EPRS1 - glutamyl-prolyl-tRNA synthetase 1 Gene

Also Known as EARS; EPRS; PARS; QARS; QPRS; HLD15; PIG32; GLUPRORS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2058

About EPRS1

Cytogenetic location: 1q41 Genomic coordinates (GRCh38): 1:219,968,600-220,046,505 (from NCBI)

This gene has 6 transcripts (splice variants), 213 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 31.6), appendix (RPKM 22.6) and 25 other tissues.

Summary

Aminoacyl-tRNA synthetases are a class of Enzymes that charge tRNAs with their cognate Amino acids. The protein encoded by this gene is a multifunctional Aminoacyl-tRNA Synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species. Alternative splicing has been observed for this gene, but the full-length nature and biological validity of the variant have not been determined. [provided by RefSeq, Jul 2008]

EPRS1 Products (1)

mRNA	Protein	Name
NM_004446.3	NP_004437.2	bifunctional glutamate/proline--tRNA ligase

EPRS1 Protein Structure

GST_C_3

tRNA-synt_1c

tRNA-synt_1c_C

WHEP-TRS

tRNA-synt_2b

HGTP_anticodon

ProRS-C_1

0
300
600
900
1200
1512 a.a.

Protein Preferred Names	Protein Names
bifunctional glutamate/proline--tRNA ligase	bifunctional aminoacyl-tRNA synthetase

EPRS1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	EPRS1	P07814	SYNCRIP	Homo sapiens	O60506	Anti Bait CoIP	21220307
Intra	EPRS1	P07814	SYNCRIP	Homo sapiens	O60506	Anti Bait CoIP	22386318
Intra	EPRS1	P07814	IARS1	Homo sapiens	P41252	Y2H	11142386
Intra	EPRS1	P07814	IARS1	Homo sapiens	P41252	CoIP	10913161
Intra	EPRS1	P07814	KARS1	Homo sapiens	Q15046	Anti Bait CoIP	21220307
Intra	EPRS1	P07814	RARS1	Homo sapiens	P54136	Y2H	9556618
Intra	EPRS1	P07814	NCAPD3	Homo sapiens	P42695	Anti Bait CoIP	29028794

Cross: Cross-species interaction Intra: Intraspecies interaction

EPRS1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P89919	ProRS Antibody (YA9263)	WB, ICC/IF, IF-Tissue, IP, ELISA	human

