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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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NARS1
asparaginyl-tRNA synthetase 1
Chromosome 18 Β· 18q21.31
NCBI Gene: 4677Ensembl: ENSG00000134440.13HGNC: HGNC:7643UniProt: O43776
109PubMed Papers
22Diseases
0Drugs
21Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
asparaginyl-tRNA aminoacylationcerebral cortex developmentprotein bindingcell migrationneurodevelopmental disorder with microcephaly, impaired language, and gait abnormalitiesneurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalitiesNeurodevelopmental disordercomplex neurodevelopmental disorder
✦AI Summary

NARS1 encodes asparaginyl-tRNA synthetase 1, a cytoplasmic enzyme that catalyzes the ATP-dependent attachment of asparagine to tRNA(Asn) in protein synthesis 1. The enzyme functions as a homodimer, with the dimerization interface being critical for catalytic activity and tRNA binding 2. Beyond its essential role in translation, NARS1 acts as a signaling molecule that can induce migration of CCR3-expressing cells and is required for proper proliferation of radial glial cells during cerebral cortex development 1. Pathogenic variants in NARS1 cause a spectrum of neurodevelopmental disorders with microcephaly, seizures, peripheral neuropathy, and ataxia 1. De novo heterozygous mutations can exert toxic gain-of-function effects, while biallelic mutations cause partial loss-of-function 1. Dominant variants demonstrate dominant-negative properties by forming defective heterodimers with wild-type subunits, thereby impairing overall enzymatic function 23. NARS1 is also associated with inherited peripheral neuropathies, including axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy 45. The severity of dominant-negative effects correlates with clinical phenotype complexity, with variants causing both central and peripheral nervous system features showing more severe dominant-negative properties than those causing isolated peripheral neuropathy 3.

Sources cited
1
NARS1 catalyzes ATP-dependent asparagine-tRNA attachment and causes neurodevelopmental disorders through gain-of-function and loss-of-function mechanisms
PMID: 32738225
2
NARS1 functions as homodimer and R534* mutation causes dominant-negative effects through heterodimer formation
PMID: 40914244
3
NARS1 variants show dominant-negative properties with severity correlating to clinical phenotype complexity
PMID: 40968538
4
NARS1 variants cause axonal Charcot-Marie-Tooth disease through loss-of-function effects
PMID: 38495304
5
NARS1 variants are associated with distal hereditary motor neuropathy
PMID: 38769024
Disease Associationsβ“˜22
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalitiesOpen Targets
0.76Strong
neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalitiesOpen Targets
0.68Moderate
Neurodevelopmental disorderOpen Targets
0.57Moderate
complex neurodevelopmental disorderOpen Targets
0.46Moderate
developmental disorder of mental healthOpen Targets
0.34Weak
mitochondrial complex 1 deficiency, nuclear type 35Open Targets
0.33Weak
mitochondrial complex I deficiencyOpen Targets
0.33Weak
alcohol drinkingOpen Targets
0.30Weak
emphysemaOpen Targets
0.09Suggestive
osteosarcomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
mixed connective tissue diseaseOpen Targets
0.07Suggestive
preeclampsiaOpen Targets
0.07Suggestive
cancerOpen Targets
0.06Suggestive
ShockOpen Targets
0.05Suggestive
migraine disorderOpen Targets
0.05Suggestive
lung cancerOpen Targets
0.05Suggestive
HeadacheOpen Targets
0.04Suggestive
rheumatoid arthritisOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalitiesUniProt
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalitiesUniProt
Pathogenic Variants21
NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter)Pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities|Neurodevelopmental disorder|not provided|Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities|Developmental disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 534
NM_004539.4(NARS1):c.1633C>T (p.Arg545Cys)Pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 545
NM_004539.4(NARS1):c.1564C>T (p.Arg522Ter)Pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
β˜…β˜…β˜†β˜†2023β†’ Residue 522
NM_004539.4(NARS1):c.1460C>T (p.Ala487Val)Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
β˜…β˜†β˜†β˜†2025β†’ Residue 487
NM_004539.4(NARS1):c.1208A>T (p.His403Leu)Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
β˜…β˜†β˜†β˜†2025β†’ Residue 403
NM_004539.4(NARS1):c.376C>T (p.Gln126Ter)Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
β˜…β˜†β˜†β˜†2025β†’ Residue 126
NM_004539.4(NARS1):c.901C>T (p.Gln301Ter)Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
β˜…β˜†β˜†β˜†2025β†’ Residue 301
NM_004539.4(NARS1):c.1315C>T (p.Arg439Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 439
NM_004539.4(NARS1):c.893A>G (p.Gln298Arg)Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
β˜…β˜†β˜†β˜†2024β†’ Residue 298
NM_004539.4(NARS1):c.1319T>C (p.Phe440Ser)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 440
NM_004539.4(NARS1):c.421+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_004539.4(NARS1):c.986G>A (p.Arg329Gln)Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
β˜…β˜†β˜†β˜†2022β†’ Residue 329
NM_004539.4(NARS1):c.676G>C (p.Val226Leu)Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
β˜…β˜†β˜†β˜†2022β†’ Residue 226
NM_004539.4(NARS1):c.50C>T (p.Thr17Met)Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
β˜…β˜†β˜†β˜†2021β†’ Residue 17
NM_004539.4(NARS1):c.965G>T (p.Arg322Leu)Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
β˜…β˜†β˜†β˜†2021β†’ Residue 322
NM_004539.4(NARS1):c.179A>C (p.Lys60Thr)Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
β˜…β˜†β˜†β˜†β†’ Residue 60
NM_004539.4(NARS1):c.713G>A (p.Arg238Gln)Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
β˜…β˜†β˜†β˜†β†’ Residue 238
NM_004539.4(NARS1):c.1022del (p.Glu341fs)Likely pathogenic
not provided
β˜†β˜†β˜†β˜†2025β†’ Residue 341
NM_004539.4(NARS1):c.251_252del (p.Glu84fs)Pathogenic
NARS1-related disorder
β˜†β˜†β˜†β˜†2023β†’ Residue 84
NM_004539.4(NARS1):c.203dup (p.Met69fs)Pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
β˜†β˜†β˜†β˜†2020β†’ Residue 69
View on ClinVar β†—
Related Genes
LARS1Protein interaction100%QARS1Protein interaction100%LARS2Protein interaction98%IARS2Protein interaction98%GATCProtein interaction96%YARS1Protein interaction94%
Tissue Expression6 tissues
Brain
100%
Heart
99%
Bone Marrow
50%
Lung
46%
Liver
42%
Ovary
36%
Gene Interaction Network
Click a node to explore
NARS1LARS1QARS1LARS2IARS2GATCYARS1
PROTEIN STRUCTURE
Preparing viewer…
PDB4ZYA Β· 1.65 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.92LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.72 [0.57–0.92]
RankingsWhere NARS1 stands among ~20K protein-coding genes
  • #4,368of 20,598
    Most Researched109 Β· top quartile
  • #2,141of 5,498
    Most Pathogenic Variants21
  • #8,425of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedNARS1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
PMID: 32738225
Am J Hum Genet Β· 2020
1.00
2
Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature.
PMID: 38652341
Neurogenetics Β· 2024
0.90
3
Asparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative properties.
PMID: 40968538
HGG Adv Β· 2026
0.80
4
Whole exome-based variant profiling and functional network characterization in neural tube defects.
PMID: 40613906
Childs Nerv Syst Β· 2025
0.70
5
Dominant-negative NARS1 R534βˆ— mutation causes wild-type subunit poisoning and heterodimer predominance in cells.
PMID: 40914244
J Biol Chem Β· 2025
0.60