MARS1 Gene (Protein Coding)

Methionyl-TRNA Synthetase 1

GC12P057476
GIFtS:
36
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] See more...

Aliases for MARS1 Gene

Aliases for MARS1 Gene

  • Methionyl-TRNA Synthetase 1 2 3 5
  • Methionine--TRNA Ligase, Cytoplasmic 3 4
  • Methionyl-TRNA Synthetase 2 4
  • EC 6.1.1.10 4 50
  • CMT2U 2 3
  • SPG70 2 3
  • MetRS 2 4
  • MARS 3 4
  • Methionine TRNA Ligase 1, Cytoplasmic 2
  • Cytosolic Methionyl-TRNA Synthetase 3
  • ILFS2 3
  • METRS 3
  • MTRNS 3
  • MARS1 5
  • ILLD 3
  • MRS 3

External Ids for MARS1 Gene

Previous HGNC Symbols for MARS1 Gene

  • MARS

Summaries for MARS1 Gene

Entrez Gene Summary for MARS1 Gene

  • 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]

GeneCards Summary for MARS1 Gene

MARS1 (Methionyl-TRNA Synthetase 1) is a Protein Coding gene. Diseases associated with MARS1 include Interstitial Lung And Liver Disease and Charcot-Marie-Tooth Disease, Axonal, Type 2U. Among its related pathways are One carbon pool by folate and Viral mRNA Translation. An important paralog of this gene is VARS1.

UniProtKB/Swiss-Prot Summary for MARS1 Gene

  • Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA (PubMed:11714285). Plays a role in the synthesis of ribosomal RNA in the nucleolus (PubMed:10791971).

Gene Wiki entry for MARS1 Gene

Additional gene information for MARS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MARS1 Gene

Genomics for MARS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MARS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MARS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MARS1

Genomic Locations for MARS1 Gene

Latest Assembly
chr12:57,475,445-57,517,569
(GRCh38/hg38)
Size:
42,125 bases
Orientation:
Plus strand

Previous Assembly
chr12:57,881,851-57,910,435
(GRCh37/hg19 by Entrez Gene)
Size:
28,585 bases
Orientation:
Plus strand

chr12:57,869,228-57,911,352
(GRCh37/hg19 by Ensembl)
Size:
42,125 bases
Orientation:
Plus strand

Genomic View for MARS1 Gene

Genes around MARS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MARS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MARS1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MARS1 Gene

Proteins for MARS1 Gene

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  1. Antibodies for research
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  3. Assay products for research

  • Protein details for MARS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56192-SYMC_HUMAN
    Recommended name:
    Methionine--tRNA ligase, cytoplasmic
    Protein Accession:
    P56192
    Secondary Accessions:
    • B3KVK7
    • Q14895
    • Q53H14
    • Q96A15
    • Q96BZ0
    • Q9NSE0

    Protein attributes for MARS1 Gene

    Size:
    900 amino acids
    Molecular mass:
    101116 Da
    Quaternary structure:
    • Monomer (PubMed:11714285). Part of a multisubunit complex that groups tRNA ligases for Arg (RARS1), Asp (DARS1), Gln (QARS1), Ile (IARS1), Leu (LARS1), Lys (KARS1), Met (MARS1) the bifunctional ligase for Glu and Pro (EPRS1) and the auxiliary subunits AIMP1/p43, AIMP2/p38 and EEF1E1/p18 (PubMed:19131329, PubMed:19289464, Ref.24, PubMed:26472928). Forms a linear complex that contains MARS1, EEF1E1, EPRS1 and AIMP2 that is at the core of the multisubunit complex (PubMed:26472928).

    Three dimensional structures from OCA and Proteopedia for MARS1 Gene

    Alternative splice isoforms for MARS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MARS1 Gene

Selected DME Specific Peptides for MARS1 Gene

P56192:
  • NQWLEWEA
  • ITRDLKWG
  • CGKLINA
  • ARGDQCD
  • LLEKVRIRDALR
  • ISRHGNQYIQVNEPWK
  • RPEGQDSAFSW
  • TEYLNYEDGKFSKS
  • FDIFGRTT
  • LSADVFAR
  • EICDKYH
  • KVFYVWFDA
  • ALPYVNN
  • LITSALPY
  • KDNVPFH
  • GKFSKSRGVGVFG
  • SITANYTD

Post-translational modifications for MARS1 Gene

  • Ubiquitination at Lys191, Lys375, Lys500, Lys663, and Lys726
  • Modification sites at PhosphoSitePlus

Other Protein References for MARS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MARS1 Gene

Gene Families for MARS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MARS1 Gene

InterPro:
Blocks:
  • Aminoacyl-tRNA synthetase, class Ia
  • Methionyl-tRNA synthetase signature

