InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: AARS

Summary

InnateDB Protein

IDBP-39796.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

AARS

Protein Name

alanyl-tRNA synthetase

Synonyms

CMT2N;

Species

Homo sapiens

Ensembl Protein

ENSP00000261772

InnateDB Gene

IDBG-39794 (AARS)

Protein Structure

UniProt Annotation

Function

Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala- AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain. {ECO:0000255HAMAP-Rule:MF_03133}.

Subcellular Localization

Cytoplasm {ECO:0000255HAMAP-Rule:MF_03133}.

Disease Associations

Charcot-Marie-Tooth disease 2N (CMT2N) [MIM:613287]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269PubMed:20045102, ECO:0000269PubMed:22009580, ECO:0000269PubMed:22206013}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 46 experimentally validated interaction(s) in this database.

Experimentally validated
Total	46 [view]
Protein-Protein	46 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000049	tRNA binding
GO:0000166	nucleotide binding
GO:0002161	aminoacyl-tRNA editing activity
GO:0003676	nucleic acid binding
GO:0004813	alanine-tRNA ligase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008270	zinc ion binding
GO:0016597	amino acid binding
GO:0016876	ligase activity, forming aminoacyl-tRNA and related compounds

Biological Process

GO:0001942	hair follicle development
GO:0006400	tRNA modification
GO:0006418	tRNA aminoacylation for protein translation
GO:0006419	alanyl-tRNA aminoacylation
GO:0006450	regulation of translational fidelity
GO:0006457	protein folding
GO:0008033	tRNA processing
GO:0008219	cell death
GO:0010467	gene expression
GO:0021680	cerebellar Purkinje cell layer development
GO:0030968	endoplasmic reticulum unfolded protein response
GO:0034620	cellular response to unfolded protein
GO:0043039	tRNA aminoacylation
GO:0043200	response to amino acid
GO:0043524	negative regulation of neuron apoptotic process
GO:0043588	skin development
GO:0050885	neuromuscular process controlling balance
GO:0050905	neuromuscular process

Cellular Component

GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0016020	membrane
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR002318 Alanine-tRNA ligase, class IIc
IPR003156 DHHA1 domain
IPR012947 Threonyl/alanyl tRNA synthetase, SAD
IPR018162 Alanine-tRNA ligase, class IIc, anti-codon-binding domain
IPR018163 Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain
IPR018164 Alanyl-tRNA synthetase, class IIc, N-terminal
IPR018165 Alanyl-tRNA synthetase, class IIc, core domain

PFAM

PF02272
PF07973
PF01411

PRINTS

PR00980

PIRSF

SMART

SM00863

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt