MARS1

Full Name

MARS1

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).

Biological Process

Cellular response to epidermal growth factor stimulus Source: CAFA
Cellular response to insulin stimulus Source: CAFA
Cellular response to platelet-derived growth factor stimulus Source: CAFA
Cellular response to starvation Source: CAFA
Methionyl-tRNA aminoacylation Source: UniProtKB
Positive regulation of transcription of nucleolar large rRNA by RNA polymerase I Source: CAFA
rRNA transcription Source: CAFA
tRNA aminoacylation for protein translation Source: GO_Central

Cellular Location

Cytoplasm and Cytosol
Nucleus
Nucleolus
Note: Localizes to the nucleolus in proliferative cells but disappears in quiescent cells.

Involvement in disease

Interstitial lung and liver disease (ILLD):
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.
Charcot-Marie-Tooth disease 2U (CMT2U):
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.