KEGG   Homo sapiens (human): 16
Entry
16                CDS       T01001                                 
Symbol
AARS1, AARS, CMT2N, DEE29, EIEE29, HDLS2, TTD8
Name
(RefSeq) alanyl-tRNA synthetase 1
  KO
K01872  alanyl-tRNA synthetase [EC:6.1.1.7]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00970  Aminoacyl-tRNA biosynthesis
Disease
H00264  Charcot-Marie-Tooth disease
H00606  Early infantile epileptic encephalopathy
H00866  Trichothiodystrophy
H01807  Hereditary diffuse leukoencephalopathy with spheroids
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   00970 Aminoacyl-tRNA biosynthesis
    16 (AARS1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01007 Amino acid related enzymes [BR:hsa01007]
    16 (AARS1)
  09182 Protein families: genetic information processing
   03016 Transfer RNA biogenesis [BR:hsa03016]
    16 (AARS1)
Enzymes [BR:hsa01000]
 6. Ligases
  6.1  Forming carbon-oxygen bonds
   6.1.1  Ligases forming aminoacyl-tRNA and related compounds
    6.1.1.7  alanine---tRNA ligase
     16 (AARS1)
Amino acid related enzymes [BR:hsa01007]
 Aminoacyl-tRNA synthetase
  Class II (C/G)
   16 (AARS1)
Transfer RNA biogenesis [BR:hsa03016]
 Eukaryotic type
  Aminoacyl-tRNA synthetases (AARSs)
   Other AARSs
    16 (AARS1)
 Prokaryotic type
    16 (AARS1)
SSDB
Motif
Pfam: tRNA-synt_2c DHHA1 tRNA_SAD TSKS Med11 RPN6_N
Other DBs
NCBI-GeneID: 16
NCBI-ProteinID: NP_001596
OMIM: 601065
HGNC: 20
Ensembl: ENSG00000090861
UniProt: P49588
Structure
Position
16:complement(70252298..70289506)
AA seq 968 aa
MDSTLTASEIRQRFIDFFKRNEHTYVHSSATIPLDDPTLLFANAGMNQFKPIFLNTIDPS
HPMAKLSRAANTQKCIRAGGKHNDLDDVGKDVYHHTFFEMLGSWSFGDYFKELACKMALE
LLTQEFGIPIERLYVTYFGGDEAAGLEADLECKQIWQNLGLDDTKILPGNMKDNFWEMGD
TGPCGPCSEIHYDRIGGRDAAHLVNQDDPNVLEIWNLVFIQYNREADGILKPLPKKSIDT
GMGLERLVSVLQNKMSNYDTDLFVPYFEAIQKGTGARPYTGKVGAEDADGIDMAYRVLAD
HARTITVALADGGRPDNTGRGYVLRRILRRAVRYAHEKLNASRGFFATLVDVVVQSLGDA
FPELKKDPDMVKDIINEEEVQFLKTLSRGRRILDRKIQSLGDSKTIPGDTAWLLYDTYGF
PVDLTGLIAEEKGLVVDMDGFEEERKLAQLKSQGKGAGGEDLIMLDIYAIEELRARGLEV
TDDSPKYNYHLDSSGSYVFENTVATVMALRREKMFVEEVSTGQECGVVLDKTCFYAEQGG
QIYDEGYLVKVDDSSEDKTEFTVKNAQVRGGYVLHIGTIYGDLKVGDQVWLFIDEPRRRP
IMSNHTATHILNFALRSVLGEADQKGSLVAPDRLRFDFTAKGAMSTQQIKKAEEIANEMI
EAAKAVYTQDCPLAAAKAIQGLRAVFDETYPDPVRVVSIGVPVSELLDDPSGPAGSLTSV
EFCGGTHLRNSSHAGAFVIVTEEAIAKGIRRIVAVTGAEAQKALRKAESLKKCLSVMEAK
VKAQTAPNKDVQREIADLGEALATAVIPQWQKDELRETLKSLKKVMDDLDRASKADVQKR
VLEKTKQFIDSNPNQPLVILEMESGASAKALNEALKLFKMHSPQTSAMLFTVDNEAGKIT
CLCQVPQNAANRGLKASEWVQQVSGLMDGKGGGKDVSAQATGKNVGCLQEALQLATSFAQ
LRLGDVKN
NT seq 2907 nt   +upstreamnt  +downstreamnt
atggactctactctaacagcaagtgaaatccggcagcgatttatagatttcttcaagagg
aacgagcatacgtatgttcactcgtctgccaccatcccattggatgaccccactttgctc
tttgccaatgcaggcatgaaccagtttaaacccattttcctgaacacaattgacccatct
caccccatggcaaagctgagcagagctgccaatacccagaagtgcatccgggctgggggc
aaacataatgacctggacgatgtgggcaaggatgtctatcatcacaccttcttcgagatg
ctgggctcttggtcttttggagattactttaaggaattggcatgtaagatggctctggaa
ctcctcacccaagagtttggcattcccattgaaagactttatgttacttactttggcggg
