MARS1 - methionyl-tRNA synthetase 1 Gene

Also Known as MRS; ILLD; MARS; TTD9; CMT2U; ILFS2; METRS; MTRNS; SPG70

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4141

About MARS1

Cytogenetic location: 12q13.3 Genomic coordinates (GRCh38): 12:57,488,068-57,516,652 (from NCBI)

This gene has 35 transcripts (splice variants), 198 orthologues, 7 paralogues and is associated with 6 phenotypes. Ubiquitous expression in testis (RPKM 31.8), appendix (RPKM 28.7) and 25 other tissues.

Summary

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]

MARS1 Products (1)

mRNA	Protein	Name
NM_004990.4	NP_004981.2	methionine--tRNA ligase, cytoplasmic

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables methionine-tRNA ligase activity	IDA IDA: Inferred from direct assay	11714285	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in cellular response to epidermal growth factor stimulus	IDA IDA: Inferred from direct assay	10791971	GOA
involved in cellular response to platelet-derived growth factor stimulus	IDA IDA: Inferred from direct assay	10791971	GOA
involved in methionyl-tRNA aminoacylation	IDA IDA: Inferred from direct assay	11714285	GOA
involved in methionyl-tRNA aminoacylation	IMP IMP: Inferred from mutant phenotype	33909043	GOA
involved in positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IMP IMP: Inferred from mutant phenotype	10791971	GOA
involved in rRNA transcription	IMP IMP: Inferred from mutant phenotype	10791971	GOA

Cellular Component GO Annotation	Evidence	Références	Source
part of aminoacyl-tRNA synthetase multienzyme complex	IDA IDA: Inferred from direct assay	10791971	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	10791971	GOA
located in cytosol	IDA IDA: Inferred from direct assay	19289464	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	10791971	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MARS1 Protein Structure

tRNA-synt_1g

WHEP-TRS

0
200
400
600
800
900 a.a.

Protein Preferred Names	Protein Names
methionine--tRNA ligase, cytoplasmic	cytosolic methionyl-tRNA synthetase

MARS1 Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P83451	MetRS Antibody (YA3196)	WB, IHC-F, IHC-P, ICC/IF, FC, IP	Human, Rat
HY-P83451A	MetRS Antibody (YA3196)(PBS only)	WB, IHC-F, IHC-P, ICC/IF, FC, IP	Human, Rat

Related Diseases

Diseases	Alias
Interstitial Lung And Liver Disease	Severe Early-Onset Pulmonary Alveolar Proteinosis Due To Mars Deficiency ILLD Pulmonary Alveolar Proteinosis, Reunion Island Infantile Liver Failure Syndrome 2 Infantile Liver Failure Syndrome 2, Formerly Ilfs2, Formerly Hereditary Pulmonary Alveolar Proteinosis With Hepatic Involvement Pap, Reunion Island Type Pulmonary Alveolar Proteinosis, Reunion Island Type Ilfs2 Lung And Liver Disease, Interstitial
Charcot-Marie-Tooth Disease, Axonal, Type 2u	CMT2U Charcot-Marie-Tooth Disease Axonal Type 2u Charcot-Marie-Tooth Neuropathy, Type 2u Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2u Autosomal Dominant Charcot-Marie-Tooth Disease Type 2u Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2u Charcot-Marie-Tooth Neuropathy Type 2u Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Mars Mutation Charcot-Marie-Tooth Disease 2u
Trichothiodystrophy 9, Nonphotosensitive	TTD9 Trichothiodystrophy 9, Non-Photosensitive
Pulmonary Alveolar Proteinosis
Autosomal Recessive Spastic Paraplegia Type 70	Spg70
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Trichothiodystrophy	Ttd Amish Brittle Hair Syndrome Bids Syndrome Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome Ibids Pibids Trichothiodystrophy Syndromes
Infantile Liver Failure Syndrome 1	ILFS1 Acute Infantile Liver Failure-Multisystemic Involvement Syndrome Liver Failure Syndrome, Infantile, Type 1 Liver Failure
Charcot-Marie-Tooth Disease, Axonal, Type 2w	CMT2W Autosomal Dominant Charcot-Marie-Tooth Disease Type 2w Charcot-Marie-Tooth Neuropathy, Type 2w Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2w Charcot-Marie-Tooth Disease, Axonal Type 2w Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2w Charcot-Marie-Tooth Neuropathy Type 2w Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Hars Mutation Charcot-Marie-Tooth Disease 2w
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Spastic Ataxia 3
Charcot-Marie-Tooth Disease, Axonal, Type 2d	Charcot-Marie-Tooth Disease Type 2d CMT2D Charcot-Marie-Tooth Disease, Type 2d Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d Charcot-Marie-Tooth Disease Neuronal Type 2d Charcot-Marie-Tooth Neuropathy Type 2d Charcot-Marie-Tooth Disease, Neuronal, Type 2d Charcot-Marie-Tooth Neuropathy, Type 2d Charcot-Marie-Tooth Disease 2d Charcot-Marie-Tooth Disease Axonal Type 2d
Tooth Disease	Tooth Diseases Teeth Disease Tooth Disorders
Charcot-Marie-Tooth Disease, Axonal, Type 2n	Charcot-Marie-Tooth Disease Axonal Type 2n CMT2N Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Neuropathy Axonal Type 2n Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Disease 2n Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2n Charcot-Marie-Tooth Disease, Type 2n
Usher Syndrome, Type Iiib	Usher Syndrome Type 3b USH3B Usher Syndrome Type Iiib Usher Syndrome 3b
Charcot-Marie-Tooth Disease, Dominant Intermediate C	CMTDIC Charcot-Marie-Tooth Disease Dominant Intermediate C Di-Cmtc Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C Charcot-Marie-Tooth Neuropathy, Dominant Intermediate C Charcot-Marie-Tooth Neuropathy Dominant Intermediate C Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, C Charcot-Marie-Tooth Disease, Dominant Intermediate, Type C
Spastic Ataxia 2
Infantile Liver Failure Syndrome	Infantile Liver Failure
Liver Disease	Liver Failure Liver Diseases Abnormality Of The Liver Liver Dysfunction Disorder Of Liver Hepatic Disorder Hepatic Disease Disease Of Bilirubin Metabolism Disorder Of Bilirubin Metabolism Liver Decompensation Liver Function Failure Hepatic Failure Nos Liver Failure Nos End Stage Liver Disease Decompensated Liver Failure Decompensation Of Liver Function Hepatic Decompensation Hepatic Insufficiency Liver Cell Necrosis With Hepatic Failure Liver Insufficiency Decompensated Liver Disease End Stage Liver Failure Liver Necrosis With Hepatic Failure
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Charcot-Marie-Tooth Disease Recessive Intermediate B CMTRIB Ri-Cmtb Charcot-Marie-Tooth Disease, Recessive Intermediate, B Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B Charcot-Marie-Tooth Neuropathy Recessive Intermediate B Charcot-Marie-Tooth Neuropathy, Recessive Intermediate B Ri-Cmt Type B Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, B
Aminoaciduria
Charcot-Marie-Tooth Disease Intermediate Type	Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Dominant Intermediate Charcot-Marie-Tooth Disease Recessive Intermediate Intermediate Cmt Intermediate Hereditary Motor And Sensory Neuropathy Charcot-Marie-Tooth Disease, Intermediate Type Charcot-Marie-Tooth, Intermediate
Interstitial Lung Disease	Ild Lung Diseases, Interstitial Lung Diseases Interstitial Interstitial Lung Diseases
Mehmo Syndrome	Mental Retardation, Epileptic Seizures, Hypogonadism And Hypogenitalism, Microcephaly, And Obesity MEHMO Mrxs20 Mrxs25 X-Linked Intellectual Disability-Epileptic Seizures-Hypogenitalism-Microcephaly-Obesity Syndrome Mrxsbrk Mental Retardation, X-Linked, Syndromic 20 Mental Retardation, X-Linked, Syndromic 25 Mental Retardation, X-Linked, Syndromic, Borck Type Syndromic X-Linked Mental Retardation 20 Syndromic X-Linked Mental Retardation 25 Intellectual Disability, Epileptic Seizures, Hypogonadism And Hypogenitalism, Microcephaly, And Obesity X-Linked Mehmo Syndrome
Motor Neuron Disease	Anterior Horn Cell Disease Motor Neuron Diseases Mnd - [Motor Neurone Disease] Lou Gehrig Disease Creeping Palsy Creeping Paralysis Bulbar Motor Neuron Disease Bulbar Syndrome Anterior Horn Cell Disorder Hereditary Motor Neuron Disease
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Autosomal Dominant Distal Hereditary Motor Neuronopathy	Autosomal Dominant Distal Hereditary Motor Neuropathy Autosomal Dominant Dhmn Autosomal Dominant Distal Spinal Muscular Atrophy
Arthrogryposis, Distal, Type 1a	Distal Arthrogryposis Type 1 Digitotalar Dysmorphism DA1A Da1 Amcd1 Arthrogryposis, Distal, Type 2b4 Distal Arthrogryposis Type 1a Arthrogryposis, Distal, Type 1 Arthrogryposis Multiplex Congenita Distal Type 1 Arthrogryposis Multiplex Congenita, Distal Type 1 Arthrogryposis Multiplex Congenita, Distal, Type I Distal Arthrogryposis Type 1b Arthrogryposis, Distal, 1a Amc Arthrogryposis Multiplex Congenita Arthrogryposis, Distal, 2b4 DA2B4 Arthrogryposis Multiplex Congenita, Distal, Type 1 Arthrogryposis
Neuronopathy, Distal Hereditary Motor, Type Va	Dsmav Distal Hereditary Motor Neuropathy Type V Young Adult-Onset Distal Hereditary Motor Neuropathy Neuronopathy, Distal Hereditary Motor, Type V Distal Hereditary Motor Neuronopathy Type 5 Dhmn5 Distal Spinal Muscular Atrophy Type 5 HMN5A Hmn5 Dhmn5a Dhmn Va Dsmava Spinal Muscular Atrophy, Distal, With Upper Limb Predominance Distal Hmn V Autosomal Recessive Distal Spinal Muscular Atrophy Type 5 Dsma5 Young Adult-Onset Dhmn Dhmn-V Hmn V Neuronopathy, Distal Hereditary Motor, Type 5a Hmn 5a Neuropathy, Distal Hereditary Motor, Type Va Spinal Muscular Atrophy, Distal, Type Va Spinal Muscular Atrophy, Distal, Type V Distal Spinal Muscular Atrophy Type V Distal Spinal Muscular Atrophy With Upper Limb Predominance Distal Hereditary Motor Neuronopathy Type 5a Distal Hmn Va Distal Spinal Muscular Atrophy Type Va Distal Hereditary Motor Neuropathy, Type V Distal Hereditary Motor Neuronopathy, Type V Distal Spinal Muscular Atrophy, Type V Spinal Muscular Atrophy, Distal Type V Distal Hereditary Motor Neuropathy Type 5 Neuronopathy, Distal Hereditary Motor, 5a Dhmn V Distal Hereditary Motor Neuronopathy Type Va Distal Hereditary Motor Neuropathy Type Va Dsma-V Hmn Va Spinal Muscular Atrophy Distal Type V Spinal Muscular Atrophy Distal Type Va Spinal Muscular Atrophy Distal With Upper Limb Predominance Neuropathy, Distal Hereditary Motor, Type V Neuropathy, Motor, Distal, Hereditary, Type Va
Sleeping Sickness	African Trypanosomiasis African Sleeping Sickness Trypanosomiasis, Human East-African Trypanosomiasis, East African Trypanosomiasis African Trypanosomiasis, African Human African Trypanosomiasis
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS08153	MARS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MARS1	VGNC	VGNC:31250
Mus musculus	MARS1	MGD	MGI:1345633
Macaca mulatta	MARS1	VGNC	VGNC:74660
Canis familiaris	MARS1	VGNC	VGNC:43027
Felis catus	MARS1	VGNC	VGNC:68186
Rattus norvegicus	MARS1	RGD	RGD:1305321
Others	MARS1	NCBI