NARS1 asparaginyl-tRNA synthetase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NARS1provided by HGNC
Official Full Name: asparaginyl-tRNA synthetase 1provided by HGNC
Primary source: HGNC:HGNC:7643
See related: Ensembl:ENSG00000134440 MIM:108410; AllianceGenome:HGNC:7643
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NARS; ASNRS; NEDMILG; NEDMILEG
Summary: Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Asparaginyl-tRNA synthetase is localized to the cytoplasm and belongs to the class II family of tRNA synthetases. The N-terminal domain represents the signature sequence for the eukaryotic asparaginyl-tRNA synthetases. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 64.3), kidney (RPKM 57.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18q21.31

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (57600656..57621836, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (57801009..57822190, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (55267888..55289068, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.
Title: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.
The chemokine activity of UNE-N was significantly reduced by suppressing CCR3 expression with CCR3-targeting siRNA, and the loop3 region of UNE-N was shown to interact mainly with the extracellular domains of CCR3 in nuclear magnetic resonance perturbation experiments. Based on these results, evolutionarily acquired UNE-N elicits chemokine activities that would promote NRS-CCR3-mediated proinflammatory signaling in ILD.
Title: Unique N-terminal extension domain of human asparaginyl-tRNA synthetase elicits CCR3-mediated chemokine activity.
Study shows that ERO1L and NARS expression level are up-regulated in primary lung adenocarcinoma and identifies them with a potential to promote tumor metastasis and growth of cancer cells.
Title: Identification and Characterization of Potential Biomarkers by Quantitative Tissue Proteomics of Primary Lung Adenocarcinoma.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities MedGen: C5436783 OMIM: 619091 GeneReviews: Not available	not available
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities MedGen: C5436788 OMIM: 619092 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	HIV-1 Rev interacting protein, asparaginyl-tRNA synthetase (NARS), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with NARS is decreased by RRE	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

T16130 (e-PCR)
- UniSTS:78125

A002F37 (e-PCR)
- UniSTS:15538

D18S925E (e-PCR)
- UniSTS:46772

D18S373E (e-PCR)
- UniSTS:473041

RH35852 (e-PCR)
- UniSTS:75770

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables CCR3 chemokine receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables asparagine-tRNA ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables asparagine-tRNA ligase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables asparagine-tRNA ligase activity	TAS Traceable Author Statement more info
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in asparaginyl-tRNA aminoacylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in asparaginyl-tRNA aminoacylation	IDA Inferred from Direct Assay more info	PubMed
involved_in cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in cerebral cortex development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tRNA aminoacylation for protein translation	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed

General protein information

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Preferred Names: asparagine--tRNA ligase, cytoplasmic

Names: asparagine tRNA ligase 1, cytoplasmic; asparaginyl-tRNA synthetase, cytoplasmic

NP_004530.1

EC 6.1.1.22

XP_005266757.1

EC 6.1.1.22

XP_054174635.1

EC 6.1.1.22

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_004539.4 → NP_004530.1 asparagine--tRNA ligase, cytoplasmic

See identical proteins and their annotated locations for NP_004530.1

Status: VALIDATED

Source sequence(s)

AC100847, BC001687, DC302277, U79254

Consensus CDS

CCDS32837.1

UniProtKB/Swiss-Prot

B4DG16, O43776, Q53GU6

Related

ENSP00000256854.4, ENST00000256854.10

Conserved Domains (1) summary

COG0017
Location:125 → 548

AsnS; Aspartyl/asparaginyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000018.10 Reference GRCh38.p14 Primary Assembly

Range

57600656..57621836 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005266700.3 → XP_005266757.1 asparagine--tRNA ligase, cytoplasmic isoform X1

See identical proteins and their annotated locations for XP_005266757.1

Conserved Domains (3) summary

COG0017
Location:124 → 547

AsnS; Aspartyl/asparaginyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]

cd00776
Location:224 → 543

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 ...

cd04323
Location:126 → 208

AsnRS_cyto_like_N; AsnRS_cyto_like_N: N-terminal, anticodon recognition domain of the type found in human and Saccharomyces cerevisiae cytoplasmic asparaginyl-tRNA synthetase (AsnRS), in Brugia malayai AsnRs and, in various putative bacterial AsnRSs. This domain is a ...