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Gene

aars1

ID
ZDB-GENE-030131-3663
Name
alanyl-tRNA synthetase 1
Symbol
aars1 Nomenclature History
Previous Names
  • aars
  • im:7146712
  • si:ch211-223o1.6
  • wu:fc48h07
  • zgc:113920 (1)
Type
protein_coding_gene
Location
Chr: 18 Mapping Details/Browsers
Description
Predicted to enable several functions, including ATP binding activity; catalytic activity, acting on a tRNA; and tRNA binding activity. Predicted to be involved in alanyl-tRNA aminoacylation and tRNA modification. Predicted to act upstream of or within tRNA aminoacylation and translation. Predicted to be located in cytoplasm. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2N and developmental and epileptic encephalopathy 29. Orthologous to human AARS1 (alanyl-tRNA synthetase 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
4 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Weterman et al., 2018
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With aars1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Charcot-Marie-Tooth disease axonal type 2N Alliance Charcot-Marie-Tooth disease, axonal, type 2N 613287
developmental and epileptic encephalopathy 29 Alliance Developmental and epileptic encephalopathy 29 616339
Associated With aars1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR003156 DHHA1 domain
Domain IPR012947 Threonyl/alanyl tRNA synthetase, SAD
Domain IPR018164 Alanyl-tRNA synthetase, class IIc, N-terminal
Domain IPR018165 Alanyl-tRNA synthetase, class IIc, core domain
Family IPR002318 Alanine-tRNA ligase, class IIc
Family IPR023033 Alanine-tRNA ligase, eukaryota/bacteria
Homologous_superfamily IPR009000 Translation protein, beta-barrel domain superfamily
Homologous_superfamily IPR018162 Alanine-tRNA ligase, class IIc, anti-codon-binding domain superfamily
Homologous_superfamily IPR018163 Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain superfamily
Domain Details Per Protein
Protein Length Alanine-tRNA ligase, class IIc Alanine-tRNA ligase, class IIc, anti-codon-binding domain superfamily Alanine-tRNA ligase, eukaryota/bacteria Alanyl-tRNA synthetase, class IIc, core domain Alanyl-tRNA synthetase, class IIc, N-terminal DHHA1 domain Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain superfamily Threonyl/alanyl tRNA synthetase, SAD Translation protein, beta-barrel domain superfamily
UniProtKB:Q6IQM6 757
UniProtKB:Q1LVL2 966
UniProtKB:A1A5T1 966
UniProtKB:A0A2R8RMW6 966
UniProtKB:Q1LVL3 991
UniProtKB:F1QBG7 433
UniProtKB:A0A286YAH8 966
UniProtKB:Q4V983 433
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations