QARS1
entrez
5859
canonical
uniprot
P47897
canonical
ensembl
ENSG00000172053
resolver
ensp
ENSP00000307567
resolver
ensp
ENSP00000390015
resolver
ensp
ENSP00000732477
resolver
genesymbol
QARS1
resolver
genesymbol_syn
QARS
resolver
hgnc
HGNC:9751
resolver
uniprot
B4DWJ2
resolver
uniprot
B7Z840
resolver
uniprot
E7EM76
resolver
uniprot_entry
B7Z840_HUMAN
resolver
uniprot_entry
SYQ_HUMAN
resolver
uniprot_sec
B4DWJ2
resolver
uniprot_sec
E7EM76
resolver
amino_acid_sequence
MAALDSLSLFTSLGLSEQKARETLKNSALSAQLREAATQAQQTLGSTIDKATGILLYGLASRLRDTRRLSFLVSYIASKKIHTEPQLSAALEYVRSHPLDPIDTVDFERECGVGVIVTPEQIEEAVEAAINRHRPQLLVERYHFNMGLLMGEARAVLKWADGKMIKNEVDMQVLHLLGPKLEADLEKKFKVAKARLEETDRRTAKDVVENGETADQTLSLMEQLRGEALKFHKPGENYKTPGYVVTPHTMNLLKQHLEITGGQVRTRFPPEPNGILHIGHAKAINFNFGYAKANNGICFLRFDDTNPEKEEAKFFTAICDMVAWLGYTPYKVTYASDYFDQLYAWAVELIRRGLAYVCHQRGEELKGHNTLPSPWRDRPMEESLLLFEAMRKGKFSEGEATLRMKLVMEDGKMDPVAYRVKYTPHHRTGDKWCIYPTYDYTHCLCDSIEHITHSLCTKEFQARRSSYFWLCNALDVYCPVQWEYGRLNLHYAVVSKRKILQLVATGAVRDWDDPRLFTLTALRRRGFPPEAINNFCARVGVTVAQTTMEPHLLEACVRDVLNDTAPRAMAVLESLRVIITNFPAAKSLDIQVPNFPADETKGFHQVPFAPIVFIERTDFKEEPEPGFKRLAWGQPVGLRHTGYVIELQHVVKGPSGCVESLEVTCRRADAGEKPKAFIHWVSQPLMCEVRLYERLFQHKNPEDPTEVPGGFLSDLNLASLHVVDAALVDCSVALAKPFDKFQFERLGYFSVDPDSHQGKLVFNRTVTLKEDPGKV
uniprot
proteins
disease_involvement
DISEASE: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy (MSCCA) [MIM:615760]: A severe, autosomal recessive, neurodevelopmental and neurodegenerative disorder characterized by progressive microcephaly, severe seizures in infancy, atrophy of the cerebral cortex and cerebellar vermis, and mild atrophy of the cerebellar hemispheres, resulting in profoundly delayed development and hypotonia. {ECO:0000269|PubMed:24656866, ECO:0000269|PubMed:26869582}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.1.1.18
uniprot
proteins
function
FUNCTION: Glutamine--tRNA ligase (PubMed:26869582). Plays a critical role in brain development (PubMed:24656866). {ECO:0000269|PubMed:24656866, ECO:0000269|PubMed:26869582}.
uniprot
proteins
mass_dalton
87799
uniprot
proteins
mutagenesis
MUTAGEN 175; /note="H->A: Decreases catalytic efficiency about 60-fold."; /evidence="ECO:0000269|PubMed:26869582
uniprot
proteins
protein_family
Class-I aminoacyl-tRNA synthetase family
uniprot
proteins
pubmed
10791971
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19131329
uniprot
proteins
pubmed
19289464
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24656866
uniprot
proteins
pubmed
25288775
uniprot
proteins
pubmed
26869582
uniprot
proteins
pubmed
8078941
uniprot
proteins
sequence_length
775
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:19289464}. Cytoplasm {ECO:0000269|PubMed:10791971, ECO:0000269|PubMed:24656866}.
uniprot
proteins