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AARS2 alanyl-tRNA synthetase 2, mitochondrial [ Homo sapiens (human) ]

Gene ID: 57505, updated on 26-May-2016
Official Symbol
AARS2provided by HGNC
Official Full Name
alanyl-tRNA synthetase 2, mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:21022
See related
Ensembl:ENSG00000124608 HPRD:12397; MIM:612035; Vega:OTTHUMG00000014766
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
AARSL; LKENP; COXPD8; MTALARS; MT-ALARS
Summary
The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]
Orthologs
Location:
6p21.1
Exon count:
23
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (44297826..44313358, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (44266463..44281094, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 151B Neighboring gene t-complex-associated-testis-expressed 1 Neighboring gene uncharacterized LOC105375073 Neighboring gene spermatogenesis associated serine rich 1 Neighboring gene cell division cycle 5 like Neighboring gene microRNA 4642

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA1270

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
alanine-tRNA ligase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
amino acid binding IBA
Inferred from Biological aspect of Ancestor
more info
 
tRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
mitochondrial alanyl-tRNA aminoacylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial respiratory chain complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
tRNA modification IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
NOT cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
alanine--tRNA ligase, mitochondrial
Names
AARS2
alanine tRNA ligase 2, mitochondrial (putative)
alanyl-tRNA synthetase 2, mitochondrial (putative)
alanyl-tRNA synthetase like
probable alanyl-tRNA synthetase, mitochondrial
NP_065796.1

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_031952.1 RefSeqGene

    Range
    5001..19601
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020745.3NP_065796.1  alanine--tRNA ligase, mitochondrial

    See identical proteins and their annotated locations for NP_065796.1

    Status: REVIEWED

    Source sequence(s)
    AL353588, AL536467, BC131728, CN343332
    Consensus CDS
    CCDS34464.1
    UniProtKB/Swiss-Prot
    Q5JTZ9
    Related
    ENSP00000244571, OTTHUMP00000016528, ENST00000244571, OTTHUMT00000040741
    Conserved Domains (3) summary
    PLN02900
    Location:46983
    PLN02900; alanyl-tRNA synthetase
    cd00673
    Location:46280
    AlaRS_core; Alanyl-tRNA synthetase (AlaRS) class II core catalytic domain. AlaRS is a homodimer. It is responsible for the attachment of alanine to the 3' OH group of ribose of the appropriate tRNA. This domain is primarily responsible for ATP-dependent formation of ...
    cl08469
    Location:554778
    tRNA_SAD; Threonyl and Alanyl tRNA synthetase second additional domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

    Range
    44297826..44313358 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514764.1XP_011513066.1  

    Conserved Domains (3) summary
    PLN02900
    Location:46932
    PLN02900; alanyl-tRNA synthetase
    cd00673
    Location:46280
    AlaRS_core; Alanyl-tRNA synthetase (AlaRS) class II core catalytic domain. AlaRS is a homodimer. It is responsible for the attachment of alanine to the 3' OH group of ribose of the appropriate tRNA. This domain is primarily responsible for ATP-dependent formation of ...
    cl08469
    Location:554778
    tRNA_SAD; Threonyl and Alanyl tRNA synthetase second additional domain
  2. XM_005249245.2XP_005249302.1  

    Conserved Domains (3) summary
    PLN02900
    Location:46886
    PLN02900; alanyl-tRNA synthetase
    cd00673
    Location:46249
    AlaRS_core; Alanyl-tRNA synthetase (AlaRS) class II core catalytic domain. AlaRS is a homodimer. It is responsible for the attachment of alanine to the 3' OH group of ribose of the appropriate tRNA. This domain is primarily responsible for ATP-dependent formation of ...
    cl08469
    Location:457681
    tRNA_SAD; Threonyl and Alanyl tRNA synthetase second additional domain

RNA

  1. XR_241907.2 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    44270095..44284719 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)