Related Diseases

Diseases	Alias
Leukodystrophy, Hypomyelinating, 15	HLD15
Antisynthetase Syndrome	As Syndrome Anti-Jo1 Syndrome
Hypomyelinating Leukodystrophy	Hld Leukodystrophy, Hypomyelinating
Usher Syndrome, Type Iiib	Usher Syndrome Type 3b USH3B Usher Syndrome Type Iiib Usher Syndrome 3b
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
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
Cerebral Degeneration	Brain Degeneration Degenerative Brain Disorder
Combined Oxidative Phosphorylation Deficiency 12	COXPD12 Ltbl Leukoencephalopathy With Thalamus And Brainstem Involvement And High Lactate Leukoencephalopathy-Thalamus And Brainstem Anomalies-High Lactate Syndrome Combined Oxidative Phosphorylation Defect Type 12 Combined Oxidative Phosphorylation Deficiency, Type 12
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
Separation Anxiety Disorder	Separation Anxiety Disorder Of Childhood
Infancy Electroclinical Syndrome
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
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 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
Multiple Mitochondrial Dysfunctions Syndrome 4	MMDS4 Multiple Mitochondrial Dysfunctions Syndrome Type 4 Mitochondrial Dysfunctions, Multiple, Syndrome, Type 4
Combined Oxidative Phosphorylation Deficiency 24	COXPD24 Combined Oxidative Phosphorylation Defect Type 24 Oxidative Phosphorylation Deficiency, Combined, Type 24
Deafness, Autosomal Recessive 94	DFNB94 Autosomal Recessive Nonsyndromic Deafness 94 Autosomal Recessive Deafness 94 Deafness, Autosomal Recessive, 94
Specific Developmental Disorder
Deafness, Autosomal Recessive 89	DFNB89 Autosomal Recessive Nonsyndromic Deafness 89 Autosomal Recessive Deafness 89 Deafness, Autosomal Recessive, 89 Deafness, Autosomal Recessive, Type 89
Neonatal Period Electroclinical Syndrome
Leukodystrophy	Leukodystrophies
Infantile Liver Failure Syndrome	Infantile Liver Failure
Physical Disorder	Physical Illness
Combined Oxidative Phosphorylation Deficiency 20	COXPD20 Combined Oxidative Phosphorylation Defect Type 20 Oxidative Phosphorylation Deficiency, Combined, Type 20
Parasitic Protozoa Infectious Disease	Protozoan Infections Mastigophora Infectious Disease Sarcomastigophora Infectious Disease
Pleurisy
Disease Of Mental Health	Mental Health Mental Disorders
Autosomal Dominant Distal Hereditary Motor Neuronopathy	Autosomal Dominant Distal Hereditary Motor Neuropathy Autosomal Dominant Dhmn Autosomal Dominant Distal Spinal Muscular Atrophy
Acrocephalopolysyndactyly Type Iii	Sakati Syndrome Sakati-Nyhan Syndrome Acps With Leg Hypoplasia Acps Iii Acrocephalopolysyndactyly Type 3 Sakati-Nyhan-Tisdale Syndrome
Acute Cystitis	Urinary Tract Infection Recurrent Urinary Tract Infection
Thrombosis	Thrombosis Of Blood Vessel
Lung Disease	Lung Diseases Disorder Of Lung Abnormality Of The Lung
Sensory System Disease
Muscle Tissue Disease
Chromosomal Disease	Chromosomal Disorders Congenital Chromosomal Disease
Mitochondrial Metabolism Disease	Abnormality Of Mitochondrial Metabolism Mitochondrial Diseases
Chromosomal Duplication Syndrome
Childhood Electroclinical Syndrome
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
Lennox-Gastaut Syndrome	Lennox Syndrome Encephalopathy Of Childhood Epileptic Encephalopathy Lennox-Gastaut Type Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves Lgs
Auditory System Disease	Ear Diseases Ear And Mastoid Disease
Perrault Syndrome	Gonadal Dysgenesis, Xx Type, With Deafness Ovarian Dysgenesis With Sensorineural Deafness Gonadal Dysgenesis, Xx Type Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance Xx Gonodal Dysgenesis-Deafness Syndrome Xx Gonodal Dysgenesis-Hearing Loss Syndrome Gonadal Dysgenesis Xx Type Deafness
46 Xx Gonadal Dysgenesis	Ovarian Dysgenesis Gonadal Dysgenesis, 46,Xx Dysgenesis, Ovarian
Necrotizing Fasciitis	Fasciitis, Necrotizing
Gastric Ulcer	Stomach Ulcer Acute Gastric Ulcer With Haemorrhage And Perforation Acute Gastric Ulcer With Hemorrhage And Obstruction Acute Gastric Ulcer With Hemorrhage And Perforation Acute Gastric Ulcer With Hemorrhage And Perforation, With Obstruction Acute Gastric Ulcer With Hemorrhage And Perforation, Without Mention Of Obstruction Acute Gastric Ulcer With Hemorrhage And With Perforation But Without Obstruction Acute Gastric Ulcer With Hemorrhage, With Obstruction Acute Gastric Ulcer With Hemorrhage, With Perforation And With Obstruction Acute Gastric Ulcer With Perforation Acute Gastric Ulcer With Perforation And Obstruction Acute Gastric Ulcer With Perforation, With Obstruction Acute Gastric Ulcer Without Hemorrhage And Without Perforation Acute Gastric Ulcer Without Hemorrhage, Without Perforation And Without Obstruction Acute Gastric Ulcer Without Mention Of Hemorrhage Or Perforation, Without Mention Of Obstruction Bleeding Acute Gastric Ulcer Chronic Gastric Ulcer Without Hemorrhage And Without Perforation Chronic Gastric Ulcer Without Hemorrhage And Without Perforation But With Obstruction Chronic Gastric Ulcer Without Mention Of Hemorrhage Or Perforation, With Obstruction Gastric Ulcers Cushings Ulcer Cushing'S Ulcer Of Stomach Peptic Ulcer Of Stomach Mucosal Defect Of The Stomach
Pervasive Developmental Disorder	Pervasive Development Disorder Pervasive Developmental Disorders Pervasive Child Development Disorders Autistic Behavior Autism Spectrum Disorders
Central Nervous System Disease	Cns Disorder CNS Cns Diseases Central Nervous System Diseases
Muscular Disease
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
Pelizaeus-Merzbacher Disease	PMD HLD1 Pelizaeus-Merzbacher Brain Sclerosis Leukodystrophy, Hypomyelinating, 1 Diffuse Familial Brain Sclerosis Pelizaeus Merzbacher Brain Sclerosis Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type Cockayne-Pelizaeus-Merzbacher Disease Hypomyelinating Leukodystrophy 1 Leukodystrophy, Sudanophilic Pelizaeus Merzbacher Disease Hypomyelinating Leukodystrophy, 1 Sudanophilic Leukodystrophy Pelizaeus-Merzbacher Disease, Connatal Form Connatal Pmd Pelizaeus-Merzbacher Disease Type Ii Severe Pmd Null Syndrome Plp1 Null Syndrome Pelizaeus-Merzbacher Disease, Null Syndrome Brain Sclerosis Diffuse Familial Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type Leukodystrophy Hypomyelinating 1 Diffuse Cerebral Sclerosis Of Schilder
Inner Ear Disease	Labyrinthine Dysfunction Diseases Of Inner Ear Labyrinthine Disease Abnormality Of The Inner Ear Labyrinth Diseases Labyrinthine Disorder Nonfunctioning Labyrinth Labyrinthine Loss Of Function Labyrinthine Syndrome Labyrinthine Disorder Nos
Usher Syndrome, Type Iiia	Usher Syndrome Type 3 Ush3 Usher Syndrome Type 3a USH3A Usher Syndrome, Type Iii Usher Syndrome, Type 3 Usher Syndrome, Type 3a Usher Syndrome Type Iiia Usher Syndrome 3a Usher'S Syndrome Type 3 Usher Syndrome Iii Usher Syndrome Type Iii
Epilepsy, Idiopathic Generalized 3	EIG3 Idiopathic Generalized Epilepsy 3 Epilepsy, Idiopathic Generalized, Susceptibility To, 3 Epilepsy, Idiopathic Generalized Locus On Chromosome 9 Epilepsy, Idiopathic Generalized, Susceptibility To, Locus On Chromosome 9 Epilepsy, Idiopathic Generalized, Susceptibility To 3
Disease By Infectious Agent	Infectious Disease Infectious Diseases
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Pontocerebellar Hypoplasia	Pch Congenital Pontocerebellar Hypoplasia Opch Hypoplasia, Pontocerebellar Pontoneocerebellar Hypoplasia Nonsyndromic Pontocerebellar Hypoplasia
Primary Autosomal Recessive Microcephaly	Autosomal Recessive Primary Microcephaly Mcph True Microcephaly Microcephalia Vera Microcephaly Vera Microcephaly Primary Hereditary Microcephaly, Primary, Autosomal Recessive Primary Microcephaly
Primary Microcephaly	True Microcephaly Microcephaly, Primary
Integumentary System Disease
Urinary Tract Infection	Urinary Tract Infections Uti Urinary Tract Infection Nos Uti - [Urinary Tract Infection] Uti Nos - [Urinary Tract Infection Nos] Urosepsis Nos E Coli Uti E Coli Urinary Tract Infection Escherichia Coli Uti
Inherited Metabolic Disorder	Inborn Errors Of Metabolism Inborn Metabolic Disorder Inborn Metabolism Disorder Metabolic Hereditary Disorder Inborn Error Of Metabolism Metabolism, Inborn Errors
Acquired Metabolic Disease
Mitochondrial Encephalomyopathy	Mitochondrial Encephalomyopathies Encephalomyopathy, Mitochondrial
Cardiovascular System Disease	Abnormality Of The Cardiovascular System Cardiovascular Disease Disease Of Subdivision Of Hemolymphoid System Disorder Of Cardiovascular System Cardiovascular Diseases
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Melas Syndrome MELAS Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Gonadal Dysgenesis	Gonadal Dysgenesis Syndrome Turner Syndrome
Idiopathic Interstitial Pneumonia	Hamman-Rich Syndrome Diffuse Idiopathic Pulmonary Fibrosis Idiopathic Fibrosing Alveolitis Ipf Idiopathic Interstitial Pneumonias Idiopathic Interstitial Pneumonia, Not Otherwise Specified Pulmonary Fibrosis
Cerebrovascular Disease	Cerebrovascular Disorder Cerebrovascular Accident Cerebrovascular Disorders Cva Stroke
Cleft Palate, Cardiac Defects, And Mental Retardation	Cardiac Malformation, Cleft Lip/Palate, Microcephaly, And Digital Anomalies CPCMR Cleft Palate, Cardiac Defects, And Intellectual Disabillity Cleft Palate, Cardiac Defects, And Intellectual Disability Cardiac Malformation, Cleft Lip-Palate, Microcephaly And Digital Anomalies
Amino Acid Metabolic Disorder	Amino Acid Metabolism, Inborn Errors Inborn Errors Of Amino Acid Metabolism Disorder Of Amino Acid Metabolism Amino Acid Metabolism Disorders
Epilepsy, Idiopathic Generalized 2	EIG2 Epilepsy, Idiopathic Generalized, Susceptibility To, 2 Idiopathic Generalized Epilepsy 2 Epilepsy, Idiopathic Generalized Locus On Chromosome 14 Epilepsy, Idiopathic Generalized, Susceptibility To, Locus On Chromosome 14
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Meningoencephalitis	Acquired Toxoplasmal Meningoencephalitis Meningoencephalitis Due To Acquired Toxoplasmosis Meningoencephalitis Due To Toxoplasmosis Toxoplasma Meningoencephalitis
Refractive Error	Refractive Errors
Premature Ovarian Failure 18	POF18 Primary Ovarian Insufficiency 18 Ovarian Failure, Premature, Type 18
Sleeping Sickness	African Trypanosomiasis African Sleeping Sickness Trypanosomiasis, Human East-African Trypanosomiasis, East African Trypanosomiasis African Trypanosomiasis, African Human African Trypanosomiasis
Cystic Fibrosis	Mucoviscidosis CF Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis Cystic Fibrosis Lung Disease, Modifier Of Cystic Fibrosis Of Pancreas Fibrocystic Disease Of Pancreas Cf - [Cystic Fibrosis] Cystic Fibrosis Nos Fibrocystic Disease Fibrocystic Disease Of The Pancreas Mucoviscidosis Of Pancreas Nonproliferative Fibrocystic Disease Pancreatic Cystic Fibrosis
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile
Organic Acidemia	Organic Aciduria Disorder Of Organic Acid Metabolism Organic Acid Metabolism Disorder Organic Acidemias Inherited Organic Acidemia Organic Acidurias Aciduria Organic
Asthma	Chronic Obstructive Asthma Asthma, Diminished Response To Antileukotriene Treatment In Bronchial Hyperreactivity Asthma, Susceptibility To Asthma, Bronchial Asthma, Protection Against Asthma, Nocturnal, Susceptibility To Nocturnal Asthma Asthma-Related Traits Asthma-Related Traits, Susceptibility To Asthma, Nocturnal Chronic Obstructive Asthma With Acute Exacerbation Chronic Obstructive Asthma With Status Asthmaticus Exercise Induced Asthma Exercise-Induced Asthma Bronchial Asthma Asthma, Exercise-Induced Idiosyncratic Asthma Unspecified Asthma With Acute Exacerbation Asthma, Unspecified, With Stated Status Asthmaticus Status Asthmaticus Nos Acute Severe Asthma Acute Severe Bronchial Asthma Status Asthma Status Post Asthmaticus
Oligohydramnios	Oligohydramnios - Delivered Antepartum Oligohydramnios Delivered Oligohydramnios Oligohydramnios, Antepartum Condition Or Complication Deficient Liquor Oligohydramnios, Unspecified Trimester Reduced Liquor Volume
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Cranial Nerve Disease	Cranial Nerve Disorder Disorder Of Cranial Nerve Cranial Nerve Diseases
Respiratory System Disease	Abnormality Of The Respiratory System Respiration Disorders Respiratory Tract Diseases
Interstitial Lung Disease	Ild Lung Diseases, Interstitial Lung Diseases Interstitial Interstitial Lung Diseases
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Vascular Disease	Vascular Diseases Aneurysm Spinal Cord Ischemia Vascular Anomaly Spinal Cord Vascular Diseases Vascular Tissue Disease
Optic Nerve Disease	Optic Neuropathy Disorder Of The Second Nerve Optic Nerve Disorder Optic Nerve Abnormality Of The Optic Nerve Optic Nerve Disorders Neuropathy, Optic Disorder Of The Optic Nerve
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Carbohydrate Metabolic Disorder	Inborn Errors Of Carbohydrate Metabolism Disorder Of Carbohydrate Metabolism Carbohydrate Metabolism, Inborn Errors Disorder Of Carbohydrate Transport And Metabolism Inborn Carbohydrate Metabolism Disorder Inborn Carbohydrate Metabolic Disorder Carbohydrate Metabolism Disorder Carbohydrate Metabolism Disorders Disorders Of Carbohydrate Metabolism Congenital Disorders Of Carbohydrate Metabolism Inherited Disorders Of Carbohydrate Metabolism
Cartilage-Hair Hypoplasia	Metaphyseal Chondrodysplasia, Mckusick Type CHH Mckusick Type Metaphyseal Chondrodysplasia Metaphyseal Dysplasia Without Hypotrichosis Cartilage Hair Hypoplasia Like Syndrome Metaphyseal Chondrodysplasia Mckusick Type Chhv Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency Cartilage-Hair Syndrome Mckusick'S Metaphyseal Chondrodysplasia Syndrome Metaphyseal Chondrodysplasia, Recessive Type Autosomal Recessive Metaphyseal Chondrodysplasia
Trypanosomiasis
Glucose Metabolism Disease	Glucose Metabolism Disorders Disorder Of Glucose Metabolism
Immune System Disease	Abnormality Of The Immune System Immune System And Disorders Immune System Diseases
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
Spastic Ataxia	Spax Ataxia, Spastic
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
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Psychotic Disorder	Psychotic Disorders Mental Or Behavioural Disorder Psychotic Mental Disorders
Hereditary Ataxia	Sca Spinocerebellar Ataxia Ataxias Hereditary Ataxias, Hereditary
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Movement Disease	Movement Disorders Movement Disorder
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
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
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
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
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Immune Deficiency Disease	Immunodeficiency Primary Immunodeficiency Primary Immunodeficiency Disease Immunologic Deficiency Syndromes Hypoimmunity Immune Deficiency Disorder Immunodeficiency Syndrome Immune Disorder Primary Immune Deficiency Disorder Immune System Diseases Human Immunodeficiency Virus Infection Hiv - [Human Immunodeficiency Virus Infection] Hiv Positive Nos Hiv Disease Acquired Immune Deficiency Syndrome-Related Complex Aids-Like Syndrome Aids-Related Complex Nos Arc - [Aids-Related Complex] Immunodeficiency Due To Human Immunodeficiency Virus Infection Unspecified Human Immunodeficiency Virus Disease Hiv Disease Nos Human Immunodeficiency Virus Positive Nos Hiv Nos Deficiency Of Complement Initial Pathway Deficiency Of Complement Terminal Pathway Cfdd - [Complement Factor D Deficiency] Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency Nonfamilial Hypogammaglobulinaemia Common Variable Immune Deficiency Nonfamilial Agammaglobulinaemia Common Variable Agammaglobulinaemia Agammaglobulinaemia Nos Agammaglobulinaemia Antibody Deficiency Syndrome Hypogammaglobulinaemia Antibody Deficiency Syndrome Acquired Agammaglobulinaemia Nos Hypogammaglobulinaemia Nos Hyper Igm
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Myopathy	Muscular Diseases Myopathies

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.	Product Name	Effect	Purity	Rare Diseases
HY-RS04451	EPRS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	EPRS1	MGD	MGI:97838
Macaca mulatta	EPRS1	VGNC	VGNC:72247
Rattus norvegicus	EPRS1	RGD	RGD:1310952
Felis catus	EPRS1	VGNC	VGNC:61917
Bos taurus	EPRS1	VGNC	VGNC:28552
Canis familiaris	EPRS1	VGNC	VGNC:40425
Others	EPRS1	NCBI