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Aliases for MARS Gene

Aliases for MARS Gene

  • Methionyl-TRNA Synthetase 2 3 4 5
  • EC 6.1.1.10 4 61
  • METRS 3 4
  • Methionine TRNA Ligase 1, Cytoplasmic 2
  • Methionine--TRNA Ligase, Cytoplasmic 3
  • Cytosolic Methionyl-TRNA Synthetase 3
  • CMT2U 3
  • ILFS2 3
  • MTRNS 3
  • SPG70 3
  • ILLD 3
  • MRS 3

External Ids for MARS Gene

Previous GeneCards Identifiers for MARS Gene

  • GC12M059209
  • GC12P058025
  • GC12P057598
  • GC12P056168
  • GC12P056167
  • GC12P057881
  • GC12P054919

Summaries for MARS Gene

Entrez Gene Summary for MARS 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 MARS Gene

MARS (Methionyl-TRNA Synthetase) is a Protein Coding gene. Diseases associated with MARS include Interstitial Lung And Liver Disease and Charcot-Marie-Tooth Disease, Axonal, Type 2U. Among its related pathways are Metabolism and tRNA Aminoacylation. GO annotations related to this gene include nucleotide binding and aminoacyl-tRNA ligase activity.

Gene Wiki entry for MARS Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MARS Gene

Genomics for MARS Gene

Regulatory Elements for MARS Gene

Enhancers for MARS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F057319 1 Ensembl ENCODE 10.6 -155.7 -155661 1.6 PKNOX1 RNF2 MIER1 ZMYM3 GATA2 ADNP HMBOX1 MLLT1 PRDM1 SP7 ARHGAP9 RNU6-879P INHBE GLI1 MIR616 DDIT3 MBD6 MARS TSFM ENSG00000224713
GH12F057248 0.9 Ensembl ENCODE 9.8 -226.3 -226345 1.4 HDGF RNF2 MTA2 TAL1 ZEB2 DPF2 ZBTB7A ZBTB40 FOXA1 ARID1B ARHGAP9 NXPH4 INHBE MYO1A LRP1 STAT6 MARS ENSG00000224713 STAC3 GC12P057242
GH12F057242 1.3 FANTOM5 Ensembl ENCODE 9.8 -232.3 -232251 2.0 ATF1 PKNOX1 ZNF48 ZNF2 GLIS2 ZNF143 KLF7 ZNF548 SP3 REST NEMP1 ARHGAP9 BAZ2A CTDSP2 NXPH4 RN7SL809P RNU6-343P STAT2 INHBE RBMS2
GH12F057245 0.5 ENCODE 9.8 -230.2 -230213 0.2 PKNOX1 INSM2 KLF17 ZNF2 ZNF391 EGR2 ZNF362 ZNF280D YY2 CEBPB NXPH4 INHBE MYO1A LRP1 STAT6 MARS ARHGAP9 GC12P057242 STAC3
GH12F057237 0.6 ENCODE 9.8 -235.8 -235758 4.4 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZNF143 KLF13 DEK STAT6 NXPH4 ANKRD52 ENSG00000257740 NAB2 INHBE TSPAN31 MYO1A LRP1 ZBTB39
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MARS on UCSC Golden Path with GeneCards custom track

Promoters for MARS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001463920 1655 2201 HDGF TBP TBL1XR1 EGR1 ZNF143 ETV6 ZNF263 ZBTB11 MXD4 ELF1

Genomic Location for MARS Gene

Chromosome:
12
Start:
57,475,445 bp from pter
End:
57,517,569 bp from pter
Size:
42,125 bases
Orientation:
Plus strand

Genomic View for MARS Gene

Genes around MARS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MARS Gene

Proteins for MARS Gene

  • Protein details for MARS 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 MARS Gene

    Size:
    900 amino acids
    Molecular mass:
    101116 Da
    Quaternary structure:
    • Component of the multisynthetase complex which is comprised of a bifunctional glutamyl-prolyl-tRNA synthetase, the monospecific isoleucyl, leucyl, glutaminyl, methionyl, lysyl, arginyl, and aspartyl-tRNA synthetases as well as three auxiliary proteins, p18, p48 and p43.
    • Component of the multisynthetase complex which is comprised of a bifunctional glutamyl-prolyl-tRNA synthetase, the monospecific isoleucyl, leucyl, glutaminyl, methionyl, lysyl, arginyl, and aspartyl-tRNA synthetases as well as three auxiliary proteins, p18, p48 and p43.

