GATB
entrez
5188
canonical
uniprot
O75879
canonical
ensembl
ENSG00000059691
resolver
ensp
ENSP00000263985
resolver
ensp
ENSP00000541491
resolver
enst
ENST00000263985
resolver
genesymbol
GATB
resolver
genesymbol_syn
PET112
resolver
genesymbol_syn
PET112L
resolver
hgnc
HGNC:8849
resolver
uniprot
Q4W5M8
resolver
uniprot
Q53GP4
resolver
uniprot
Q9P0S6
resolver
uniprot
Q9Y2B8
resolver
uniprot_entry
GATB_HUMAN
resolver
uniprot_sec
Q4W5M8
resolver
uniprot_sec
Q53GP4
resolver
uniprot_sec
Q9P0S6
resolver
uniprot_sec
Q9Y2B8
resolver
amino_acid_sequence
MAAPMLRWGCRGRRWAFARVDGGSCHRRGAPTGSTSNQIRGESSVAQQPLHTAQKTRKGEHKWAAVVGLEIHAQISSNSKLFSGSQVRFSAPPNSLVSFFDASLPGTLPVLNRRCVEAAVMTGLALNCHINKKSLFDRKHYFYADLPAGYQITQQRLPIAVNGSLIYGVCAGKKQSQVIPKTVRIKQIQLEQDSGKSLHDNLRSQTLIDLNRAGVGLLEVVLEPDMSCGEEAATAVRELQLILQALGTSQANMAEGQLRVDANISVHHPGEPLGVRTEVKNLNSIRFLAKAIDYEIQRQINELENGGEILNETRSFHHKLGCTMSMRDKEGKQDYRFMPEPNLPPLVLYDATSLPAGADPQQVINIDQIRETLPELPSVTREKLVQQYGMLLEHSFTLLNEVGLLEFFQNVIKETRAEPKKVTSWVLNTFLGYLKQQNLAVSESPVTPSALAELLDLLDSRTISSSAAKQVFEELWKREGKTPGQIVSEKQLELMQDQGALEQLCHSVMEAHPQVVMDVKNRNPRAINKLIGLVRKATQSRADPVMIKEILEKKLSL
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 41 (COXPD41) [MIM:618838]: An autosomal recessive mitochondrial disorder characterized by prenatal onset, fetal hydrops, intrauterine growth retardation, hypertrophic cardiomyopathy, respiratory insufficiency, lactic acidosis, and decreased activities of mitochondrial respiratory complexes I, III, IV, and V. The disorder is lethal, with death occurring in the perinatal period. {ECO:0000269|PubMed:30283131}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.3.5.7
uniprot
proteins
function
FUNCTION: Catalytic subunit of the mitochondrial Glu-tRNA(Gln) amidotransferase complex GatCAB (Probable). 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 recognizes tRNA(Gln) and mediates the transamidation of misloaded Glu by catalyzing formation of the activated gamma-phospho-intermediate and its subsequent aminolysis using ammonia produced by the gatA subunit (Probable). {ECO:0000255|HAMAP-Rule:MF_03147, ECO:0000269|PubMed:19805282, ECO:0000305|PubMed:19805282}.
uniprot
proteins
mass_dalton
61864
uniprot
proteins
protein_family
GatB subfamily
uniprot
proteins
protein_family
GatB/GatE family
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
19805282
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
30283131
uniprot
proteins
pubmed
9878253
uniprot
proteins
sequence_length
557
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000255|HAMAP-Rule:MF_03147, ECO:0000269|PubMed:19805282, ECO:0000269|PubMed:9878253}.
uniprot
proteins