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GeneE
7 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.
DARS1
aspartyl-tRNA synthetase 1
Chromosome 2 Β· 2q21.3
NCBI Gene: 1615Ensembl: ENSG00000115866.12HGNC: HGNC:2678UniProt: A0A140VJW5
217PubMed Papers
21Diseases
0Drugs
11Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytosolmembraneRNA bindingextracellular exosomehypomyelination with brain stem and spinal cord involvement and leg spasticityPancreatic pseudocystatrial fibrillationAbnormal brain morphology
✦AI Summary

DARS1 (aspartyl-tRNA synthetase 1) catalyzes the aminoacylation of aspartate to its cognate tRNA through a two-step reaction: amino acid activation by ATP to form aspartyl-AMP, followed by transfer to the tRNA acceptor end 1. DARS1 functions as a component of the human multi-tRNA synthetase complex (MSC), where it forms a dimeric subcomplex linked to QARS1-RARS1-AIMP1-AIMP2-KARS1 complexes through leucine zipper-mediated interactions 1. This aminoacyl-tRNA synthetase is essential for protein translation in the cytoplasm and cytosolic compartments [GO annotations]. Recessive mutations in DARS1 cause Hypomyelination with Brainstem and Spinal cord involvement and Leg spasticity (HBSL), a leukodystrophy characterized by motor regression, spasticity, ataxia, seizures, and intellectual disabilities with typical childhood onset 2. Homozygous DARS1 deletion is embryonically lethal, while hypomorphic mutations demonstrate that HBSL pathology extends beyond neurological dysfunction to include developmental delay and metabolic abnormalities affecting energy metabolism and peripheral organs 2. Additionally, the DARS1 locus at 2q21.3 shows evidence of positive selection in East Asians from Neanderthal introgression, with variants affecting DARS1 and its antisense RNA (DARS1-AS1) expression associated with immune cell function and white blood cell counts 3. Currently, no approved treatments exist for DARS1-associated HBSL.

Sources cited
1
DARS1 catalyzes aminoacylation of aspartate to tRNA and forms a dimeric subcomplex within the human multi-tRNA synthetase complex through leucine zipper interactions with AIMP proteins
PMID: 39542129
2
Recessive DARS1 mutations cause HBSL leukodystrophy with developmental delay, motor regression, spasticity, and metabolic dysfunction; homozygous deletion is embryonically lethal
PMID: 35357600
3
DARS1 locus variants show positive selection in East Asians and affect DARS1/DARS1-AS1 expression in immune cells, associated with white blood cell counts
PMID: 40063818
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
hypomyelination with brain stem and spinal cord involvement and leg spasticityOpen Targets
0.77Strong
Pancreatic pseudocystOpen Targets
0.29Weak
atrial fibrillationOpen Targets
0.28Weak
Abnormal brain morphologyOpen Targets
0.27Weak
dental cariesOpen Targets
0.26Weak
tooth hard tissue diseaseOpen Targets
0.25Weak
Respiratory insufficiencyOpen Targets
0.22Weak
physical activityOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
hypertension, pregnancy-inducedOpen Targets
0.11Weak
systemic lupus erythematosusOpen Targets
0.10Suggestive
gastric cancerOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.08Suggestive
posterior cortical atrophyOpen Targets
0.07Suggestive
acute myeloid leukemiaOpen Targets
0.07Suggestive
polycystic ovary syndromeOpen Targets
0.06Suggestive
MenorrhagiaOpen Targets
0.05Suggestive
Hypomyelination with brainstem and spinal cord involvement and leg spasticityUniProt
Pathogenic Variants11
NM_001349.4(DARS1):c.735C>G (p.Tyr245Ter)Likely pathogenic
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
β˜…β˜†β˜†β˜†2024β†’ Residue 245
NM_001349.4(DARS1):c.1480C>G (p.Arg494Gly)Likely pathogenic
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
β˜…β˜†β˜†β˜†2024β†’ Residue 494
NM_001349.4(DARS1):c.821C>G (p.Ala274Gly)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 274
NM_001349.4(DARS1):c.1481G>A (p.Arg494His)Likely pathogenic
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
β˜…β˜†β˜†β˜†2020β†’ Residue 494
NM_001349.4(DARS1):c.1129G>C (p.Gly377Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2016β†’ Residue 377
NM_001349.4(DARS1):c.389G>C (p.Cys130Ser)Likely pathogenic
Abnormal brain morphology
β˜…β˜†β˜†β˜†β†’ Residue 130
NM_001349.4(DARS1):c.1099G>T (p.Asp367Tyr)Pathogenic
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
β˜†β˜†β˜†β˜†2013β†’ Residue 367
NM_001349.4(DARS1):c.821C>T (p.Ala274Val)Pathogenic
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
β˜†β˜†β˜†β˜†2013β†’ Residue 274
NM_001349.4(DARS1):c.766A>C (p.Met256Leu)Pathogenic
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
β˜†β˜†β˜†β˜†2013β†’ Residue 256
NM_001349.4(DARS1):c.1379G>A (p.Arg460His)Pathogenic
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
β˜†β˜†β˜†β˜†2013β†’ Residue 460
NM_001349.4(DARS1):c.839A>T (p.His280Leu)Pathogenic
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
β˜†β˜†β˜†β˜†β†’ Residue 280
View on ClinVar β†—
Related Genes
AARS1Protein interaction100%KARS1Protein interaction100%MARS1Protein interaction100%QARS1Protein interaction100%AIMP1Protein interaction100%EEF1E1Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Brain
96%
Ovary
68%
Liver
63%
Bone Marrow
58%
Lung
54%
Gene Interaction Network
Click a node to explore
DARS1AARS1KARS1MARS1QARS1AIMP1EEF1E1
PROTEIN STRUCTURE
Preparing viewer…
PDB4J15 Β· 2.24 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.02LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.72 [0.51–1.02]
RankingsWhere DARS1 stands among ~20K protein-coding genes
  • #1,907of 20,598
    Most Researched217 Β· top 10%
  • #2,734of 5,498
    Most Pathogenic Variants11
  • #10,067of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedDARS1
Sources retrieved7 papers
Response timeβ€”
πŸ“„ Sources
7β–Ό
1
Assembly of the Human Multi-tRNA Synthetase Complex Through Leucine Zipper Motifs.
PMID: 39542129
J Mol Biol Β· 2024
1.00
2
Multiomics analyses reveal
PMID: 37540752
Sci Adv Β· 2023
0.86
3
Developmental delay and late onset HBSL pathology in hypomorphic Dars1
PMID: 35357600
Neurochem Res Β· 2022
0.71
4
Neanderthal adaptive introgression shaped
PMID: 40063818
Proc Natl Acad Sci U S A Β· 2025
0.57
5
Correction to: Developmental delay and late onset HBSL pathology in hypomorphic Dars1
PMID: 35449376
Neurochem Res Β· 2022
0.43