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AARS1 alanyl-tRNA synthetase 1 [ Homo sapiens (human) ]

Gene ID: 16, updated on 6-May-2021

Summary

Official Symbol
AARS1provided by HGNC
Official Full Name
alanyl-tRNA synthetase 1provided by HGNC
Primary source
HGNC:HGNC:20
See related
Ensembl:ENSG00000090861 MIM:601065
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
AARS; CMT2N; DEE29; EIEE29
Summary
The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons. They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in brain (RPKM 59.4), thyroid (RPKM 56.4) and 25 other tissues See more
Orthologs
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Genomic context

See AARS1 in Genome Data Viewer
Location:
16q22.1
Exon count:
21
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (70252295..70289509, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (70286201..70323409, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene SMG1 pseudogene 7 Neighboring gene exosome component 6 Neighboring gene RNA, 7SL, cytoplasmic 279, pseudogene Neighboring gene Sharpr-MPRA regulatory region 7868 Neighboring gene DEAD-box helicase 19B Neighboring gene DDX19A divergent transcript

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?

Phenotypes

Associated conditions

Description Tests
Charcot-Marie-Tooth disease, type 2N
MedGen: C2750090 OMIM: 613287 GeneReviews: Not available
Compare labs
Epileptic encephalopathy, early infantile, 29
MedGen: C4225361 OMIM: 616339 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2018-01-11)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2018-01-11)

ClinGen Genome Curation Page

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables Ser-tRNA(Ala) hydrolase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables alanine-tRNA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables alanine-tRNA ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables amino acid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables aminoacyl-tRNA editing activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables aminoacyl-tRNA editing activity IDA
Inferred from Direct Assay
more info
PubMed 
enables tRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables translation regulator activity IEA
Inferred from Electronic Annotation
more info
 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in alanyl-tRNA aminoacylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in alanyl-tRNA aminoacylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in aminoacyl-tRNA metabolism involved in translational fidelity IEA
Inferred from Electronic Annotation
more info
 
involved_in cerebellar Purkinje cell layer development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in neuromuscular process controlling balance IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cytoplasmic translational fidelity IEA
Inferred from Electronic Annotation
more info
 
involved_in tRNA aminoacylation for protein translation TAS
Traceable Author Statement
more info
 
involved_in tRNA modification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in tRNA modification ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in tRNA processing TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm TAS
Traceable Author Statement
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in membrane HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
alanine--tRNA ligase, cytoplasmic
Names
alaRS
alanine tRNA ligase 1, cytoplasmic
alanyl-tRNA synthetase, cytoplasmic
renal carcinoma antigen NY-REN-42
NP_001596.2

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_023191.1 RefSeqGene

    Range
    5001..42116
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_359

mRNA and Protein(s)

  1. NM_001605.3NP_001596.2  alanine--tRNA ligase, cytoplasmic

    See identical proteins and their annotated locations for NP_001596.2

    Status: REVIEWED

    Source sequence(s)
    AC009060, BC011451, BG764123, BU178772, D32050
    Consensus CDS
    CCDS32474.1
    UniProtKB/Swiss-Prot
    P49588
    Related
    ENSP00000261772.8, ENST00000261772.13
    Conserved Domains (5) summary
    PLN02900
    Location:6961
    PLN02900; alanyl-tRNA synthetase
    cd00673
    Location:7254
    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 ...
    pfam02272
    Location:886955
    DHHA1; DHHA1 domain
    cl02787
    Location:495531
    Translation_Factor_II_like; Domain II of Elongation factor Tu (EF-Tu)-like proteins
    cl08469
    Location:525753
    tRNA_SAD; Threonyl and Alanyl tRNA synthetase second additional domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    70252295..70289509 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_933220.3 RNA Sequence

    Related
    ENST00000676168.1
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