AARS alanyl-tRNA synthetase [Homo sapiens] - Gene

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Summary

Official Symbol: AARSprovided by HGNC
Official Full Name: alanyl-tRNA synthetaseprovided by HGNC
Primary source: HGNC:20
See related: Ensembl:ENSG00000090861; HPRD:03042; MIM:601065; Vega:OTTHUMG00000177042
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: CMT2N
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]

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Genomic context

Location :: 16q22

Sequence :: Chromosome: 16; NC_000016.9 (70286297..70323412, complement)

See AARS in Epigenomics, MapViewer

Chromosome 16 - NC_000016.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Methylation-mediated deamination of a CpG dinucleotide gives rise to the recurrent p.Arg329His alanyl-tRNA synthetase mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).
Title: A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).
We show here that mutations in AARS2 cause perinatal or infantile cardiomyopathy with near-total combined mitochondrial respiratory chain deficiency in the heart.
Title: Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
cytoplasmic Alanyl-tRNA synthetase may have a role in dominant axonal Charcot-Marie-Tooth disease, as shown by its mutation in a major determinant for binding and aminoacylation
Title: A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.

Submit: New GeneRIF Correction

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Charcot-Marie-Tooth disease, axonal, type 2N

MIM: 613287

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_001596.1	NP_066944.1	EEF1B2	BIND	PubMed	AlaRS interacts with an unspecified isoform of EF-1-beta.
P49588	P24534	EEF1B2	HPRD	PubMed
BioGRID:106534	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
alanine-tRNA ligase activity	IEA Inferred from Electronic Annotation more info
amino acid binding	IEA Inferred from Electronic Annotation more info
aminoacyl-tRNA editing activity	IEA Inferred from Electronic Annotation more info
ligase activity	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
tRNA binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
alanyl-tRNA aminoacylation	IEA Inferred from Electronic Annotation more info
cerebellar Purkinje cell layer development	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum unfolded protein response	IEA Inferred from Electronic Annotation more info
gene expression	TAS Traceable Author Statement more info
hair follicle development	IEA Inferred from Electronic Annotation more info
negative regulation of neuron apoptosis	IEA Inferred from Electronic Annotation more info
neuromuscular process controlling balance	IEA Inferred from Electronic Annotation more info
protein folding	IEA Inferred from Electronic Annotation more info
response to amino acid stimulus	IEA Inferred from Electronic Annotation more info
skin development	IEA Inferred from Electronic Annotation more info
tRNA aminoacylation for protein translation	TAS Traceable Author Statement more info
tRNA modification	IEA Inferred from Electronic Annotation more info
tRNA processing	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info
cytosol	TAS Traceable Author Statement more info
soluble fraction	TAS Traceable Author Statement more info	PubMed

General protein information

Preferred Names: alanine--tRNA ligase, cytoplasmic

Names: alanine--tRNA ligase, cytoplasmic; alaRS; renal carcinoma antigen NY-REN-42; alanine tRNA ligase 1, cytoplasmic; alanyl-tRNA synthetase, cytoplasmic

NP_001596.2

EC 6.1.1.7

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NCBI Reference Sequences (RefSeq)

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

NG_023191.1 RefSeqGene

Range

5001..42116

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001605.2 → NP_001596.2 alanine--tRNA ligase, cytoplasmic

Status: REVIEWED

Source sequence(s)

BC011451, BG764123, BU178772, D32050

Consensus CDS

CCDS32474.1

UniProtKB/Swiss-Prot

P49588

Related

ENSP00000261772, OTTHUMP00000255689, ENST00000261772, OTTHUMT00000435021

Conserved Domains (5) summary

cd00673
Location:7 – 254
Blast Score: 971

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 ...

PLN02900
Location:6 – 961
Blast Score: 2968

PLN02900; alanyl-tRNA synthetase

pfam02272
Location:886 – 955
Blast Score: 134

DHHA1; DHHA1 domain

cl02787
Location:488 – 531
Blast Score: 86

Translation_Factor_II_like; Translation_Factor_II_like: Elongation factor Tu (EF-Tu) domain II-like proteins. Elongation factor Tu consists of three structural domains, this family represents the second domain. Domain II adopts a beta barrel structure and is involved in binding to ...

cl08469
Location:694 – 753
Blast Score: 146

tRNA_SAD; Threonyl and Alanyl tRNA synthetase second additional domain

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000016.9 Reference GRCh37.p5 Primary Assembly

Range

70286297..70323412, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000148.1 Alternate HuRef

Range

56119458..56156083, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC009060.7 (153669..180595)	None
genomic	AC012184.7 (355..10193)	None
genomic	AC093491.3 (132530..132879)	None
genomic	CH471241.1	EAW51838.1
		EAW51839.1
		EAW51840.1
mRNA	AK222824.1	BAD96544.1
mRNA	AK225116.1	None
mRNA	AK299098.1	BAG61157.1
mRNA	AK307782.1	None
mRNA	BC011451.1	AAH11451.1
mRNA	BG764123.1	None
mRNA	BU178772.1	None
mRNA	D32050.1	BAA06808.1
mRNA	DQ591736.1	None
other-genetic	DQ891634.2	ABM82560.1
other-genetic	DQ894824.2	ABM85750.1