KEGG   Homo sapiens (human): 3035
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)
SSDB
Motif
Pfam: tRNA-synt_His HGTP_anticodon HGTP_anticodon2 WHEP-TRS HHH_3 tRNA-synt_2 Virul_Fac tRNA-synt_2d Imm51
Other DBs
NCBI-GeneID: 3035
NCBI-ProteinID: NP_002100
OMIM: 142810
HGNC: 4816
Ensembl: ENSG00000170445
Vega: OTTHUMG00000129502
Pharos: P12081(Tchem)
UniProt: P12081
Structure
PDB: 

Position
5q31.3
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

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Ontology (4)   
   KEGG BRITE (4)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Chemical substance (6)   
   KEGG COMPOUND (6)   
Chemical reaction (2)   
   KEGG ENZYME (1)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (16)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (9)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (7)   
DNA sequence (43)   
   RefSeq(nuc) (7)   
   GenBank (18)   
   EMBL (18)   
Protein domain (9)   
   Pfam (9)   
All databases (96)   

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