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GeneE
23 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KARS1
lysyl-tRNA synthetase 1
Chromosome 16 Β· 16q23.1
NCBI Gene: 3735Ensembl: ENSG00000065427.16HGNC: HGNC:6215UniProt: Q15046
269PubMed Papers
24Diseases
0Drugs
32Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of macrophage activationERK1 and ERK2 cascadeplasma membraneATP:ADP adenylyltransferase activityleukoencephalopathy, progressive, infantile-onset, with or without deafnessdeafness, congenital, and adult-onset progressive leukoencephalopathyautosomal recessive nonsyndromic hearing loss 89Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
✦AI Summary

KARS1 encodes lysyl-tRNA synthetase 1, a multifunctional aminoacyl-tRNA synthetase responsible for ligating lysine to its cognate tRNA 1. The enzyme exists as both cytosolic and mitochondrial isoforms that function within the multi-tRNA synthetase complex 2, where it interacts with auxiliary proteins through leucine zipper motifs. Beyond translation, KARS1 has emerged as a secreted pro-inflammatory mediator; oscillatory shear stress upregulates KARS1 expression, triggering its release via secretory autophagy, where secreted KARS1 promotes atherogenesis by inhibiting endothelial signaling and functioning as a proinflammatory paracrine molecule 3. Biallelic KARS1 mutations cause a rare syndromic disorder characterized by early-onset developmental delay, sensorineural hearing loss, progressive neurological abnormalities, and white matter involvement 14. Additional phenotypes include congenital microcephaly, seizures, oculo-motor dysfunction, and cerebellar atrophy 5. Loss-of-function studies in zebrafish reveal p53-dependent apoptosis and downregulation of neurodevelopmental genes, suggesting p53 inhibition as a therapeutic target 1. Immunological complications including B cell lymphopenia, hypogammaglobulinemia, and recurrent infections occur in a subset of patients, linked to impaired mitochondrial function in B cells 6. In cancer, elevated KARS1 associates with worse prognosis through membrane interactions with the 67-kDa laminin receptor 7.

Sources cited
1
KARS1 biallelic variants cause developmental delay, progressive neurological/neurosensory abnormalities, white matter involvement; loss-of-function leads to p53 upregulation and tissue-specific apoptosis
PMID: 34172899
2
KARS1 is a component of the multi-tRNA synthetase complex assembled through leucine zipper motifs with auxiliary proteins
PMID: 39542129
3
KARS1 is upregulated by oscillatory shear stress and secreted via autophagy; secreted KARS1 promotes atherogenesis and acts as a pro-inflammatory paracrine molecule
PMID: 40169806
4
KARS1 pathogenic variants cause non-syndromic hearing impairment (DFNB89), with prelingual hearing loss progressing from moderate/severe to profound
PMID: 39062730
5
KARS1 has cytosolic and mitochondrial isoforms; biallelic variants cause congenital progressive microcephaly, seizures, oculo-motor dysfunction, and immuno-hematological problems
PMID: 33942428
6
KARS1 mutations are associated with B cell abnormalities including lymphopenia, hypogammaglobulinemia, and impaired mitochondrial function in B cells; recurrent infections occur in affected patients
PMID: 37770806
7
KARS1 membrane localization and interaction with 67-kDa laminin receptor correlate with epithelial ovarian cancer progression and metastasis
PMID: 35912727
Disease Associationsβ“˜24
leukoencephalopathy, progressive, infantile-onset, with or without deafnessOpen Targets
0.75Strong
deafness, congenital, and adult-onset progressive leukoencephalopathyOpen Targets
0.71Strong
autosomal recessive nonsyndromic hearing loss 89Open Targets
0.68Moderate
Autosomal recessive intermediate Charcot-Marie-Tooth disease type BOpen Targets
0.60Moderate
deafnessOpen Targets
0.53Moderate
Charcot-Marie-Tooth disease recessive intermediate BOpen Targets
0.48Moderate
Global developmental delayOpen Targets
0.46Moderate
hearing loss, autosomal recessiveOpen Targets
0.45Moderate
Sensorineural hearing impairmentOpen Targets
0.42Moderate
sensorineural hearing lossOpen Targets
0.42Moderate
Optic neuropathyOpen Targets
0.42Moderate
Abnormal cerebral white matter morphologyOpen Targets
0.42Moderate
Abnormal pyramidal signOpen Targets
0.42Moderate
Congenital sensorineural hearing impairmentOpen Targets
0.42Moderate
Progressive cerebellar ataxiaOpen Targets
0.42Moderate
leukodystrophyOpen Targets
0.37Weak
Central nervous system calcification - deafness - tubular acidosis - anemiaOpen Targets
0.37Weak
genetic disorderOpen Targets
0.36Weak
nonsyndromic genetic hearing lossOpen Targets
0.34Weak
autosomal dominant nonsyndromic hearing lossOpen Targets
0.34Weak
Charcot-Marie-Tooth disease, recessive intermediate BUniProt
