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 have anion binding activity; catalytic activity, acting on a tRNA; and tRNA binding activity. Predicted to be involved in mitochondrial alanyl-tRNA aminoacylation and tRNA modification. Predicted to localize to mitochondrion. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2N and early infantile epileptic encephalopathy 29. Orthologous to human AARS1 (alanyl-tRNA synthetase 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

8 figures from 3 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:113920 (1 image)
IMAGE:7151191 (1 image)
IMAGE:7146712 (1 image)

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
		Trichothiodystrophy 8, nonphotosensitive	619691
		?Leukoencephalopathy, hereditary diffuse, with spheroids 2	619661

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
Family	IPR050058	Alanine--tRNA ligase
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
Homologous_superfamily	IPR045864	Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL)

Domain Details Per Protein

Protein	Length	Alanine--tRNA ligase	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	Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL)	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:F1QBG7 InterPro	433
UniProtKB:Q1LVL2 InterPro	966
UniProtKB:Q1LVL3 InterPro	991

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	aars-202 (1) Ensembl	Ensembl	3,617 nt	Select Tool
mRNA	aars-203 (1) Ensembl	Ensembl	3,688 nt	Select Tool
mRNA	aars1-201 (1) Ensembl	Ensembl	1,302 nt	Select Tool ZFIN BLAST
mRNA	aars1-204 (1) Ensembl	Ensembl	3,460 nt	Select Tool ZFIN BLAST

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