CARS2
entrez
79587
canonical
uniprot
Q9HA77
canonical
ensembl
ENSG00000134905
resolver
ensp
ENSP00000257347
resolver
ensp
ENSP00000663091
resolver
ensp
ENSP00000663093
resolver
ensp
ENSP00000693800
resolver
ensp
ENSP00000775910
resolver
enst
ENST00000257347
resolver
genesymbol
CARS2
resolver
hgnc
HGNC:25695
resolver
uniprot
B7Z7E6
resolver
uniprot
Q8NI84
resolver
uniprot
Q96IV4
resolver
uniprot_entry
B7Z7E6_HUMAN
resolver
uniprot_entry
SYCM_HUMAN
resolver
uniprot_sec
Q8NI84
resolver
uniprot_sec
Q96IV4
resolver
amino_acid_sequence
MLRTTRGPGLGPPLLQAALGLGRAGWHWPAGRAASGGRGRAWLQPTGRETGVQVYNSLTGRKEPLIVAHAEAASWYSCGPTVYDHAHLGHACSYVRFDIIRRILTKVFGCSIVMVMGITDVDDKIIKRANEMNISPASLASLYEEDFKQDMAALKVLPPTVYLRVTENIPQIISFIEGIIARGNAYSTAKGNVYFDLKSRGDKYGKLVGVVPGPVGEPADSDKRHASDFALWKAAKPQEVFWASPWGPGRPGWHIECSAIASMVFGSQLDIHSGGIDLAFPHHENEIAQCEVFHQCEQWGNYFLHSGHLHAKGKEEKMSKSLKNYITIKDFLKTFSPDVFRFFCLRSSYRSAIDYSDSAMLQAQQLLLGLGSFLEDARAYMKGQLACGSVREAMLWERLSSTKRAVKAALADDFDTPRVVDAILGLAHHGNGQLRASLKEPEGPRSPAVFGAIISYFEQFFETVGISLANQQYVSGDGSEATLHGVVDELVRFRQKVRQFALAMPEATGDARRQQLLERQPLLEACDTLRRGLTAHGINIKDRSSTTSTWELLDQRTKDQKSAG
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 27 (COXPD27) [MIM:616672]: An autosomal recessive mitochondrial disorder characterized by multiple mitochondrial respiratory-chain-complex deficiencies causing neurological regression, progressive cognitive decline, complex movement disorder, epileptic encephalopathy, progressive spastic tetraparesis, and progressive impairment of vision and hearing. {ECO:0000269|PubMed:25361775, ECO:0000269|PubMed:25787132}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.1.1.16
uniprot
proteins
function
FUNCTION: Mitochondrial cysteine-specific aminoacyl-tRNA synthetase that catalyzes the ATP-dependent ligation of cysteine to tRNA(Cys). {ECO:0000269|PubMed:29079736}.; FUNCTION: In addition to its role as an aminoacyl-tRNA synthetase, has also cysteine persulfide synthase activity. Produces reactive persulfide species such as cysteine persulfide (CysSSH) from substrate cysteine and mediate direct incorporation of CysSSH into proteins during translations, resulting in protein persulfides and polysulfides (PubMed:29079736). CysSSHs behave as potent antioxidants and cellular protectants (PubMed:29079736). {ECO:0000269|PubMed:29079736}.
uniprot
proteins
mass_dalton
62224
uniprot
proteins
mutagenesis
MUTAGEN 78; /note="C->D: No effect on cysteine persulfide synthase activity; when associated with D-257. Loss of cysteine--tRNA ligase activity; when associated with D-257."; /evidence="ECO:0000269|PubMed:29079736"; MUTAGEN 124..127; /note="KIIK->AIIA: No effect on cysteine--tRNA ligase activity. Loss of cysteine persulfide synthase activity."; /evidence="ECO:0000269|PubMed:29079736"; MUTAGEN 257; /note="C->D: No effect on cysteine persulfide synthase activity; when associated with D-78. Loss of cysteine--tRNA ligase activity; when associated with D-78."; /evidence="ECO:0000269|PubMed:29079736"; MUTAGEN 317..320; /note="KMSK->AMSA: No effect on cysteine--tRNA ligase activity. Loss of cysteine persulfide synthase activity."; /evidence="ECO:0000269|PubMed:29079736
uniprot
proteins
protein_family
Class-I aminoacyl-tRNA synthetase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15779907
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25361775
uniprot
proteins
pubmed
25787132
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29079736
uniprot
proteins
sequence_length
564
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305|PubMed:29079736}.
uniprot
proteins