GATC
entrez
283459
canonical
uniprot
O43716
canonical
ensembl
ENSG00000257218
resolver
ensp
ENSP00000446872
resolver
enst
ENST00000551765
resolver
genesymbol
GATC
resolver
genesymbol_syn
15E1.2
resolver
hgnc
HGNC:25068
resolver
uniprot
B3KSU7
resolver
uniprot
Q3B824
resolver
uniprot
Q3KNR8
resolver
uniprot_entry
GATC_HUMAN
resolver
uniprot_sec
B3KSU7
resolver
uniprot_sec
Q3B824
resolver
uniprot_sec
Q3KNR8
resolver
amino_acid_sequence
MWSRLVWLGLRAPLGGRQGFTSKADPQGSGRITAAVIEHLERLALVDFGSREAVARLEKAIAFADRLRAVDTDGVEPMESVLEDRCLYLRSDNVVEGNCADELLQNSHRVVEEYFVAPPGNISLPKLDEQEPFPHS
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 42 (COXPD42) [MIM:618839]: An autosomal recessive mitochondrial disorder characterized by onset in the first months of life, cardiomyopathy, respiratory insufficiency, lactic acidosis, anemia, and variable impairment of mitochondrial respiratory complexes I, III, and IV. Death occurs in infancy. {ECO:0000269|PubMed:30283131}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Structural subunit of the mitochondrial Glu-tRNA(Gln) amidotransferase complex GatCAB. GatCAB allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria (PubMed:19805282). The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln) (By similarity). This subunit probably forms a belt that wraps around the interface of the catalytic subunits A and B to stabilize the complex (Probable). {ECO:0000255|HAMAP-Rule:MF_03149, ECO:0000269|PubMed:19805282, ECO:0000305|PubMed:19805282}.
uniprot
proteins
mass_dalton
15086
uniprot
proteins
protein_family
GatC family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
19805282
uniprot
proteins
pubmed
30283131
uniprot
proteins
sequence_length
136
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000255|HAMAP-Rule:MF_03149, ECO:0000269|PubMed:19805282}.
uniprot
proteins