Suggested Antigen Peptide Sequences for MARS1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ16674 fis, clone THYMU3008136, highly similar to Methionyl-tRNA synthetase (EC 6.1.1.10) (B3KVK7_HUMAN)
  • Methionine--tRNA ligase (SYMC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P56192

UniProtKB/Swiss-Prot:

SYMC_HUMAN :
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
Family:
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with MARS1: view

Function for MARS1 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for MARS1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA (PubMed:11714285). Plays a role in the synthesis of ribosomal RNA in the nucleolus (PubMed:10791971).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-methionine + tRNA(Met) = AMP + diphosphate + L-methionyl-tRNA(Met); Xref=Rhea:RHEA:13481, Rhea:RHEA-COMP:9667, Rhea:RHEA-COMP:9698, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57844, ChEBI:CHEBI:78442, ChEBI:CHEBI:78530, ChEBI:CHEBI:456215; EC=6.1.1.10; Evidence={ECO:0000269|PubMed:11714285};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Enzyme activity is increased by spermidine, EEF1A1, and when the Mg(2+) concentration is increased from 5 mM to 13 mM (in vitro), possibly by promoting the dissociation of the complex between the enzyme and its product.

Enzyme Numbers (IUBMB) for MARS1 Gene

Phenotypes From GWAS Catalog for MARS1 Gene

Gene Ontology (GO) - Molecular Function for MARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IEA --
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004825 methionine-tRNA ligase activity IEA,TAS --
genes like me logo Genes that share ontologies with MARS1: view
genes like me logo Genes that share phenotypes with MARS1: view

Human Phenotype Ontology for MARS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

  • Taconic Biosciences Mouse Models for MARS1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MARS1

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for MARS1 Gene

Localization for MARS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MARS1 Gene

Cytoplasm, cytosol. Nucleus, nucleolus. Note=Localizes to the nucleolus in proliferative cells but disappears in quiescent cells. {ECO:0000269 PubMed:10791971}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MARS1 gene
Compartment Confidence
cytosol 5
extracellular 4
nucleus 4
plasma membrane 2
mitochondrion 2
peroxisome 2
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IDA 10791971
GO:0005737 cytoplasm IDA 10791971
GO:0005829 cytosol TAS --
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with MARS1: view

Pathways & Interactions for MARS1 Gene

genes like me logo Genes that share pathways with MARS1: view

Pathways by source for MARS1 Gene

1 GeneGo (Thomson Reuters) pathway for MARS1 Gene
  • Methionine metabolism

SIGNOR curated interactions for MARS1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for MARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation IEA,TAS --
GO:0006431 methionyl-tRNA aminoacylation IEA,IDA 11714285
GO:0009267 cellular response to starvation IDA 10791971
GO:0009303 rRNA transcription IMP 10791971
genes like me logo Genes that share ontologies with MARS1: view

Drugs & Compounds for MARS1 Gene

Products:

  1. Drug products for research

(10) Drugs for MARS1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methionine Approved Nutra Enzyme, substrate 125
Selenomethionine Approved, Investigational Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(8) Additional Compounds for MARS1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
 14000-31-8
genes like me logo Genes that share compounds with MARS1: view

Transcripts for MARS1 Gene

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  3. Inhibitory RNAs for research
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mRNA/cDNA for MARS1 Gene

1 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
35 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MARS1

Alternative Splicing Database (ASD) splice patterns (SP) for MARS1 Gene

No ASD Table

Relevant External Links for MARS1 Gene

GeneLoc Exon Structure for
MARS1

Expression for MARS1 Gene

Products:

  1. Primer products for research

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MARS1

SOURCE GeneReport for Unigene cluster for MARS1 Gene:

Hs.632707

Evidence on tissue expression from TISSUES for MARS1 Gene

  • Nervous system(5)
  • Muscle(4.9)
  • Intestine(4.8)
  • Liver(4.6)
  • Blood(4.5)
  • Lung(3.9)
  • Skin(3.5)
  • Kidney(2.9)
  • Eye(2.6)
  • Heart(2.4)
  • Stomach(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MARS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • epiglottis
  • head
  • larynx
  • neck
Thorax:
  • lung
Abdomen:
  • liver
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • shin
  • toe
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
No Expression Related Data Available