gatgaagcagctggcttagaagcagatctggaatgcaaacagatctggcaaaatttgggg
ctggatgacaccaaaatcctcccaggcaacatgaaggataacttctgggagatgggtgac
acgggcccctgtggtccttgcagtgagatccactacgaccggattggtggtcgggacgcc
gcacatcttgtcaaccaggacgaccctaatgtgctggagatctggaaccttgtgttcatc
cagtataacagggaagctgatggcattctgaaacctcttcccaagaaaagcattgacaca
gggatgggcctggaacgactggtatctgtgctgcagaataagatgtccaactatgacact
gacctttttgtcccttactttgaagccattcagaagggcacaggtgcccgaccatacact
gggaaagttggtgctgaggatgccgatgggattgacatggcctaccgggtgctggctgac
cacgctcggaccatcactgtggcactggctgatggtggccggcctgacaacacagggcgt
ggatatgtgttgagacggattctccgccgagctgtccgatacgcccatgaaaagctcaat
gccagcaggggcttctttgctacgttagtggatgttgtcgtccagtccctgggagatgca
tttcctgagctgaagaaggacccagacatggtgaaggacatcattaatgaagaagaggtg
cagtttctcaagactctcagcagagggcgtcgcatcctggacaggaaaattcagagcctg
ggagacagcaagaccattcccggagacactgcttggctcctctatgacacctatgggttt
ccagtggatctgactggactgattgctgaagagaagggcctggtggtagacatggatggc
tttgaagaggagaggaaactggcccagctgaaatcacagggcaagggagctggtggggaa
gacctcattatgctggacatttacgctatcgaagagctccgggcacggggtctggaggtc
acagatgattccccaaagtacaattaccatttggactccagtggtagctatgtatttgag
aacacagtggctacggtgatggctctgcgcagggagaagatgttcgtggaagaggtgtcc
acaggccaggagtgtggagtggtgctggacaagacctgtttctatgctgagcaaggaggc
cagatctatgacgaaggctacctggtgaaggtggatgacagcagtgaagataaaacagag
tttacagtgaagaatgctcaggtccgaggagggtatgtgctacacattggaaccatctac
ggtgacctgaaagtgggggatcaggtctggctgtttattgatgagccccgacgaagaccc
atcatgagcaaccacacagctacgcacattctgaacttcgccctgcgctcagtgcttggg
gaagctgaccagaaaggctcattggttgctcctgaccgcctcagatttgactttactgcc
aagggagccatgtccacccaacagatcaagaaggctgaagagattgctaatgagatgatt
gaggcagccaaggccgtctatacccaggattgccccctggcagcagcgaaagccatccag
ggcctacgggctgtgtttgatgagacctatcctgaccctgtgcgagtcgtctccattggg
gtcccggtgtccgagttgctggatgacccctctgggcctgctggctccctgacttctgtt
gagttctgtgggggaacgcacctgcggaactcgagtcatgcaggagcttttgtgatcgtg
acggaagaagccattgccaagggtatccggaggattgtggctgtcacaggtgccgaggcc
cagaaggccctcaggaaagcagagagcttgaagaaatgtctctctgtcatggaagccaaa
gtgaaggctcagactgctccaaacaaggatgtgcagagggagatcgctgaccttggagag
gccctggccactgcagtcatcccccagtggcagaaggatgaattgcgggagactctcaaa
tccctaaagaaggtcatggatgacttggaccgagccagcaaagccgatgtccagaaacga
gtgttagagaagacgaagcagttcatcgacagcaaccccaaccagcctcttgtcatcctg
gagatggagagcggcgcctcagccaaggccctgaatgaagccttgaagctcttcaagatg
cactcccctcagacttctgccatgctcttcacggtggacaatgaggctggcaagatcacg
tgcctgtgtcaagttccccagaatgcagccaatcggggcttaaaagccagcgagtgggtg
cagcaggtgtcaggcttgatggacggtaaaggtggtggcaaggatgtgtctgcacaggcc
acaggcaagaacgttggctgcctgcaggaggcgctgcagctggccacttccttcgcccag
ctgcgcctcggggatgtaaagaactga

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Ontology (4)   
   KEGG BRITE (4)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (9)   
   KEGG DISEASE (4)   
   OMIM (5)   
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 (7)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (21)   
   RefSeq(nuc) (3)   
   GenBank (9)   
   EMBL (9)   
3D Structure (6)   
   PDB (6)   
Protein domain (6)   
   Pfam (6)   
All databases (77)   

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