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aars1 alanyl-tRNA synthetase 1 [ Danio rerio (zebrafish) ]

Gene ID: 324940, updated on 2-Nov-2024

Summary

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Official Symbol
aars1provided by ZNC
Official Full Name
alanyl-tRNA synthetase 1provided by ZNC
Primary source
ZFIN:ZDB-GENE-030131-3663
See related
Ensembl:ENSDARG00000069142 AllianceGenome:ZFIN:ZDB-GENE-030131-3663
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Danio rerio
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as
aars; im:7146712; wu:fc48h07; zgc:113920; si:ch211-223o1.6
Summary
Predicted to enable alanine-tRNA ligase activity and aminoacyl-tRNA editing activity. Predicted to be involved in alanyl-tRNA aminoacylation. Predicted to act upstream of or within tRNA aminoacylation and translation. Predicted to be located in cytoplasm. Predicted to be active in mitochondrion. Is expressed in several structures, including brain; digestive system; optic cup; pectoral fin bud; and swim bladder. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2N; developmental and epileptic encephalopathy 29; leukodystrophy; and trichothiodystrophy. Orthologous to human AARS1 (alanyl-tRNA synthetase 1). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs
human mouse all
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Genomic context

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See aars1 in Genome Data Viewer
Location:
chromosome: 18
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCz11 (GCF_000002035.6) 18 NC_007129.7 (18636273..18667451, complement)
105 previous assembly GRCz10 (GCF_000002035.5) 18 NC_007129.6 (18647207..18678385, complement)

Chromosome 18 - NC_007129.7Genomic Context describing neighboring genes Neighboring gene splicing factor 3b, subunit 3 Neighboring gene small nucleolar RNA SNORD111 Neighboring gene ST3 beta-galactoside alpha-2,3-sialyltransferase 2 Neighboring gene uncharacterized LOC110438089 Neighboring gene alanine--tRNA ligase, cytoplasmic-like

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • BioProject: PRJEB1986
  • Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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Related articles in PubMed

  1. Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities. Weterman MAJ, et al. Hum Mol Genet, 2018 Dec 1. PMID 30124830, Free PMC Article
  2. Nrf2 dictates the neuronal survival and differentiation of embryonic zebrafish harboring compromised alanyl-tRNA synthetase. Jin B, et al. Development, 2022 Sep 1. PMID 35929539
  3. Systematic expression profiling of neuropathy-related aminoacyl-tRNA synthetases in zebrafish during development. Giong HK, et al. Biochem Biophys Res Commun, 2022 Jan 8. PMID 34872004
  4. Utilising polymorphisms to achieve allele-specific genome editing in zebrafish. Capon SJ, et al. Biol Open, 2017 Jan 15. PMID 27895053, Free PMC Article
  5. Transcriptome analysis of zebrafish embryogenesis using microarrays. Mathavan S, et al. PLoS Genet, 2005 Aug. PMID 16132083, Free PMC Article

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

General gene information

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Markers

Homology

Clone Names

  • MGC113920, MGC158129, MGC198394, MGC198396

Gene Ontology Provided by ZFIN

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables RNA binding IEA
Inferred from Electronic Annotation
more info
  
enables alanine-tRNA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables alanine-tRNA ligase activity IEA
Inferred from Electronic Annotation
more info
  
enables aminoacyl-tRNA editing activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables aminoacyl-tRNA ligase activity IEA
Inferred from Electronic Annotation
more info
  
enables ligase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables nucleic acid binding IEA
Inferred from Electronic Annotation
more info
  
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables tRNA binding 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
  
acts_upstream_of_or_within alanyl-tRNA aminoacylation IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within tRNA aminoacylation IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within translation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
alanine--tRNA ligase, cytoplasmic
NP_001035124.2
NP_001037775.1
XP_005159107.1

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.

mRNA and Protein(s)

  1. NM_001040035.2 → NP_001035124.2  alanine--tRNA ligase, cytoplasmic isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' CDS and uses an alternate 3' terminal exon compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus and a distinct, shorter C-terminus compared to isoform 1.
    Source sequence(s)
    BX649641
    UniProtKB/TrEMBL
    A0A8M1N8I8, F1QBG7
    Related
    ENSDARP00000071166.4, ENSDART00000076695.6
    Conserved Domains (1) summary
    cd00673
    Location:7 → 254
    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 ...

  2. NM_001044310.2 → NP_001037775.1  alanine--tRNA ligase, cytoplasmic isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BX649641
    UniProtKB/TrEMBL
    A0A8M1N8X4, Q1LVL3
    Related
    ENSDARP00000120649.1, ENSDART00000136544.3
    Conserved Domains (4) summary
    PLN02900
    Location:31 → 984
    PLN02900; alanyl-tRNA synthetase
    cd00673
    Location:32 → 279
    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:911 → 982
    DHHA1; DHHA1 domain
    pfam07973
    Location:719 → 777
    tRNA_SAD; Threonyl and Alanyl tRNA synthetase second additional domain

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

Reference GRCz11 Primary Assembly

Genomic

  1. NC_007129.7 Reference GRCz11 Primary Assembly

    Range
    18636273..18667451 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005159050.5 → XP_005159107.1  alanine--tRNA ligase, cytoplasmic isoform X1

    UniProtKB/TrEMBL
    A0A8M2B5M3, Q1LVL2
    Related
    ENSDARP00000091174.4, ENSDART00000100401.6
    Conserved Domains (4) summary
    PLN02900
    Location:6 → 959
    PLN02900; alanyl-tRNA synthetase
    cd00673
    Location:7 → 254
    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:886 → 957
    DHHA1; DHHA1 domain
    pfam07973
    Location:694 → 752
    tRNA_SAD; Threonyl and Alanyl tRNA synthetase second additional domain

Reference GRCz11 ALT_DRER_TU_1

Genomic

  1. NW_018395020.1 Reference GRCz11 ALT_DRER_TU_1

    Range
    8410..39932 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version

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