QRSL1
entrez
55278
canonical
uniprot
Q9H0R6
canonical
ensembl
ENSG00000130348
resolver
ensp
ENSP00000358042
resolver
ensp
ENSP00000641656
resolver
genesymbol
QRSL1
resolver
hgnc
HGNC:21020
resolver
uniprot
Q5VWJ4
resolver
uniprot
Q9HA60
resolver
uniprot
Q9NV19
resolver
uniprot_entry
GATA_HUMAN
resolver
uniprot_sec
Q5VWJ4
resolver
uniprot_sec
Q9HA60
resolver
uniprot_sec
Q9NV19
resolver
amino_acid_sequence
MLGRSLREVSAALKQGQITPTELCQKCLSLIKKTKFLNAYITVSEEVALKQAEESEKRYKNGQSLGDLDGIPIAVKDNFSTSGIETTCASNMLKGYIPPYNATVVQKLLDQGALLMGKTNLDEFAMGSGSTDGVFGPVKNPWSYSKQYREKRKQNPHSENEDSDWLITGGSSGGSAAAVSAFTCYAALGSDTGGSTRNPAAHCGLVGFKPSYGLVSRHGLIPLVNSMDVPGILTRCVDDAAIVLGALAGPDPRDSTTVHEPINKPFMLPSLADVSKLCIGIPKEYLVPELSSEVQSLWSKAADLFESEGAKVIEVSLPHTSYSIVCYHVLCTSEVASNMARFDGLQYGHRCDIDVSTEAMYAATRREGFNDVVRGRILSGNFFLLKENYENYFVKAQKVRRLIANDFVNAFNSGVDVLLTPTTLSEAVPYLEFIKEDNRTRSAQDDIFTQAVNMAGLPAVSIPVALSNQGLPIGLQFIGRAFCDQQLLTVAKWFEKQVQFPVIQLQELMDDCSAVLENEKLASVSLKQ
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 40 (COXPD40) [MIM:618835]: An autosomal recessive mitochondrial disorder characterized by prenatal or infantile onset, fetal hydrops, severe hypertrophic cardiomyopathy, poor growth, sensorineural hearing loss, hepatic dysfunction, lactic acidosis, and decreased activities of mitochondrial respiratory complexes I, III, IV, and V. The disorder is lethal, with death occurring in infancy. {ECO:0000269|PubMed:26741492, ECO:0000269|PubMed:30283131}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.5.1.2
uniprot
proteins
function
FUNCTION: Catalytic subunit of the mitochondrial Glu-tRNA(Gln) amidotransferase complex GatCAB (Probable) (PubMed:19805282). GatCAB allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln) (By similarity). This subunit probably catalyzes the hydrolysis of the amido donor Gln, releasing ammonia that is sequestered within a channel in the GatCAB complex and made available to subunit B for downstream aminolysis of Glu-tRNA(Gln) (Probable). Required for the stability of GATB (By similarity). {ECO:0000250|UniProtKB:Q9CZN8, ECO:0000255|HAMAP-Rule:MF_03150, ECO:0000269|PubMed:19805282, ECO:0000269|PubMed:24579914, ECO:0000305, ECO:0000305|PubMed:19805282}.
uniprot
proteins
mass_dalton
57460
uniprot
proteins
protein_family
Amidase family
uniprot
proteins
protein_family
GatA subfamily
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19805282
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24579914
uniprot
proteins
pubmed
26741492
uniprot
proteins
pubmed
30283131
uniprot
proteins
sequence_length
528
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000255|HAMAP-Rule:MF_03150, ECO:0000269|PubMed:19805282}.
uniprot
proteins