1. Gene
  2. KARS1 - lysyl-tRNA synthetase 1 Gene

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_anti-codon: OB-fold nucleic acid binding domain (127 - 206)

tRNA-synt_2

tRNA-synt_2: tRNA synthetases class II (D, K and N) (223 - 574)

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  • 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) Q15046-1 (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

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