DARS1 - aspartyl-tRNA synthetase 1 Gene

Also Known as DARS; HBSL; aspRS

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1615

About DARS1

Cytogenetic location: 2q21.3 Genomic coordinates (GRCh38): 2:135,905,881-135,985,684 (from NCBI)

This gene has 11 transcripts (splice variants), 211 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 24.7), lymph node (RPKM 20.9) and 25 other tissues.

Summary

This gene encodes a member of a multienzyme complex that functions in mediating the attachment of Amino acids to their cognate tRNAs. The encoded protein ligates L-aspartate to tRNA(Asp). Mutations in this gene have been found in patients showing hypomyelination with brainstem and spinal cord involvement and leg spasticity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

DARS1 Products (2)

mRNA Protein Name
NM_001293312.1 NP_001280241.1 aspartate--tRNA ligase, cytoplasmic isoform 2
NM_001349.4 NP_001340.2 aspartate--tRNA ligase, cytoplasmic isoform 1

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
Cellular Component GO Annotation Evidence References Source
part of aminoacyl-tRNA synthetase multienzyme complex IDA
IDA: Inferred from direct assay
19131329 GOA
located in cytosol IDA
IDA: Inferred from direct assay
19289464 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DARS1 Protein Structure

tRNA_anti-codon

tRNA_anti-codon: OB-fold nucleic acid binding domain (60 - 145)

tRNA-synt_2

tRNA-synt_2: tRNA synthetases class II (D, K and N) (175 - 495)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 501 a.a.
Protein Preferred Names Protein Names

aspartate--tRNA ligase, cytoplasmic

  • aspartate tRNA ligase 1, cytoplasmic

DARS1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
DARS1 P14868 AIMP2 Homo sapiens Q13155
Validated Y2H
32296183
Intra
DARS1 P14868 AIMP2 Homo sapiens Q13155
Validated Y2H
25416956
Intra
DARS1 P14868 AIMP2 Homo sapiens Q13155
Y2H Array
25416956
Intra
DARS1 P14868 AIMP2 Homo sapiens Q13155
Y2H Prey Pooling
25416956
Intra
DARS1 P14868 AIMP2 Homo sapiens Q13155
Y2H Pooling
16189514
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant DARS1 Proteins

Cat. No. Product Name Accession Purity
HY-P75309 DARS Protein, Human (His) P14868 (M1-P501) ≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity

  • HBSL

  • Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity

  • Aspartyl-Trna Synthetase Deficiency
Spasticity
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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS03532 DARS1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20900 Dars1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27417 Dars1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus DARS1 MGD MGI:2442544
Felis catus DARS1 VGNC VGNC:61341
Macaca mulatta DARS1 VGNC VGNC:84226
Canis familiaris DARS1 VGNC VGNC:39774
Bos taurus DARS1 VGNC VGNC:27881
Rattus norvegicus DARS1 RGD RGD:621167
Others DARS1 NCBI