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FLASH GENE

Symbol

MARS

contributors: mct - updated : 19-05-2015

HGNC name	methionine-tRNA synthetase
HGNC id	6898

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004990 21 - 2932 NP_004981 - 900 - 2004 15274629

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive stomach       highly Nervous brain         Reproductive female system uterus cervix   highly   male system prostate

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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