KEGG   Homo sapiens (human): 3035Help
Entry
3035              CDS       T01001                                 

Gene name
HARS1, CMT2W, HARS, HRS, USH3B
Definition
(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 (US)
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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: tRNA-synt_His HGTP_anticodon HGTP_anticodon2 WHEP-TRS HHH_3 tRNA-synt_2 Virul_Fac Sugarporin_N
Motif
Other DBs
NCBI-GeneID: 3035
NCBI-ProteinID: NP_002100
OMIM: 142810
HGNC: 4816
Ensembl: ENSG00000170445
Vega: OTTHUMG00000129502
Pharos: P12081(Tchem)
UniProt: P12081
LinkDB All DBs
Structure
PDB: 

Position
5q31.3
AA seq 509 aa AA seqDB search
MAERAALEELVKLQGERVRGLKQQKASAELIEEEVAKLLKLKAQLGPDESKQKFVLKTPK
GTRDYSPRQMAVREKVFDVIIRCFKRHGAEVIDTPVFELKETLMGKYGEDSKLIYDLKDQ
GGELLSLRYDLTVPFARYLAMNKLTNIKRYHIAKVYRRDNPAMTRGRYREFYQCDFDIAG
NFDPMIPDAECLKIMCEILSSLQIGDFLVKVNDRRILDGMFAICGVSDSKFRTICSSVDK
LDKVSWEEVKNEMVGEKGLAPEVADRIGDYVQQHGGVSLVEQLLQDPKLSQNKQALEGLG
DLKLLFEYLTLFGIDDKISFDLSLARGLDYYTGVIYEAVLLQTPAQAGEEPLGVGSVAAG
GRYDGLVGMFDPKGRKVPCVGLSIGVERIFSIVEQRLEALEEKIRTTETQVLVASAQKKL
LEERLKLVSELWDAGIKAELLYKKNPKLLNQLQYCEEAGIPLVAIIGEQELKDGVIKLRS
VTSREEVDVRREDLVEEIKRRTGQPLCIC
NT seq 1530 nt NT seq  +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

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