    Three dimensional structures from OCA and Proteopedia for MARS Gene

    Alternative splice isoforms for MARS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MARS Gene

Post-translational modifications for MARS Gene

  • Ubiquitination at Lys 191, Lys 375, Lys 500, Lys 663, and Lys 726
  • Modification sites at PhosphoSitePlus

Domains & Families for MARS Gene

Gene Families for MARS Gene

Graphical View of Domain Structure for InterPro Entry

P56192

UniProtKB/Swiss-Prot:

SYMC_HUMAN :
  • Contains 1 GST C-terminal domain.
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
Domain:
  • Contains 1 GST C-terminal domain.
  • Contains 1 WHEP-TRS domain.
Family:
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with MARS: view

Function for MARS Gene

Molecular function for MARS Gene

GENATLAS Biochemistry:
methionine tRNA synthetase
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-methionine + tRNA(Met) = AMP + diphosphate + L-methionyl-tRNA(Met).

Enzyme Numbers (IUBMB) for MARS Gene

Gene Ontology (GO) - Molecular Function for MARS 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 MARS: view
genes like me logo Genes that share phenotypes with MARS: view

Human Phenotype Ontology for MARS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for MARS

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MARS

Flow Cytometry Products

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

Localization for MARS Gene

Subcellular locations from UniProtKB/Swiss-Prot for MARS Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MARS Gene COMPARTMENTS Subcellular localization image for MARS gene
Compartment Confidence
cytosol 5
extracellular 5
mitochondrion 3
peroxisome 2
endoplasmic reticulum 1
golgi apparatus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with MARS: view

Pathways & Interactions for MARS Gene

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

Pathways by source for MARS Gene

SIGNOR curated interactions for MARS Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for MARS 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 --
genes like me logo Genes that share ontologies with MARS: view

Drugs & Compounds for MARS Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Methionine Approved Nutra Enzyme, substrate 0
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Liver Extracts Pharma 3868

(11) Additional Compounds for MARS Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
selenomethionine
  • (+-)-Selenomethionine
  • (2S)-2-amino-4-(methylseleno)butanoate
  • (2S)-2-amino-4-(methylseleno)butanoic acid
  • (S)-2-amino-4-(methylseleno)-Butanoate
  • (S)-2-amino-4-(methylseleno)-Butanoic acid
3211-76-5
genes like me logo Genes that share compounds with MARS: view

Transcripts for MARS Gene

Unigene Clusters for MARS Gene

Methionyl-tRNA synthetase:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MARS

Flow Cytometry Products

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

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c ^ 13 ^ 14a ·
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: - - - - - - - - - -
SP9: - - -
SP10:
SP11:
SP12: - - - - - - - - - - -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

ExUns: 14b ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b · 21c ^ 22a · 22b ^ 23 ^ 24a · 24b ^ 25a · 25b
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10: - - - - -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

Relevant External Links for MARS Gene

GeneLoc Exon Structure for
MARS
ECgene alternative splicing isoforms for
MARS

Expression for MARS Gene

mRNA expression in normal human tissues for MARS Gene

Protein differential expression in normal tissues from HIPED for MARS Gene

This gene is overexpressed in Bone (10.2) and Lymph node (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MARS Gene



Protein tissue co-expression partners for MARS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MARS Gene:

MARS

SOURCE GeneReport for Unigene cluster for MARS Gene:

Hs.632707
genes like me logo Genes that share expression patterns with MARS: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MARS Gene

Orthologs for MARS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MARS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MARS 34 35
  • 99.7 (n)
cow
(Bos Taurus)
Mammalia MARS 34 35
  • 90.09 (n)
dog
(Canis familiaris)
Mammalia MARS 34 35
  • 89.98 (n)
rat
(Rattus norvegicus)
Mammalia Mars 34
  • 87.26 (n)
mouse
(Mus musculus)
Mammalia Mars 34 16 35
  • 86.89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MARS 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves MARS 34 35
  • 66.89 (n)
lizard
(Anolis carolinensis)
Reptilia MARS 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mars 34
  • 66.63 (n)
Str.16107 34
African clawed frog
(Xenopus laevis)
Amphibia MGC69150 34
zebrafish
(Danio rerio)
Actinopterygii mars 34 35
  • 63.66 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007891 34
  • 55.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15100 34 35
  • 54.76 (n)
worm
(Caenorhabditis elegans)
Secernentea mrs-1 36
  • 60 (a)
mars-1 35
  • 40 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR332C 34
  • 55.44 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MES1 34 35 37
  • 53.97 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A09647g 34
  • 52.25 (n)
rice
(Oryza sativa)
Liliopsida Os10g0400100 34
  • 58.23 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.795 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2777 35
  • 65 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU07451 34
  • 54.52 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rar1 34
  • 54.11 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.55 34
Species where no ortholog for MARS 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 MARS Gene

ENSEMBL:
Gene Tree for MARS (if available)
TreeFam:
Gene Tree for MARS (if available)

Paralogs for MARS Gene

No data available for Paralogs for MARS Gene

Variants for MARS Gene

Sequence variations from dbSNP and Humsavar for MARS Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs140467171 Interstitial lung and liver disease (ILLD) [MIM:615486], Pathogenic 57,500,337(+) ACATT(C/T)TCCAG nc-transcript-variant, reference, missense
rs141340466 Interstitial lung and liver disease (ILLD) [MIM:615486], Pathogenic 57,500,406(+) ACTGT(A/G)CTCGC nc-transcript-variant, reference, missense
rs143592405 Interstitial lung and liver disease (ILLD) [MIM:615486], Pathogenic 57,512,300(+) TTGCT(C/T)AGCCC intron-variant, upstream-variant-2KB, reference, missense
rs201555303 Interstitial lung and liver disease (ILLD) [MIM:615486], Pathogenic 57,512,036(+) CACTA(C/T)TGGCT nc-transcript-variant, upstream-variant-2KB, reference, missense
rs587777718 Charcot-Marie-Tooth disease 2U (CMT2U) [MIM:616280], Pathogenic 57,512,849(+) TCTGG(C/T)GCTTC nc-transcript-variant, downstream-variant-500B, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MARS 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 MARS 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)

Relevant External Links for MARS Gene

Human Gene Mutation Database (HGMD)
MARS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MARS

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

Disorders for MARS Gene

MalaCards: The human disease database

(11) MalaCards diseases for MARS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

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

UniProtKB/Swiss-Prot

SYMC_HUMAN
  • 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 mutations affecting the gene represented in this entry.
  • 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 mutations affecting the gene represented in this entry.

Relevant External Links for MARS

Genetic Association Database (GAD)
MARS
Human Genome Epidemiology (HuGE) Navigator
MARS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MARS
genes like me logo Genes that share disorders with MARS: view

No data available for Genatlas for MARS Gene

Publications for MARS Gene

  1. CHOP/GADD153 and methionyl-tRNA synthetase (MetRS) genes overlap in a conserved region that controls mRNA stability. (PMID: 10448063) Ubeda M. … Habener J.F. (Biochem. Biophys. Res. Commun. 1999) 2 3 22 64
  2. Cloning of a human cDNA encoding a protein with high homology to yeast methionyl-tRNA synthetase. (PMID: 8921912) Lage H. … Dietel M. (Gene 1996) 3 4 22 64
  3. Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on RAcunion Island. (PMID: 25913036) Hadchouel A. … Strom T.M. (Am. J. Hum. Genet. 2015) 3 4 64
  4. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PMID: 24482476) Novarino G. … Gleeson J.G. (Science 2014) 2 3 64
  5. Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype. (PMID: 24103465) van Meel E. … Cole F.S. (BMC Med. Genet. 2013) 3 4 64

Products for MARS Gene

Sources for MARS Gene

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