KARS1
entrez
3735
canonical
uniprot
Q15046
canonical
ensembl
ENSG00000065427
resolver
ensp
ENSP00000303043
resolver
ensp
ENSP00000325448
resolver
genesymbol
KARS1
resolver
genesymbol_syn
KARS
resolver
genesymbol_syn
KIAA0070
resolver
hgnc
HGNC:6215
resolver
uniprot
A8MSK1
resolver
uniprot
D3DUK4
resolver
uniprot
O14946
resolver
uniprot
Q96J25
resolver
uniprot
Q9HB23
resolver
uniprot_entry
SYK_HUMAN
resolver
uniprot_sec
A8MSK1
resolver
uniprot_sec
D3DUK4
resolver
uniprot_sec
O14946
resolver
uniprot_sec
Q96J25
resolver
uniprot_sec
Q9HB23
resolver
activity_regulation
ACTIVITY REGULATION: Up-regulated by DARS and EEF1A1, but not by AIMP2. {ECO:0000269|PubMed:18029264}.
uniprot
proteins
amino_acid_sequence
MAAVQAAEVKVDGSEPKLSKNELKRRLKAEKKVAEKEAKQKELSEKQLSQATAAATNHTTDNGVGPEEESVDPNQYYKIRSQAIHQLKVNGEDPYPHKFHVDISLTDFIQKYSHLQPGDHLTDITLKVAGRIHAKRASGGKLIFYDLRGEGVKLQVMANSRNYKSEEEFIHINNKLRRGDIIGVQGNPGKTKKGELSIIPYEITLLSPCLHMLPHLHFGLKDKETRYRQRYLDLILNDFVRQKFIIRSKIITYIRSFLDELGFLEIETPMMNIIPGGAVAKPFITYHNELDMNLYMRIAPELYHKMLVVGGIDRVYEIGRQFRNEGIDLTHNPEFTTCEFYMAYADYHDLMEITEKMVSGMVKHITGSYKVTYHPDGPEGQAYDVDFTPPFRRINMVEELEKALGMKLPETNLFETEETRKILDDICVAKAVECPPPRTTARLLDKLVGEFLEVTCINPTFICDHPQIMSPLAKWHRSKEGLTERFELFVMKKEICNAYTELNDPMRQRQLFEEQAKAKAAGDDEAMFIDENFCTALEYGLPPTAGWGMGIDRVAMFLTDSNNIKEVLLFPAMKPEDKKENVATTDTLESTTVGTSV
uniprot
proteins
disease_involvement
DISEASE: Charcot-Marie-Tooth disease, recessive intermediate B (CMTRIB) [MIM:613641]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. {ECO:0000269|PubMed:20920668}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Deafness, autosomal recessive, 89 (DFNB89) [MIM:613916]: A form of non-syndromic deafness characterized by bilateral, prelingual, moderate to severe hearing loss affecting all frequencies. {ECO:0000269|PubMed:23768514}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Deafness, congenital, and adult-onset progressive leukoencephalopathy (DEAPLE) [MIM:619196]: An autosomal recessive, complex neurodegenerative disorder characterized by congenital sensorineural deafness, and progressive motor and cognitive decline apparent in young adulthood. Brain imaging shows diffuse white matter abnormalities affecting various brain regions, consistent with a progressive leukoencephalopathy. More variable additional features may include visual impairment and axonal peripheral neuropathy. Premature death may occurr in some patients. {ECO:0000269|PubMed:28887846, ECO:0000269|PubMed:30737337, ECO:0000269|PubMed:31116475}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Leukoencephalopathy, progressive, infantile-onset, with or without deafness (LEPID) [MIM:619147]: An autosomal recessive, complex neurodegenerative disorder apparent from infancy. LEPID is characterized by early-onset progressive leukoencephalopathy with brainstem and spinal cord calcifications, sensorineural deafness in most patients, global developmental delay with cognitive impairment and poor or absent speech, developmental regression, and neurologic deterioration. Additional more variable features may include poor overall growth with microcephaly, seizures, visual loss, microcytic anemia, and hepatic enlargement or abnormal liver enzymes. Premature death is common. {ECO:0000269|PubMed:25330800, ECO:0000269|PubMed:29615062, ECO:0000269|PubMed:30252186, ECO:0000269|PubMed:30715177}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.7.-
uniprot
proteins
ec_number
6.1.1.6
uniprot
proteins
function
FUNCTION: Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA (PubMed:18029264, PubMed:18272479, PubMed:9278442). When secreted, acts as a signaling molecule that induces immune response through the activation of monocyte/macrophages (PubMed:15851690). Catalyzes the synthesis of the signaling molecule diadenosine tetraphosphate (Ap4A), and thereby mediates disruption of the complex between HINT1 and MITF and the concomitant activation of MITF transcriptional activity (PubMed:14975237, PubMed:19524539, PubMed:23159739, PubMed:5338216). {ECO:0000269|PubMed:14975237, ECO:0000269|PubMed:15851690, ECO:0000269|PubMed:18029264, ECO:0000269|PubMed:19524539, ECO:0000269|PubMed:28887846, ECO:0000269|PubMed:5338216, ECO:0000269|PubMed:9278442}.; FUNCTION: (Microbial infection) Interacts with HIV-1 virus GAG protein, facilitating the selective packaging of tRNA(3)(Lys), the primer for reverse transcription initiation. {ECO:0000269|PubMed:15220430}.
