylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in rRNA transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tRNA aminoacylation for protein translation	TAS Traceable Author Statement 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
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: methionine--tRNA ligase, cytoplasmic

Names: cytosolic methionyl-tRNA synthetase

NP_004981.2

EC 6.1.1.10

XP_047284807.1

EC 6.1.1.10

XP_047284808.1

EC 6.1.1.10

XP_054228032.1

EC 6.1.1.10

XP_054228033.1

EC 6.1.1.10

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

NG_034077.1 RefSeqGene

Range

5116..33700

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004990.4 → NP_004981.2 methionine--tRNA ligase, cytoplasmic

See identical proteins and their annotated locations for NP_004981.2

Status: REVIEWED

Source sequence(s)

BC011849, D84224

Consensus CDS

CCDS8942.1

UniProtKB/Swiss-Prot

B3KVK7, P56192, Q14895, Q53H14, Q96A15, Q96BZ0, Q9NSE0

UniProtKB/TrEMBL

A8K492

Related

ENSP00000262027.5, ENST00000262027.10

Conserved Domains (7) summary

cd07957
Location:642 → 771

Anticodon_Ia_Met; Anticodon-binding domain of methionyl tRNA synthetases

cd00814
Location:265 → 633

MetRS_core; catalytic core domain of methioninyl-tRNA synthetases

cd10307
Location:77 → 179

GST_C_MetRS_N; Glutathione S-transferase C-terminal-like, alpha helical domain of Methionyl-tRNA synthetase from higher eukaryotes

COG0625
Location:47 → 189

GstA; Glutathione S-transferase [Posttranslational modification, protein turnover, chaperones]

PRK12268
Location:264 → 819

PRK12268; methionyl-tRNA synthetase; Reviewed

cd00939
Location:845 → 889

MetRS_RNA; MetRS_RNA binding domain. This short RNA-binding domain is found at the C-terminus of MetRS in several higher eukaryote aminoacyl-tRNA synthetases (aaRSs). It is repeated in Drosophila MetRS. This domain consists of a helix-turn-helix structure, which is ...

cl00388
Location:27 → 68

Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold