KARS1 - lysyl-tRNA synthetase 1 Gene

Homo sapiens

Also known as KRS; KARS; KARS2; LEPID; CMTRIB; DEAPLE; DFNB89

Gene ID: 3735 | Gene type: protein coding

About KARS1

Cytogenetic location: 16q23.1 Genomic coordinates (GRCh38): 16:75,627,724-75,647,665 (from NCBI)

This gene has 12 transcripts (splice variants), 226 orthologues, 4 paralogues and is associated with 8 phenotypes. Ubiquitous expression in testis (RPKM 57.5), lymph node (RPKM 40.9) and 25 other tissues.

Summary

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate Amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

KARS1 Products(3)

mRNA	Protein	Name
NM_001130089.2	NP_001123561.1	lysine--tRNA ligase isoform 1
NM_001378148.1	NP_001365077.1	lysine--tRNA ligase isoform 3
NM_005548.3	NP_005539.1	lysine--tRNA ligase isoform 2

KARS1 Protein Structure

tRNA_anti-codon

tRNA-synt_2

0
100
200
300
400
500
597 a.a.

Protein Preferred Names

Protein Names

lysine--tRNA ligase

lysRS

Recombinant KARS1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70840	KARS Protein, Human (HEK293, His)	Q15046 (A2-V597)	≥95%

Related Diseases

Diseases

Alias

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

Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness

LEPID

Leukoencephalopathy, Progressive, Infantile-Onset, With/Without Deafness

Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy

DEAPLE

Deafness, Autosomal Recessive 89

DFNB89	Autosomal Recessive Nonsyndromic Deafness 89
Autosomal Recessive Deafness 89	Deafness, Autosomal Recessive, 89
Deafness, Autosomal Recessive, Type 89

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

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

Leukodystrophy

Leukodystrophies

Hypomyelinating Leukodystrophy

Hld	Leukodystrophy, Hypomyelinating

Non-Syndromic Genetic Deafness

Nonsyndromic Genetic Hearing Loss	Isolated Genetic Deafness
Isolated Genetic Hearing Loss	Non-Syndromic Genetic Hearing Loss

Nonsyndromic Hearing Loss

Nonsyndromic Deafness	Nonsyndromic Hearing Impairment
Nonsyndromic Hearing Loss And Deafness	Deafness, Nonsyndromic
Isolated Deafness

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

Hypotonia

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb	Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Polymyositis

Pm - [Polymyositis]

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

Microcytic Anemia

Iron-Refractory Iron Deficiency Anemia

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

Leukodystrophy, Hypomyelinating, 3

Hypomyelinating Leukodystrophy 3	HLD3
Pelizaeus-Merzbacher-Like Disease Due To Aimp1 Mutation	Leukodystrophy, Hypomyelinating 3
Perinatal Sudanophilic Leukodystrophy	Leukodystrophy, Hypomyelinating, Type 3
Pelizaeus-Merzbacher-Like Disease, Autosomal Recessive, 2

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 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

Developmental And Epileptic Encephalopathy 75

DEE75	Epileptic Encephalopathy, Early Infantile, 75
Eiee75	Developmental And Epileptic Encephalopathy, 75
Early Infantile Epileptic Encephalopathy 75

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

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

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

Charcot-Marie-Tooth Disease, Dominant Intermediate F

CMTDIF	Charcot-Marie-Tooth Disease Dominant Intermediate F
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type F	Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, F
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type F

Pontocerebellar Hypoplasia, Type 6

Pontocerebellar Hypoplasia Type 6	PCH6
Fatal Infantile Encephalopathy With Mitochondrial Respiratory Chain Defects	Encephalopathy, Fatal Infantile, With Mitochondrial Respiratory Chain Defects
Encephalopathy Fatal Infantile With Mitochondrial Respiratory Chain Defects	Pontocerebellar Hypoplasia 6
Hypoplasia, Pontocerebellar, Type 6

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

Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2

MLASA2	Myopathy With Lactic Acidosis And Sideroblastic Anemia 2
Myopathy, Lactic Acidosis, And Sideroblastic Anemia, Type 2

Autosomal Dominant Distal Hereditary Motor Neuronopathy

Autosomal Dominant Distal Hereditary Motor Neuropathy	Autosomal Dominant Dhmn
Autosomal Dominant Distal Spinal Muscular Atrophy

Cataract 4, Multiple Types

Cataract 4 Multiple Types	CTRCT4
Cca3	Pcc
Aculeiform Cataract	Cataract 4, Multiple Types, With Or Without Microcornea
Cataract, Crystalline Aculeiform	Caca
Cataract, Congenital, Cerulean Type, 3	Congenital Cataract Cerulean Type 3
Cataract Congenital Dominant Non Nuclear	Ccp
Cataract, Nonnuclear Polymorphic Congenital	Cataract, Punctate, Progressive Juvenile-Onset
Cataract 4 Multiple Types With Or Without Microcornea	Autosomal Dominant Nonnuclear Polymorphic Congenital Cataract
Cataract, Polymorphic Congenital	Congenital Cataract Blue Dot Type 3
Congenital Non-Nuclear Polymorphic Cataract	Crystalline Aculeiform Cataract
Punctate, Progressive Juvenile-Onset, Cataract	Cataract, Nonnuclear Polymorphic Congenital, Autosomal Dominant

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

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4	Charcot-Marie-Tooth Disease Type 4e
Hereditary Motor And Sensory Neuropathy	Cmt4e
CHN1	Hypomyelinating Neuropathy, Congenital, 1
Charcot-Marie-Tooth Neuropathy Type 4e	Neuropathy, Congenital Hypomyelinating, 1
Ar-Cmt1	Autosomal Recessive Demyelinating Charcot-Marie-Tooth
Cmt4	Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
Hypomyelination, Severe Congenital	Charcot-Marie-Tooth Disease, Type 4e
Charcot-Marie-Tooth Neuropathy, Type 4e	Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
Autosomal Recessive Congenital Hypomyelinating Neuropathy	Congenital Amyelinating Neuropathy
Congenital Hypomyelinating Neuropathy Autosomal Recessive	Neuropathy, Congenital Hypomyelinating Or Amyelinating
Severe Congenital Hypomyelination	Hereditary Sensory Motor Neuropathy
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive	Neuropathy, Hypomyelinating, Congenital, Type 1
Neuropathy, Motor And Sensory, Hereditary	Congenital Hypomyelinating Neuropathy
Hereditary Motor And Sensory Neuropathies	Hereditary Sensorimotor Neuropathy
Hmsn - [Hereditary Motor And Sensory Neuropathy]	Hsmn - [Hereditary Sensory And Motor Neuropathy]
Hereditary Motor And Sensory Neuropathy, Types I-Iv

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

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive	Autosomal Recessive Mental Retardation
Autosomal Recessive Non-Syndromic Mental Retardation	Autosomal Recessive Non-Syndromic Intellectual Disability

Pontocerebellar Hypoplasia

Pch	Congenital Pontocerebellar Hypoplasia
Opch	Hypoplasia, Pontocerebellar
Pontoneocerebellar Hypoplasia	Nonsyndromic Pontocerebellar Hypoplasia

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Spastic Ataxia

Spax	Ataxia, Spastic

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07071	KARS1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	KARS1	VGNC	VGNC:30396
Canis familiaris	KARS1	VGNC	VGNC:42207
Rattus norvegicus	KARS1	RGD	RGD:1359653
Macaca mulatta	KARS1	VGNC	VGNC:84892
Mus musculus	KARS1	MGD	MGI:1934754
Felis catus	KARS1	VGNC	VGNC:67886