DARS1 - aspartyl-tRNA synthetase 1 Gene

Homo sapiens

Also known as DARS; HBSL; aspRS

Gene ID: 1615 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Cellular Component GO Annotation	Evidence	Reference	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-synt_2

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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)	≥95%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03532	DARS1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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