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for MARS1 Gene

Orthologs for MARS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MARS1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MARS 29 30
  • 99.7 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MARS 29 30
  • 90.09 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MARS 29 30
  • 89.98 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Mars 29
  • 87.26 (n)
Mouse
(Mus musculus)
 Mammalia Mars 29 30
  • 86.89 (n)
 OneToOne
Mars1 16
Platypus
(Ornithorhynchus anatinus)
 Mammalia MARS 30
  • 77 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves MARS 29 30
  • 66.89 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia MARS 30
  • 68 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia mars 29
  • 66.63 (n)
Str.16107 29
African clawed frog
(Xenopus laevis)
 Amphibia MGC69150 29
Zebrafish
(Danio rerio)
 Actinopterygii mars 29 30
  • 63.66 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP007891 29
  • 55.04 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG15100 29 30
  • 54.76 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea mars-1 30
  • 40 (a)
 OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AGR332C 29
  • 55.44 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes MES1 29 30 32
  • 53.97 (n)
 OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0A09647g 29
  • 52.25 (n)
Rice
(Oryza sativa)
 Liliopsida Os10g0400100 29
  • 58.23 (n)
Barley
(Hordeum vulgare)
 Liliopsida Hv.795 29
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.2777 30
  • 65 (a)
 OneToOne
Bread mold
(Neurospora crassa)
 Ascomycetes NCU07451 29
  • 54.52 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes rar1 29
  • 54.11 (n)
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.55 29
Species where no ortholog for MARS1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MARS1 Gene

ENSEMBL:
Gene Tree for MARS1 (if available)
TreeFam:
Gene Tree for MARS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MARS1: view image
Alliance of Genome Resources:
Additional Orthologs for MARS1

Paralogs for MARS1 Gene

Paralogs for MARS1 Gene

genes like me logo Genes that share paralogs with MARS1: view

Variants for MARS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MARS1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
1001765 Uncertain Significance: Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u 57,504,249(+) T/G
NM_004990.4(MARS1):c.1318T>G (p.Ser440Ala) 		MISSENSE
1009808 Uncertain Significance: Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u 57,490,625(+) C/T
NM_004990.4(MARS1):c.751C>T (p.Arg251Trp) 		MISSENSE
1012822 Likely Benign: not provided 57,489,056(+) T/C
NM_004990.4(MARS1):c.147T>C (p.Pro49=) 		SYNONYMOUS
1019872 Uncertain Significance: Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u 57,515,329(+) T/C
NM_004990.4(MARS1):c.2384T>C (p.Ile795Thr) 		MISSENSE
1023524 Uncertain Significance: Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u 57,511,842(+) G/GT
NM_004990.4(MARS1):c.1514dup (p.Pro506fs) 		FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MARS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MARS1 Gene

Variant ID Type Subtype PubMed ID
dgv2651n54 CNV loss 21841781
esv1408918 CNV insertion 17803354
esv2759901 CNV gain 17122850
esv3419248 CNV duplication 20981092
nsv1071035 CNV deletion 25765185
nsv1144629 CNV deletion 24896259
nsv428283 CNV gain 18775914
nsv469411 CNV loss 19166990
nsv482992 CNV gain+loss 15286789
nsv559034 CNV loss 21841781
nsv819781 CNV loss 19587683

Variation tolerance for MARS1 Gene

Residual Variation Intolerance Score: 29.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.25; 40.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MARS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MARS1
Leiden Open Variation Database (LOVD)
MARS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MARS1 Gene

Disorders for MARS1 Gene

MalaCards: The human disease database

(22) MalaCards diseases for MARS1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search MARS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYMC_HUMAN
  • Interstitial lung and liver disease (ILLD) [MIM:615486]: An autosomal recessive, life-threatening disorder characterized by respiratory insufficiency and progressive liver disease with onset in infancy or early childhood. Clinical features include failure to thrive, hypotonia, intermittent lactic acidosis, aminoaciduria, hypothyroidism, interstitial lung disease, pulmonary alveolar proteinosis, anemia, and liver canalicular cholestasis, steatosis, and iron deposition. {ECO:0000269 PubMed:24103465, ECO:0000269 PubMed:25913036}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 2U (CMT2U) [MIM:616280]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2U is a slowly progressive, autosomal dominant form characterized by late-adult onset. {ECO:0000269 PubMed:23729695, ECO:0000269 PubMed:24354524}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for MARS1

Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MARS1: view

No data available for Genatlas for MARS1 Gene

Publications for MARS1 Gene

  1. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PMID: 24482476) Novarino G … Gleeson JG (Science (New York, N.Y.) 2014) 2 3 4 72
  2. Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island. (PMID: 25913036) Hadchouel A … Strom TM (American journal of human genetics 2015) 3 4 72
  3. Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. (PMID: 23729695) Gonzalez M … Inherited Neuropathy Consortium (Journal of neurology, neurosurgery, and psychiatry 2013) 3 4 72
  4. Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype. (PMID: 24103465) van Meel E … Cole FS (BMC medical genetics 2013) 3 4 72
  5. Dissection of the structural organization of the aminoacyl-tRNA synthetase complex. (PMID: 19131329) Kaminska M … Mirande M (The Journal of biological chemistry 2009) 3 4 22

ExternalLinks

View latest publications for MARS1 gene in Mastermind

Products for MARS1 Gene

  • Addgene plasmids for MARS1

Sources for MARS1 Gene