Deafness, autosomal recessive, 89UniProt
Deafness, congenital, and adult-onset progressive leukoencephalopathyUniProt
Leukoencephalopathy, progressive, infantile-onset, with or without deafnessUniProt
Pathogenic Variants32
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)Pathogenic
Inborn genetic diseases|Abnormal pyramidal sign;Congenital sensorineural hearing impairment;Progressive cerebellar ataxia;Abnormal cerebral white matter morphology;Optic neuropathy|Autosomal recessive nonsyndromic hearing loss 89|KARS-related disorder|LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS|Deafness, congenital, and adult-onset progressive leukoencephalopathy|KARS1-related disorder|not provided|Leukoencephalopathy, progressive, infantile-onset, with or without deafness|Charcot-Marie-Tooth disease recessive intermediate B|Hearing loss, autosomal recessive
β˜…β˜…β˜†β˜†2025β†’ Residue 200
NM_005548.3(KARS1):c.1688A>T (p.Asn563Ile)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 563
NM_005548.3(KARS1):c.690A>T (p.Arg230Ser)Likely pathogenic
not provided|Leukoencephalopathy, progressive, infantile-onset, with or without deafness|not specified
β˜…β˜…β˜†β˜†2025β†’ Residue 230
NM_005548.3(KARS1):c.1676C>T (p.Thr559Met)Pathogenic
Inborn genetic diseases|not provided|Leukoencephalopathy, progressive, infantile-onset, with or without deafness
β˜…β˜…β˜†β˜†2024β†’ Residue 559
NM_005548.3(KARS1):c.122_125del (p.Lys41fs)Pathogenic
not provided|KARS1-related disorder|Leukoencephalopathy, progressive, infantile-onset, with or without deafness
β˜…β˜…β˜†β˜†2024β†’ Residue 41
NM_005548.3(KARS1):c.1514C>G (p.Pro505Arg)Likely pathogenic
not provided|Leukoencephalopathy, progressive, infantile-onset, with or without deafness
β˜…β˜…β˜†β˜†2024β†’ Residue 505
NM_005548.3(KARS1):c.829G>T (p.Gly277Ter)Pathogenic
Leukoencephalopathy, progressive, infantile-onset, with or without deafness
β˜…β˜†β˜†β˜†2025β†’ Residue 277
NM_005548.3(KARS1):c.1354del (p.Leu452fs)Pathogenic
Global developmental delay;Sensorineural hearing loss disorder;Hypotonia;Lactic acidosis|LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 452
NM_005548.3(KARS1):c.958C>T (p.Arg320Cys)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 320
NM_005548.3(KARS1):c.613C>G (p.Leu205Val)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 205
NM_005548.3(KARS1):c.682C>T (p.Arg228Cys)Pathogenic
Autosomal recessive nonsyndromic hearing loss 89
β˜…β˜†β˜†β˜†2024β†’ Residue 228
NM_005548.3(KARS1):c.346C>T (p.Gln116Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 116
NM_005548.3(KARS1):c.336T>G (p.Tyr112Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 89
β˜…β˜†β˜†β˜†2024β†’ Residue 112
NM_005548.3(KARS1):c.1420A>T (p.Lys474Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 474
NM_005548.3(KARS1):c.1540G>T (p.Glu514Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 514
NM_005548.3(KARS1):c.1328T>C (p.Leu443Pro)Likely pathogenic
Leukoencephalopathy, progressive, infantile-onset, with or without deafness
β˜…β˜†β˜†β˜†2023β†’ Residue 443
NM_005548.3(KARS1):c.238C>T (p.Arg80Cys)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 80
NM_005548.3(KARS1):c.1152_1177dup (p.Arg393fs)Likely pathogenic
KARS1-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 393
NM_005548.3(KARS1):c.1382T>G (p.Phe461Cys)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 461
NM_005548.3(KARS1):c.1696-2A>CPathogenic
Autosomal recessive nonsyndromic hearing loss 89
β˜…β˜†β˜†β˜†2022
View on ClinVar β†—
Related Genes
AARS1Protein interaction100%CARS1Protein interaction100%DARS1Protein interaction100%EPRS1Protein interaction100%GARS1Protein interaction100%HARS1Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Brain
84%
Lung
64%
Bone Marrow
57%
Ovary
55%
Liver
51%
Gene Interaction Network
Click a node to explore
KARS1AARS1CARS1DARS1EPRS1GARS1HARS1
PROTEIN STRUCTURE
Preparing viewer…
PDB6ILD Β· 1.88 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.88LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.67 [0.52–0.88]
RankingsWhere KARS1 stands among ~20K protein-coding genes
  • #1,374of 20,598
    Most Researched269 Β· top 10%
  • #1,745of 5,498
    Most Pathogenic Variants32
  • #7,859of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedKARS1
Sources retrieved23 papers
Response timeβ€”
πŸ“„ Sources
23β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases.
PMID: 39062730
Genes (Basel) Β· 2024
0.90
3
Assembly of the Human Multi-tRNA Synthetase Complex Through Leucine Zipper Motifs.
PMID: 39542129
J Mol Biol Β· 2024
0.80
4
Lysyl-tRNA synthetase 1 promotes atherogenesis via autophagy-related secretion and inflammation.
PMID: 40169806
Sci Rep Β· 2025
0.70
5
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.
PMID: 34172899
Genet Med Β· 2021
0.60