Homo sapiens (human): 16
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
tRNA-synt_2c
DHHA1
tRNA_SAD
TSKS
Med11
ARPP-2
RPN6_N
Motif
Other DBs
NCBI-GeneID:
16
NCBI-ProteinID:
NP_001596
OMIM:
601065
HGNC:
20
Ensembl:
ENSG00000090861
UniProt:
P49588
Structure
PDB
PDBj
LinkDB
All DBs
Position
16:complement(70252298..70289506)
Genome browser
AA seq
968 aa
AA seq
DB search
MDSTLTASEIRQRFIDFFKRNEHTYVHSSATIPLDDPTLLFANAGMNQFKPIFLNTIDPS
HPMAKLSRAANTQKCIRAGGKHNDLDDVGKDVYHHTFFEMLGSWSFGDYFKELACKMALE
LLTQEFGIPIERLYVTYFGGDEAAGLEADLECKQIWQNLGLDDTKILPGNMKDNFWEMGD
TGPCGPCSEIHYDRIGGRDAAHLVNQDDPNVLEIWNLVFIQYNREADGILKPLPKKSIDT
GMGLERLVSVLQNKMSNYDTDLFVPYFEAIQKGTGARPYTGKVGAEDADGIDMAYRVLAD
HARTITVALADGGRPDNTGRGYVLRRILRRAVRYAHEKLNASRGFFATLVDVVVQSLGDA
FPELKKDPDMVKDIINEEEVQFLKTLSRGRRILDRKIQSLGDSKTIPGDTAWLLYDTYGF
PVDLTGLIAEEKGLVVDMDGFEEERKLAQLKSQGKGAGGEDLIMLDIYAIEELRARGLEV
TDDSPKYNYHLDSSGSYVFENTVATVMALRREKMFVEEVSTGQECGVVLDKTCFYAEQGG
QIYDEGYLVKVDDSSEDKTEFTVKNAQVRGGYVLHIGTIYGDLKVGDQVWLFIDEPRRRP
IMSNHTATHILNFALRSVLGEADQKGSLVAPDRLRFDFTAKGAMSTQQIKKAEEIANEMI
EAAKAVYTQDCPLAAAKAIQGLRAVFDETYPDPVRVVSIGVPVSELLDDPSGPAGSLTSV
EFCGGTHLRNSSHAGAFVIVTEEAIAKGIRRIVAVTGAEAQKALRKAESLKKCLSVMEAK
VKAQTAPNKDVQREIADLGEALATAVIPQWQKDELRETLKSLKKVMDDLDRASKADVQKR
VLEKTKQFIDSNPNQPLVILEMESGASAKALNEALKLFKMHSPQTSAMLFTVDNEAGKIT
CLCQVPQNAANRGLKASEWVQQVSGLMDGKGGGKDVSAQATGKNVGCLQEALQLATSFAQ
LRLGDVKN
NT seq
2907 nt
NT seq
+upstream
nt +downstream
nt
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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integrated database retrieval system