KEGG   Homo sapiens (human): 3735
Entry
3735              CDS       T01001                                 
Symbol
KARS1, CMTRIB, DEAPLE, DFNB89, KARS, KARS2, KRS, LEPID
Name
(RefSeq) lysyl-tRNA synthetase 1
  KO
K04567  lysyl-tRNA synthetase, class II [EC:6.1.1.6]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00970  Aminoacyl-tRNA biosynthesis
Disease
H00264  Charcot-Marie-Tooth disease
H00605  Deafness, autosomal recessive
H02687  Congenital deafness and adult-onset progressive leukoencephalopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   00970 Aminoacyl-tRNA biosynthesis
    3735 (KARS1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01007 Amino acid related enzymes [BR:hsa01007]
    3735 (KARS1)
  09182 Protein families: genetic information processing
   03016 Transfer RNA biogenesis [BR:hsa03016]
    3735 (KARS1)
Enzymes [BR:hsa01000]
 6. Ligases
  6.1  Forming carbon-oxygen bonds
   6.1.1  Ligases forming aminoacyl-tRNA and related compounds
    6.1.1.6  lysine---tRNA ligase
     3735 (KARS1)
Amino acid related enzymes [BR:hsa01007]
 Aminoacyl-tRNA synthetase
  Class II (A)
   3735 (KARS1)
Transfer RNA biogenesis [BR:hsa03016]
 Eukaryotic type
  Aminoacyl-tRNA synthetases (AARSs)
   Multi-aminoacyl-tRNA synthetase complex (MSC)
    3735 (KARS1)
 Prokaryotic type
   Other AARSs
    3735 (KARS1)
SSDB
Motif
Pfam: tRNA-synt_2 tRNA_anti-codon tRNA-synt_2d Dec-1
Other DBs
NCBI-GeneID: 3735
NCBI-ProteinID: NP_005539
OMIM: 601421
HGNC: 6215
Ensembl: ENSG00000065427
UniProt: Q15046
Structure
Position
16:complement(75627724..75647665)
AA seq 597 aa
MAAVQAAEVKVDGSEPKLSKNELKRRLKAEKKVAEKEAKQKELSEKQLSQATAAATNHTT
DNGVGPEEESVDPNQYYKIRSQAIHQLKVNGEDPYPHKFHVDISLTDFIQKYSHLQPGDH
LTDITLKVAGRIHAKRASGGKLIFYDLRGEGVKLQVMANSRNYKSEEEFIHINNKLRRGD
IIGVQGNPGKTKKGELSIIPYEITLLSPCLHMLPHLHFGLKDKETRYRQRYLDLILNDFV
RQKFIIRSKIITYIRSFLDELGFLEIETPMMNIIPGGAVAKPFITYHNELDMNLYMRIAP
ELYHKMLVVGGIDRVYEIGRQFRNEGIDLTHNPEFTTCEFYMAYADYHDLMEITEKMVSG
MVKHITGSYKVTYHPDGPEGQAYDVDFTPPFRRINMVEELEKALGMKLPETNLFETEETR
KILDDICVAKAVECPPPRTTARLLDKLVGEFLEVTCINPTFICDHPQIMSPLAKWHRSKE
GLTERFELFVMKKEICNAYTELNDPMRQRQLFEEQAKAKAAGDDEAMFIDENFCTALEYG
LPPTAGWGMGIDRVAMFLTDSNNIKEVLLFPAMKPEDKKENVATTDTLESTTVGTSV
NT seq 1794 nt   +upstreamnt  +downstreamnt
atggcggccgtgcaggcggccgaggtgaaagtggatggcagcgagccgaaactgagcaag
aatgagctgaagagacgcctgaaagctgagaagaaagtagcagagaaggaggccaaacag
aaagagctcagtgagaaacagctaagccaagccactgctgctgccaccaaccacaccact
gataatggtgtgggtcctgaggaagagagcgtggacccaaatcaatactacaaaatccgc
agtcaagcaattcatcagctgaaggtcaatggggaagacccatacccacacaagttccat
gtagacatctcactcactgacttcatccaaaaatatagtcacctgcagcctggggatcac
ctgactgacatcaccttaaaggtggcaggtaggatccatgccaaaagagcttctggggga
aagctcatcttctatgatcttcgaggagagggggtgaagttgcaagtcatggccaattcc
agaaattataaatcagaagaagaatttattcatattaataacaaactgcgtcggggagac
ataattggagttcaggggaatcctggtaaaaccaagaagggtgagctgagcatcattccg
tatgagatcacactgctgtctccctgtttgcatatgttacctcatcttcactttggcctc
aaagacaaggaaacaaggtatcgccagagatacttggacttgatcctgaatgactttgtg
aggcagaaatttatcatccgctctaagatcatcacatatataagaagtttcttagatgag
ctgggattcctagagattgaaactcccatgatgaacatcatcccagggggagccgtggcc
aagcctttcatcacttatcacaacgagctggacatgaacttatatatgagaattgctcca
gaactctatcataagatgcttgtggttggtggcatcgaccgggtttatgaaattggacgc
cagttccggaatgaggggattgatttgacgcacaatcctgagttcaccacctgtgagttc
tacatggcctatgcagactatcacgatctcatggaaatcacggagaagatggtttcaggg
atggtgaagcatattacaggcagttacaaggtcacctaccacccagatggcccagagggc
caagcctacgatgttgacttcaccccacccttccggcgaatcaacatggtagaagagctt
gagaaagccctggggatgaagctgccagaaacgaacctctttgaaactgaagaaactcgc
aaaattcttgatgatatctgtgtggcaaaagctgttgaatgccctccacctcggaccaca
gccaggctccttgacaagcttgttggggagttcctggaagtgacttgcatcaatcctaca
ttcatctgtgatcacccacagataatgagccctttggctaaatggcaccgctctaaagag
ggtctgactgagcgctttgagctgtttgtcatgaagaaagagatatgcaatgcgtatact
gagctgaatgatcccatgcggcagcggcagctttttgaagaacaggccaaggccaaggct
gcaggtgatgatgaggccatgttcatagatgaaaacttctgtactgccctggaatatggg
ctgccccccacagctggctggggcatgggcattgatcgagtcgccatgtttctcacggac
tccaacaacatcaaggaagtacttctgtttcctgccatgaaacccgaagacaagaaggag
aatgtagcaaccactgatacactggaaagcacaacagttggcacttctgtctag

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