MARS1
entrez
4141
canonical
uniprot
P56192
canonical
ensembl
ENSG00000166986
resolver
ensp
ENSP00000262027
resolver
ensp
ENSP00000738055
resolver
genesymbol
MARS1
resolver
genesymbol_syn
MARS
resolver
hgnc
HGNC:6898
resolver
uniprot
B3KVK7
resolver
uniprot
Q14895
resolver
uniprot
Q53H14
resolver
uniprot
Q96A15
resolver
uniprot
Q96BZ0
resolver
uniprot
Q9NSE0
resolver
uniprot_entry
SYMC_HUMAN
resolver
uniprot_sec
B3KVK7
resolver
uniprot_sec
Q14895
resolver
uniprot_sec
Q53H14
resolver
uniprot_sec
Q96A15
resolver
uniprot_sec
Q96BZ0
resolver
uniprot_sec
Q9NSE0
resolver
activity_regulation
ACTIVITY REGULATION: 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. {ECO:0000269|PubMed:11714285}.
uniprot
proteins
amino_acid_sequence
MRLFVSDGVPGCLPVLAAAGRARGRAEVLISTVGPEDCVVPFLTRPKVPVLQLDSGNYLFSTSAICRYFFLLSGWEQDDLTNQWLEWEATELQPALSAALYYLVVQGKKGEDVLGSVRRALTHIDHSLSRQNCPFLAGETESLADIVLWGALYPLLQDPAYLPEELSALHSWFQTLSTQEPCQRAAETVLKQQGVLALRPYLQKQPQPSPAEGRAVTNEPEEEELATLSEEEIAMAVTAWEKGLESLPPLRPQQNPVLPVAGERNVLITSALPYVNNVPHLGNIIGCVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKRGFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLGRTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDNVPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSELLNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQRAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQAKTSPKPAVVETVTTAKPQQIQALMDEVTKQGNIVRELKAQKADKNEVAAEVAKLLDLKKQLAVAEGKPPEAPKGKKKK
uniprot
proteins
disease_involvement
DISEASE: 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.; DISEASE: Charcot-Marie-Tooth disease, axonal, type 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.; DISEASE: Trichothiodystrophy 9, non-photosensitive (TTD9) [MIM:619692]: A form of trichothiodystrophy, a disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD9 is an autosomal recessive, non-photosensitive form characterized by brittle hair and nails, scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay. {ECO:0000269|PubMed:33909043}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Spastic paraplegia 70, autosomal recessive (SPG70) [MIM:620323]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG70 features may also include global developmental delay with variably impaired intellectual development, speech delay, feeding difficulties, and dysmorphic facial features. SPG70 is characterized by onset of symptoms in infancy. {ECO:0000269|PubMed:34585293}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.1.1.10
uniprot
proteins
function
FUNCTION: Catalyzes the specific attachment of L-methionine 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, PubMed:33909043). Plays a role in the synthesis of ribosomal RNA in the nucleolus (PubMed:10791971). In addition, can prevent the misincorporation of homocysteine into tRNA and protein by catalyzing a tRNA-independent hydrolysis of the misactivated homocysteinyl-AMP intermediate. The homocysteinyl-AMP intermediate undergoes an intramolecular cyclization reaction in which the thiolate side chain of homocysteine displaces the AMP group, forming homocysteine-thiolactone and AMP (By similarity). {ECO:0000250|UniProtKB:A0A9J7F5X6, ECO:0000269|PubMed:10791971, ECO:0000269|PubMed:11714285, ECO:0000269|PubMed:33909043}.
uniprot
proteins
mass_dalton
101116
uniprot
proteins
mutagenesis
MUTAGEN 64; /note="A->R: Loss of interaction with EEF1E1."; /evidence="ECO:0000269|PubMed:26472928"; MUTAGEN 86; /note="E->R: Loss of interaction with EEF1E1."; /evidence="ECO:0000269|PubMed:26472928"; MUTAGEN 857; /note="R->A: No effect on enzyme activity."; /evidence="ECO:0000269|PubMed:11714285"; MUTAGEN 860; /note="K->A: Strongly decreased affinity for tRNA."; /evidence="ECO:0000269|PubMed:11714285"; MUTAGEN 863; /note="K->A: Slightly decreased enzyme activity."; /evidence="ECO:0000269|PubMed:11714285"; MUTAGEN 866; /note="K->A: Slightly decreased enzyme activity."; /evidence="ECO:0000269|PubMed:11714285"; MUTAGEN 880; /note="K->A: Strongly decreased affinity for tRNA."; /evidence="ECO:0000269|PubMed:11714285
uniprot
proteins
protein_family
Class-I aminoacyl-tRNA synthetase family
uniprot
proteins
pubmed
10791971
uniprot
proteins
pubmed
11714285
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19131329
uniprot
proteins
pubmed
19289464
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23729695
uniprot
proteins
pubmed
24103465
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24354524
uniprot
proteins
pubmed
24482476
uniprot
proteins
pubmed
25913036
uniprot
proteins
pubmed
26472928
uniprot
proteins
pubmed
33909043
uniprot
proteins
pubmed
34585293
uniprot
proteins
pubmed
8921912
uniprot
proteins
sequence_length
900
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:10791971, ECO:0000269|PubMed:19289464, ECO:0000305|PubMed:26472928}. Nucleus, nucleolus {ECO:0000269|PubMed:10791971}. Note=Localizes to the nucleolus in proliferative cells but disappears in quiescent cells. {ECO:0000269|PubMed:10791971}.
uniprot
proteins