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DARS (gene)

From Wikipedia, the free encyclopedia

DARS1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesDARS1, HBSL, aspRS, aspartyl-tRNA synthetase, aspartyl-tRNA synthetase 1, DARS
External IDsOMIM: 603084; MGI: 2442544; HomoloGene: 1032; GeneCards: DARS1; OMA:DARS1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001349
NM_001293312

NM_145507
NM_177445

RefSeq (protein)

NP_001280241
NP_001340

NP_663482
NP_803228

Location (UCSC)Chr 2: 135.91 – 135.99 MbChr 1: 128.29 – 128.35 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Aspartyl-tRNA synthetase, cytoplasmic is an enzyme that in humans is encoded by the DARS gene.[5][6]

Aspartyl-tRNA synthetase (DARS) is part of a multienzyme complex of aminoacyl-tRNA synthetases. Aspartyl-tRNA synthetase charges its cognate tRNA with aspartate during protein biosynthesis.[6]

Clinical significance

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Mutations in DARS have been identified as the cause of leukoencephalopathy, hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL).[7]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000115866Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026356Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Jacobo-Molina A, Peterson R, Yang DC (Oct 1989). "cDNA sequence, predicted primary structure, and evolving amphiphilic helix of human aspartyl-tRNA synthetase". J Biol Chem. 264 (28): 16608–12. doi:10.1016/S0021-9258(19)84749-X. PMID 2674137.
  6. ^ a b "Entrez Gene: DARS aspartyl-tRNA synthetase".
  7. ^ Taft RJ, Vanderver A, Leventer RJ, Damiani SA, Simons C, Grimmond SM, Miller D, Schmidt J, Lockhart PJ, Pope K, Ru K, Crawford J, Rosser T, de Coo IF, Juneja M, Verma IC, Prabhakar P, Blaser S, Raiman J, Pouwels PJ, Bevova MR, Abbink TE, van der Knaap MS, Wolf NI (2013). "Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity". American Journal of Human Genetics. 92 (5): 774–780. doi:10.1016/j.ajhg.2013.04.006. PMC 3644624. PMID 23643384.

Further reading

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