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NARS2 asparaginyl-tRNA synthetase 2, mitochondrial [ Homo sapiens (human) ]

Gene ID: 79731, updated on 22-Aug-2021

Summary

Official Symbol
NARS2provided by HGNC
Official Full Name
asparaginyl-tRNA synthetase 2, mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:26274
See related
Ensembl:ENSG00000137513 MIM:612803
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
SLM5; asnRS; DFNB94
Summary
This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of asparagine to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 24 (COXPD24). [provided by RefSeq, Mar 2015]
Expression
Ubiquitous expression in kidney (RPKM 4.7), thyroid (RPKM 3.7) and 25 other tissues See more
Orthologs
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Genomic context

See NARS2 in Genome Data Viewer
Location:
11q14.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (78435968..78574864, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (78147014..78285909, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene GRB2 associated binding protein 2 Neighboring gene zinc finger protein 75C, pseudogene Neighboring gene long intergenic non-protein coding RNA 2728 Neighboring gene uncharacterized LOC105369403 Neighboring gene Sharpr-MPRA regulatory region 10369 Neighboring gene uncharacterized LOC101928896 Neighboring gene RNA, U6 small nuclear 311, pseudogene Neighboring gene COP9 signalosome subunit 8 pseudogene 3

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
matrix gag HIV-1 MA is identified to have a physical interaction with asparaginyl-tRNA synthetase 2, mitochondrial (NARS2) 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

  • FLJ23441

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables asparagine-tRNA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables asparagine-tRNA ligase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables nucleic acid binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in asparaginyl-tRNA aminoacylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in asparaginyl-tRNA aminoacylation ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
probable asparagine--tRNA ligase, mitochondrial
Names
asparagine tRNA ligase 2, mitochondrial (putative)
asparaginyl-tRNA synthetase 2, mitochondrial (putative)
deafness, autosomal recessive 94
probable asparaginyl-tRNA synthetase, mitochondrial
NP_001230180.1
NP_078954.4
XP_011543555.1
XP_016873791.1
XP_016873792.1
XP_016873793.1

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.

Genomic

  1. NG_042046.1 RefSeqGene

    Range
    5001..143904
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001243251.2NP_001230180.1  probable asparagine--tRNA ligase, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001230180.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK027094, AK056980, AP003110, AW968557, BP196275, DB565980
    Consensus CDS
    CCDS58164.1
    UniProtKB/Swiss-Prot
    Q96I59
    UniProtKB/TrEMBL
    B3KPX5, Q9H5H1
    Related
    ENSP00000432635.1, ENST00000528850.5
    Conserved Domains (1) summary
    cl00268
    Location:1246
    class_II_aaRS-like_core; Class II tRNA amino-acyl synthetase-like catalytic core domain. Class II amino acyl-tRNA synthetases (aaRS) share a common fold and generally attach an amino acid to the 3' OH of ribose of the appropriate tRNA. PheRS is an exception in that it attaches ...
  2. NM_024678.6NP_078954.4  probable asparagine--tRNA ligase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_078954.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AW968557, BC007800, BP199309, DB565980
    Consensus CDS
    CCDS8261.1
    UniProtKB/Swiss-Prot
    Q96I59
    Related
    ENSP00000281038.5, ENST00000281038.10
    Conserved Domains (3) summary
    PRK03932
    Location:27474
    asnC; asparaginyl-tRNA synthetase; Validated
    cd00776
    Location:133473
    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 ...
    cd04318
    Location:44120
    EcAsnRS_like_N; EcAsnRS_like_N: N-terminal, anticodon recognition domain of the type found in Escherichia coli asparaginyl-tRNA synthetase (AsnRS) and, in Arabidopsis thaliana and Saccharomyces cerevisiae mitochondrial (mt) AsnRS. This domain is a beta-barrel domain (OB ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    78435968..78574864 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018304.2XP_016873793.1  probable asparagine--tRNA ligase, mitochondrial isoform X4

  2. XM_017018303.1XP_016873792.1  probable asparagine--tRNA ligase, mitochondrial isoform X3

    UniProtKB/Swiss-Prot
    Q96I59
    Conserved Domains (1) summary
    cl00268
    Location:1246
    class_II_aaRS-like_core; Class II tRNA amino-acyl synthetase-like catalytic core domain. Class II amino acyl-tRNA synthetases (aaRS) share a common fold and generally attach an amino acid to the 3' OH of ribose of the appropriate tRNA. PheRS is an exception in that it attaches ...
  3. XM_011545253.2XP_011543555.1  probable asparagine--tRNA ligase, mitochondrial isoform X1

    Conserved Domains (3) summary
    PRK03932
    Location:27465
    asnC; asparaginyl-tRNA synthetase; Validated
    cd00776
    Location:133464
    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 ...
    cd04318
    Location:44120
    EcAsnRS_like_N; EcAsnRS_like_N: N-terminal, anticodon recognition domain of the type found in Escherichia coli asparaginyl-tRNA synthetase (AsnRS) and, in Arabidopsis thaliana and Saccharomyces cerevisiae mitochondrial (mt) AsnRS. This domain is a beta-barrel domain (OB ...
  4. XM_017018302.2XP_016873791.1  probable asparagine--tRNA ligase, mitochondrial isoform X2

RNA

  1. XR_001747966.2 RNA Sequence

  2. XR_001747965.2 RNA Sequence

  3. XR_001747964.2 RNA Sequence

  4. XR_001747963.2 RNA Sequence

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