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DARS1 aspartyl-tRNA synthetase 1 [ Homo sapiens (human) ]

Gene ID: 1615, updated on 7-Jun-2020

Summary

Official Symbol
DARS1provided by HGNC
Official Full Name
aspartyl-tRNA synthetase 1provided by HGNC
Primary source
HGNC:HGNC:2678
See related
Ensembl:ENSG00000115866 MIM:603084
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DARS; HBSL; aspRS
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]
Expression
Ubiquitous expression in thyroid (RPKM 24.7), lymph node (RPKM 20.9) and 25 other tissues See more
Orthologs

Genomic context

See DARS1 in Genome Data Viewer
Location:
2q21.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (135905881..135985684, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (136664252..136743254, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene minichromosome maintenance complex component 6 Neighboring gene MANEAL pseudogene 1 Neighboring gene DARS antisense RNA 1 Neighboring gene uncharacterized LOC112268426 Neighboring gene C-X-C motif chemokine receptor 4 Neighboring gene heterogeneous nuclear ribonucleoprotein K pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify aspartyl-tRNA synthetase (DARS), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify aspartyl-tRNA synthetase (DARS), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Nef nef Tandem affinity purification and mass spectrometry analysis identify aspartyl-tRNA synthetase (DARS), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify aspartyl-tRNA synthetase (DARS), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
matrix gag HIV-1 MA is identified to have a physical interaction with aspartyl-tRNA synthetase (DARS) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC111579, DKFZp781B11202

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
RNA binding HDA PubMed 
RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aminoacylase activity TAS
Traceable Author Statement
more info
PubMed 
aspartate-tRNA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
aspartyl-tRNA aminoacylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex assembly TAS
Traceable Author Statement
more info
PubMed 
tRNA aminoacylation for protein translation TAS
Traceable Author Statement
more info
 
translation TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
aminoacyl-tRNA synthetase multienzyme complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aminoacyl-tRNA synthetase multienzyme complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
membrane HDA PubMed 
synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
aspartate--tRNA ligase, cytoplasmic
Names
aspartate tRNA ligase 1, cytoplasmic
aspartyl-tRNA synthetase, cytoplasmic
cell proliferation-inducing gene 40 protein
testicular tissue protein Li 192
NP_001280241.1
NP_001340.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034149.1 RefSeqGene

    Range
    5059..84804
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001293312.1NP_001280241.1  aspartate--tRNA ligase, cytoplasmic isoform 2

    See identical proteins and their annotated locations for NP_001280241.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AC011999, BC000629, BU615302, BX101357, CR749809, DA597505
    UniProtKB/Swiss-Prot
    P14868
    Conserved Domains (3) summary
    cd00776
    Location:74397
    AsxRS_core; Asx tRNA synthetase (AspRS/AsnRS) class II core domain. Assignment to class II aminoacyl-tRNA synthetases (aaRS) based upon its structure and the presence of three characteristic sequence motifs in the core domain. This family includes AsnRS as well as ...
    cd04320
    Location:158
    AspRS_cyto_N; AspRS_cyto_N: N-terminal, anticodon recognition domain of the type found in Saccharomyces cerevisiae and human cytoplasmic aspartyl-tRNA synthetase (AspRS). This domain is a beta-barrel domain (OB fold) involved in binding the tRNA anticodon stem-loop. ...
    pfam00152
    Location:75395
    tRNA-synt_2; tRNA synthetases class II (D, K and N)
  2. NM_001349.4NP_001340.2  aspartate--tRNA ligase, cytoplasmic isoform 1

    See identical proteins and their annotated locations for NP_001340.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC011999, BC000629, BU615302, BX101357, DA597505
    Consensus CDS
    CCDS2180.1
    UniProtKB/Swiss-Prot
    P14868
    UniProtKB/TrEMBL
    A0A140VJW5
    Related
    ENSP00000264161.4, ENST00000264161.9
    Conserved Domains (1) summary
    cl27743
    Location:3501
    tRNA-synt_2; tRNA synthetases class II (D, K and N)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    135905881..135985684 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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