KEGG   Homo sapiens (human): 3035
Entry
3035              CDS       T01001                                 
Symbol
HARS1, CMT2W, HARS, HRS, USH3B
Name
(RefSeq) histidyl-tRNA synthetase 1
  KO
K01892  histidyl-tRNA synthetase [EC:6.1.1.21]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00970  Aminoacyl-tRNA biosynthesis
Disease
H00264  Charcot-Marie-Tooth disease
H00779  Usher syndrome
Drug target
Efzofitimod: D12612
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   00970 Aminoacyl-tRNA biosynthesis
    3035 (HARS1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01007 Amino acid related enzymes [BR:hsa01007]
    3035 (HARS1)
  09182 Protein families: genetic information processing
   03016 Transfer RNA biogenesis [BR:hsa03016]
    3035 (HARS1)
Enzymes [BR:hsa01000]
 6. Ligases
  6.1  Forming carbon-oxygen bonds
   6.1.1  Ligases forming aminoacyl-tRNA and related compounds
    6.1.1.21  histidine---tRNA ligase
     3035 (HARS1)
Amino acid related enzymes [BR:hsa01007]
 Aminoacyl-tRNA synthetase
  Class II (A)
   3035 (HARS1)
Transfer RNA biogenesis [BR:hsa03016]
 Eukaryotic type
  Aminoacyl-tRNA synthetases (AARSs)
   Other AARSs
    3035 (HARS1)
 Prokaryotic type
    3035 (HARS1)
SSDB
Motif
Pfam: tRNA-synt_His HGTP_anticodon HGTP_anticodon2 WHEP-TRS HHH_3 Sugarporin_N tRNA-synt_2d tRNA-synt_2 Virul_Fac
Other DBs
NCBI-GeneID: 3035
NCBI-ProteinID: NP_002100
OMIM: 142810
HGNC: 4816
Ensembl: ENSG00000170445
UniProt: P12081
Structure
Position
5:complement(140673905..140691370)
AA seq 509 aa
MAERAALEELVKLQGERVRGLKQQKASAELIEEEVAKLLKLKAQLGPDESKQKFVLKTPK
GTRDYSPRQMAVREKVFDVIIRCFKRHGAEVIDTPVFELKETLMGKYGEDSKLIYDLKDQ
GGELLSLRYDLTVPFARYLAMNKLTNIKRYHIAKVYRRDNPAMTRGRYREFYQCDFDIAG
NFDPMIPDAECLKIMCEILSSLQIGDFLVKVNDRRILDGMFAICGVSDSKFRTICSSVDK
LDKVSWEEVKNEMVGEKGLAPEVADRIGDYVQQHGGVSLVEQLLQDPKLSQNKQALEGLG
DLKLLFEYLTLFGIDDKISFDLSLARGLDYYTGVIYEAVLLQTPAQAGEEPLGVGSVAAG
GRYDGLVGMFDPKGRKVPCVGLSIGVERIFSIVEQRLEALEEKIRTTETQVLVASAQKKL
LEERLKLVSELWDAGIKAELLYKKNPKLLNQLQYCEEAGIPLVAIIGEQELKDGVIKLRS
VTSREEVDVRREDLVEEIKRRTGQPLCIC
NT seq 1530 nt   +upstreamnt  +downstreamnt
atggcagagcgtgcggcgctggaggagctggtgaaacttcagggagagcgcgtgcgaggc
ctcaagcagcagaaggccagcgccgagctgatcgaggaggaggtggcgaaactcctgaaa
ctgaaggcacagctgggtcctgatgaaagcaaacagaaatttgtgctcaaaacccccaag
ggcacaagagactatagtccccggcagatggcagttcgcgagaaggtgtttgacgtaatc
atccgttgcttcaagcgccacggtgcagaagtcattgatacacctgtatttgaactaaag
gaaacactgatgggaaagtatggggaagactccaagcttatctatgacctgaaggaccag
ggcggggagctcctgtcccttcgctatgacctcactgttccttttgctcggtatttggca
atgaataaactgaccaacattaaacgctaccacatagcaaaggtatatcggcgggataac
ccagccatgacccgtggccgataccgggaattctaccagtgtgattttgacattgctggg
aactttgatcccatgatccctgatgcagagtgcctgaagatcatgtgcgagatcctgagt
tcacttcagataggcgacttcctggtcaaggtaaacgatcgacgcattctagatgggatg
tttgctatctgtggtgtttctgacagcaagttccgtaccatctgctcctcagtagacaag
ctggacaaggtgtcctgggaagaggtgaagaatgagatggtgggagagaagggccttgca
cctgaggtggctgaccgcattggggactatgtccagcaacatggtggggtatccctggtg
gaacagctgctccaggatcctaaactatcccaaaacaagcaggccttggagggcctggga
gacctgaagttgctctttgagtacctgaccctatttggcattgatgacaaaatctccttt
gacctgagccttgctcgagggctggattactacactggggtgatctatgaggcagtgctg
ctacagaccccagcccaggcaggggaagagcccctgggtgtgggcagtgtggctgctgga
ggacgctatgatgggctagtgggcatgttcgaccccaaagggcgcaaggtgccatgtgtg
gggctcagcattggggtggagcggattttctccatcgtggaacagagactagaggctttg
gaggagaagatacggaccacggagacacaggtgcttgtggcatctgcacagaagaagctg
ctagaggaaagactaaagcttgtctcagaactgtgggatgctgggatcaaggctgagctg
ctgtacaagaagaacccaaagctactgaaccagttacagtactgtgaggaggcaggcatc
ccactggtggctatcatcggcgagcaggaactcaaggatggggtcatcaagctccgttca
gtgacgagcagggaagaggtggatgtccgaagagaagaccttgtggaggaaatcaaaagg
agaacaggccagcccctctgcatctgctga

  All links  
Disease (3)   
   OMIM (3)   
Gene (13)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (9)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (7)   
DNA sequence (43)   
   RefSeq(nuc) (7)   
   GenBank (18)   
   EMBL (18)   
3D Structure (10)   
   PDB (10)   
Protein domain (9)   
   Pfam (9)   
All databases (87)   

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