uniprot
proteins
mass_dalton
68048
uniprot
proteins
mutagenesis
MUTAGEN 1..65; /note="Missing: Loss of nuclear localization, but no effect on packaging into HIV-1."; /evidence="ECO:0000269|PubMed:15220430"; MUTAGEN 101; /note="V->D,R,W: Disrupts interaction with AIMP2 and the multisynthase complex."; /evidence="ECO:0000269|PubMed:23159739"; MUTAGEN 207; /note="S->A: Strongly reduced production of diadenosine tetraphosphate (Ap4A). Reduced protein phosphorylation."; /evidence="ECO:0000269|PubMed:19524539"; MUTAGEN 207; /note="S->D: Phosphomimetic mutant that strongly enhances translocation into the nucleus and production of diadenosine tetraphosphate (Ap4A). Almost complete loss of tRNA ligase activity."; /evidence="ECO:0000269|PubMed:23159739"; MUTAGEN 207; /note="S->R: Strongly decreased tRNA ligase activity."; /evidence="ECO:0000269|PubMed:23159739"; MUTAGEN 207; /note="S->Y: Almost complete loss of tRNA ligase activity."; /evidence="ECO:0000269|PubMed:23159739"; MUTAGEN 346; /note="D->R: Induces protein aggregation. Releases from the subunit complex."; /evidence="ECO:0000269|PubMed:28887846"; MUTAGEN 540; /note="G->Y: Disrupts interaction with AIMP2 and the multisynthase complex. Increases production of diadenosine tetraphosphate (Ap4A). Almost complete loss of tRNA ligase activity."; /evidence="ECO:0000269|PubMed:23159739
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on a serine residue after mast cell stimulation with immunoglobulin E (IgE). {ECO:0000250|UniProtKB:Q5XIM7}.
uniprot
proteins
protein_family
Class-II aminoacyl-tRNA synthetase family
uniprot
proteins
pubmed
10952987
uniprot
proteins
pubmed
12756246
uniprot
proteins
pubmed
14659874
uniprot
proteins
pubmed
14975237
uniprot
proteins
pubmed
15220430
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
15851690
uniprot
proteins
pubmed
18029264
uniprot
proteins
pubmed
18272479
uniprot
proteins
pubmed
19131329
uniprot
proteins
pubmed
19289464
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19524539
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20920668
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23159739
uniprot
proteins
pubmed
23768514
uniprot
proteins
pubmed
24312579
uniprot
proteins
pubmed
25330800
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26074468
uniprot
proteins
pubmed
27891585
uniprot
proteins
pubmed
28887846
uniprot
proteins
pubmed
29615062
uniprot
proteins
pubmed
30252186
uniprot
proteins
pubmed
30715177
uniprot
proteins
pubmed
30737337
uniprot
proteins
pubmed
31116475
uniprot
proteins
pubmed
5338216
uniprot
proteins
pubmed
7584044
uniprot
proteins
pubmed
9278442
uniprot
proteins
pubmed
9878398
uniprot
proteins
sequence_length
597
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform Cytoplasmic]: Cytoplasm, cytosol {ECO:0000269|PubMed:10952987, ECO:0000269|PubMed:19289464, ECO:0000269|PubMed:23159739, ECO:0000269|PubMed:28887846}. Cytoplasm {ECO:0000269|PubMed:15220430}. Nucleus {ECO:0000269|PubMed:15220430, ECO:0000269|PubMed:23159739}. Cell membrane {ECO:0000269|PubMed:15220430}; Peripheral membrane protein {ECO:0000269|PubMed:15220430}. Secreted {ECO:0000269|PubMed:15851690}. Note=Secretion is induced by TNF (PubMed:15851690). Cytosolic in quiescent mast cells. Translocates into the nucleus in response to mast cell activation by immunoglobulin E (PubMed:23159739). {ECO:0000269|PubMed:15851690, ECO:0000269|PubMed:23159739}.; SUBCELLULAR LOCATION: [Isoform Mitochondrial]: Mitochondrion {ECO:0000269|PubMed:10952987}.
uniprot
proteins