InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EARS2

Summary

InnateDB Protein

IDBP-752018.3

Last Modified

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

Gene Symbol

EARS2

Protein Name

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000456467

InnateDB Gene

IDBG-20527 (EARS2)

Protein Structure

UniProt Annotation

Function

Catalyzes the attachment of glutamate to tRNA(Glu) in a two-step reaction: glutamate is first activated by ATP to form Glu-AMP and then transferred to the acceptor end of tRNA(Glu). {ECO:0000250}.

Subcellular Localization

Mitochondrion matrix {ECO:0000250}.

Disease Associations

Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]: An autosomal recessive, mitochondrial, neurologic disorder characterized by onset in infancy of hypotonia and delayed psychomotor development, or early developmental regression, associated with T2-weighted hyperintensities in the deep cerebral white matter, brainstem, and cerebellar white matter. Serum lactate is increased due to a defect in mitochondrial respiration. There are 2 main phenotypic groups: those with a milder disease course and some recovery of skills after age 2 years, and those with a severe disease course resulting in marked disability. {ECO:0000269PubMed:22492562, ECO:0000269PubMed:23008233}. 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 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [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:0004818	glutamate-tRNA ligase activity
GO:0005524	ATP binding
GO:0016876	ligase activity, forming aminoacyl-tRNA and related compounds
GO:0050561	glutamate-tRNA(Gln) ligase activity

Biological Process

GO:0006418	tRNA aminoacylation for protein translation
GO:0006424	glutamyl-tRNA aminoacylation
GO:0010467	gene expression
GO:0043039	tRNA aminoacylation
GO:0070127	tRNA aminoacylation for mitochondrial protein translation

Cellular Component

GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005759	mitochondrial matrix

Protein Structure and Domains

PDB ID

InterPro

IPR000924 Glutamyl/glutaminyl-tRNA synthetase
IPR004527 Glutamate-tRNA ligase, bacterial/mitochondrial
IPR008925 Aminoacyl-tRNA synthetase, class I, anticodon-binding
IPR020058 Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain

PFAM

PF00749

PRINTS

PR00987

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q5JPH6