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FLASH GENE
Symbol MARS contributors: mct - updated : 19-05-2015
HGNC name methionine-tRNA synthetase
HGNC id 6898
Corresponding disease
CMT2U Charcot-Marie-Tooth disease, axonal, type 2U
PALVP pulmonary alveolar proteinosis
Location 12q13.3      Physical location : 57.881.850 - 57.910.432
Synonym name methionine tRNA ligase
Synonym symbol(s) METRS, MTRNS, CMT2U, ILFS2, MRS, SPG70
EC.number 6.1.1.10
DNA
TYPE functioning gene
STRUCTURE 28.70 kb     21 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
NAB2 12q13.3-q14.1 NGFI-A binding protein 2 (EGR1 binding protein 2) STAT6 12q13.3-q14.1 signal transducer and activator of transcription 6, interleukin-4 induced LRP1 12q13.3 low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor) SHMT2 12q13.2 serine hydroxymethyltransferase 2 (mitochondrial) NXPH4 12q13.2 neurexophilin 4 LOC56901 12q13.2 NADH:ubiquinone oxidoreductase MLRQ subunit homolog MGC2793 12q13.2 hypothetical protein MGC2793 KIAA1002 12q13.2 Homo sapiens KIAA1002 protein (KIAA1002), mRNA. LOC338803 12q13.2 similar to RIKEN cDNA 1300003K24 INHBC 12q13.1 inhibin, beta C INHBE 12q13.2 inhibin, beta E GLI 12q13.3-q14.1 glioma-associated oncogene homolog (zinc finger protein) ARHGAP9 12q14 Rho GTPase activating protein 9 MARS 12q13.11-q14.3 methionine-tRNA synthetase DDIT3 12q13.1-q13.2 DNA-damage-inducible transcript 3 MBD6 12q13.2 methyl-CpG binding domain protein 6 DCTN2 12q13.2-q13.3 dynactin 2 (p50) KIF5A 12q13 kinesin family member 5A PIP5K2C 12q13.2 phosphatidylinositol-4-phosphate 5-kinase, type II, gamma FLJ34766 GEFT 12q13.2 RAC/CDC42 exchange factor SLC26A10 12q13 solute carrier family 26, member 10 GALGT 12q13.3 UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T) LOC390333 12 similar to ribosomal protein L13a; 60S ribosomal protein L13a; 23 kD highly basic protein OS-9 12q13 amplified in osteosarcoma CENTG1 12q13.3 centaurin, gamma 1 SAS 12q13-q14 sarcoma amplified sequence CDK4 12q14 cyclin-dependent kinase 4 LOC92979 12q13.2 hypothetical protein BC009489 CYP27B1 12q13-q14 cytochrome P450, family 27, subfamily B, polypeptide 1 METTL1 12q13 methyltransferase-like 1
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
21 - 2932 - 900 - 2004 15274629
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivestomach   highly
Nervousbrain    
Reproductivefemale systemuteruscervix highly
 male systemprostate   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N-terminal GST-like subdomain required for its association with the multisynthetase complex
  • a catalytic Rossmann fold
  • a connective peptide
  • a KMSKS domain
  • a C-terminal alpha helix bundle domain
  • mono polymer dimer
    HOMOLOGY
    interspecies ortholog to murine Mars
    Homologene
    FAMILY class-1 aminoacyl-tRNA synthetase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • having tRNA ligase activity
  • and may be involved in amino acid activation
  • catalyzes the ligation of methionine to its cognate transfer RNA and therefore plays an essential role in protein biosynthesis
  • is a coupler of translational inhibition and DNA repair following DNA damage by releasing bound tumor suppressor EEF1E1 for its nuclear translocation
  • catalyzes the ligation of methionine to tRNA and is critical for protein biosynthesis
  • component of a multi-protein complex and catalyzes the ligation of methionine to tRNA molecules
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • 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
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • provides a cytosolic anchoring site for aminoacyl-tRNA synthetase-interacting multifunctional protein-3 (EEF1E1),
  • a potent tumor suppressor that is translocated to the nucleus for DNA repair upon DNA damage
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PALVP , CMT2U
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    causes a multi-organ disorder with greater impact on liver, bone marrow, lung and thyroid function than on neuronal function during infancy
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS