InnateDB Protein
|
IDBP-372848.4
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
EARS2
|
Protein Name
|
glutamyl-tRNA synthetase 2, mitochondrial (putative)
|
Synonyms
|
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000395196
|
InnateDB Gene
|
IDBG-20527 (EARS2)
|
Protein Structure
|
|
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 |
|
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
|
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
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 |
|
Modification |
|
SwissProt |
Q5JPH6
|
PhosphoSite |
PhosphoSite-Q5JPH6
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
124454
|
UniGene |
Hs.643812
|
RefSeq |
NP_001077083
|
HUGO |
HGNC:29419
|
OMIM |
612799
|
CCDS |
CCDS42132
|
HPRD |
|
IMGT |
|
EMBL |
AB075850
AK095998
AL832489
CH471145
|
GenPept |
BAB85556
BAG53194
CAI46121
EAW55822
EAW55824
|
|
|