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 ARPP-2 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

  All links  
Disease (5)   
   OMIM (5)   
Gene (15)   
   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 (7)   
   Pfam (7)   
All databases (59)   

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