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

  All links  
Disease (5)   
   OMIM (5)   
Gene (24)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (13)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (23)   
   RefSeq(nuc) (3)   
   GenBank (10)   
   EMBL (10)   
3D Structure (14)   
   PDB (14)   
Protein domain (4)   
   Pfam (4)   
All databases (75)   

Download RDF
DBGET integrated database retrieval system