PARS2
entrez
25973
canonical
uniprot
Q7L3T8
canonical
ensembl
ENSG00000162396
resolver
ensp
ENSP00000360327
resolver
ensp
ENSP00000557799
resolver
enst
ENST00000371279
resolver
enst
ENST00000887740
resolver
genesymbol
PARS2
resolver
hgnc
HGNC:30563
resolver
uniprot
A8K0W4
resolver
uniprot
Q9H6S5
resolver
uniprot
Q9UFT1
resolver
uniprot_entry
SYPM_HUMAN
resolver
uniprot_sec
A8K0W4
resolver
uniprot_sec
Q9H6S5
resolver
uniprot_sec
Q9UFT1
resolver
amino_acid_sequence
MEGLLTRCRALPALATCSRQLSGYVPCRFHHCAPRRGRRLLLSRVFQPQNLREDRVLSLQDKSDDLTCKSQRLMLQVGLIYPASPGCYHLLPYTVRAMEKLVRVIDQEMQAIGGQKVNMPSLSPAELWQATNRWDLMGKELLRLRDRHGKEYCLGPTHEEAITALIASQKKLSYKQLPFLLYQVTRKFRDEPRPRFGLLRGREFYMKDMYTFDSSPEAAQQTYSLVCDAYCSLFNKLGLPFVKVQADVGTIGGTVSHEFQLPVDIGEDRLAICPRCSFSANMETLDLSQMNCPACQGPLTKTKGIEVGHTFYLGTKYSSIFNAQFTNVCGKPTLAEMGCYGLGVTRILAAAIEVLSTEDCVRWPSLLAPYQACLIPPKKGSKEQAASELIGQLYDHITEAVPQLHGEVLLDDRTHLTIGNRLKDANKFGYPFVIIAGKRALEDPAHFEVWCQNTGEVAFLTKDGVMDLLTPVQTV
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 75 (DEE75) [MIM:618437]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE75 is an autosomal recessive form characterized by onset of severe refractory seizures in the first months of life. {ECO:0000269|PubMed:25629079, ECO:0000269|PubMed:28077841, ECO:0000269|PubMed:29410512, ECO:0000269|PubMed:29915213, ECO:0000269|PubMed:30237576}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.1.1.15
uniprot
proteins
function
FUNCTION: Mitochondrial aminoacyl-tRNA synthetase that catalyzes the specific attachment of the proline amino acid (aa) to the homologous transfer RNA (tRNA), further participating in protein synthesis. The reaction occurs in a two steps: proline is first activated by ATP to form Pro-AMP and then transferred to the acceptor end of tRNA(Pro). {ECO:0000305|PubMed:15779907}.
uniprot
proteins
mass_dalton
53263
uniprot
proteins
protein_family
Class-II aminoacyl-tRNA synthetase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15779907
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25629079
uniprot
proteins
pubmed
28077841
uniprot
proteins
pubmed
28202951
uniprot
proteins
pubmed
29410512
uniprot
proteins
pubmed
29915213
uniprot
proteins
pubmed
30237576
uniprot
proteins
pubmed
34585293
uniprot
proteins
sequence_length
475
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000305|PubMed:15779907}.
uniprot
proteins