EARS2
entrez
124454
canonical
uniprot
Q5JPH6
canonical
ensembl
ENSG00000103356
resolver
ensp
ENSP00000395196
resolver
ensp
ENSP00000456218
resolver
genesymbol
EARS2
resolver
genesymbol_syn
KIAA1970
resolver
hgnc
HGNC:29419
resolver
uniprot
B3KTT2
resolver
uniprot
D3DWF1
resolver
uniprot
Q86YH3
resolver
uniprot
Q8TF31
resolver
uniprot_entry
SYEM_HUMAN
resolver
uniprot_sec
B3KTT2
resolver
uniprot_sec
D3DWF1
resolver
uniprot_sec
Q86YH3
resolver
uniprot_sec
Q8TF31
resolver
amino_acid_sequence
MAALLRRLLQRERPSAASGRPVGRREANLGTDAGVAVRVRFAPSPTGFLHLGGLRTALYNYIFAKKYQGSFILRLEDTDQTRVVPGAAENIEDMLEWAGIPPDESPRRGGPAGPYQQSQRLELYAQATEALLKTGAAYPCFCSPQRLELLKKEALRNHQTPRYDNRCRNMSQEQVAQKLAKDPKPAIRFRLEQVVPAFQDLVYGWNRHEVASVEGDPVIMKSDGFPTYHLACVVDDHHMGISHVLRGSEWLVSTAKHLLLYQALGWQPPHFAHLPLLLNRDGSKLSKRQGDVFLEHFAADGFLPDSLLDIITNCGSGFAENQMGRTLPELITQFNLTQVTCHSALLDLEKLPEFNRLHLQRLVSNESQRRQLVGKLQVLVEEAFGCQLQNRDVLNPVYVERILLLRQGHICRLQDLVSPVYSYLWTRPAVGRAQLDAISEKVDVIAKRVLGLLERSSMSLTQDMLNGELKKLSEGLEGTKYSNVMKLLRMALSGQQQGPPVAEMMLALGPKEVRERIQKVVSS
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:22492562, ECO:0000269|PubMed:23008233, ECO:0000269|PubMed:26741492}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.1.1.17
uniprot
proteins
ec_number
6.1.1.24
uniprot
proteins
function
FUNCTION: Non-discriminating glutamyl-tRNA synthetase that catalyzes aminoacylation of both mitochondrial tRNA(Glu) and tRNA(Gln) and participates in RNA aminoacylation for mitochondrial protein translation (PubMed:19805282). Attachs glutamate to tRNA(Glu) or tRNA(Gln) 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) or tRNA(Gln) (PubMed:19805282). In vitro, cytoplasmic tRNA(Gln) is slightly glutamylated, but with low activity (PubMed:19805282). {ECO:0000269|PubMed:19805282}.
uniprot
proteins
mass_dalton
58689
uniprot
proteins
protein_family
Class-I aminoacyl-tRNA synthetase family
uniprot
proteins
protein_family
Glutamate--tRNA ligase type 1 subfamily
uniprot
proteins
pubmed
11853319
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15779907
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19805282
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22492562
uniprot
proteins
pubmed
23008233
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26741492
uniprot
proteins
sequence_length
523
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:19805282}.
uniprot
proteins