Homo sapiens (human): 55699
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Entry
55699 CDS
T01001
Symbol
IARS2, CAGSSS, ILERS
Name
(RefSeq) isoleucyl-tRNA synthetase 2, mitochondrial
KO
K01870
isoleucyl-tRNA synthetase [EC:
6.1.1.5
]
Organism
hsa
Homo sapiens (human)
Pathway
hsa00970
Aminoacyl-tRNA biosynthesis
Disease
H02232
CAGSSS syndrome
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09120 Genetic Information Processing
09122 Translation
00970 Aminoacyl-tRNA biosynthesis
55699 (IARS2)
09180 Brite Hierarchies
09181 Protein families: metabolism
01007 Amino acid related enzymes [BR:
hsa01007
]
55699 (IARS2)
09182 Protein families: genetic information processing
03016 Transfer RNA biogenesis [BR:
hsa03016
]
55699 (IARS2)
Enzymes [BR:
hsa01000
]
6. Ligases
6.1 Forming carbon-oxygen bonds
6.1.1 Ligases forming aminoacyl-tRNA and related compounds
6.1.1.5 isoleucine---tRNA ligase
55699 (IARS2)
Amino acid related enzymes [BR:
hsa01007
]
Aminoacyl-tRNA synthetase
Class I (U)
55699 (IARS2)
Transfer RNA biogenesis [BR:
hsa03016
]
Eukaryotic type
Aminoacyl-tRNA synthetases (AARSs)
Multi-aminoacyl-tRNA synthetase complex (MSC)
55699 (IARS2)
Prokaryotic type
Other AARSs
55699 (IARS2)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
tRNA-synt_1
Anticodon_1
tRNA-synt_1g
tRNA-synt_1_2
zf-FPG_IleRS
DZR_2
Motif
Other DBs
NCBI-GeneID:
55699
NCBI-ProteinID:
NP_060530
OMIM:
612801
HGNC:
29685
Ensembl:
ENSG00000067704
UniProt:
Q9NSE4
LinkDB
All DBs
Position
1:220094132..220148041
Genome browser
AA seq
1012 aa
AA seq
DB search
MRWGLRPRGPGAAALATARSLWGTPRLPCSPGWQGATKRLLVRSVSGASNHQPNSNSGRY
RDTVLLPQTSFPMKLLGRQQPDTELEIQQKCGFSELYSWQRERKVKTEFCLHDGPPYANG
DPHVGHALNKILKDIANRFHMMNGSKIHFVPGWDCHGLPIEIKVLSELGREAQNLSAMEI
RKKARSFAKAAIEKQKSAFIRWGIMADWNNCYYTFDGKYEAKQLRTFYQMYDKGLVYRSY
KPVFWSPSSRTALAEAELEYNPEHVSRSIYVKFPLLKPSPKLASLIDGSSPVSILVWTTQ
PWTIPANEAVCYMPESKYAVVKCSKSGDLYVLAADKVASVASTLETTFETISTLSGVDLE
NGTCSHPLIPDKASPLLPANHVTMAKGTGLVHTAPAHGMEDYGVASQHNLPMDCLVDEDG
VFTDVAGPELQNKAVLEEGTDVVIKMLQTAKNLLKEEKLVHSYPYDWRTKKPVVIRASKQ
WFINITDIKTAAKELLKKVKFIPGSALNGMVEMMDRRPYWCISRQRVWGVPIPVFHHKTK
DEYLINSQTTEHIVKLVEQHGSDIWWTLPPEQLLPKEVLSEVGGPDALEYVPGQDILDIW
FDSGTSWSYVLPGPDQRADLYLEGKDQLGGWFQSSLLTSVAARKRAPYKTVIVHGFTLGE
KGEKMSKSLGNVIHPDVVVNGGQDQSKEPPYGADVLRWWVADSNVFTEVAIGPSVLNAAR
DDISKLRNTLRFLLGNVADFNPETDSIPVNDMYVIDQYMLHLLQDLANKITELYKQYDFG
KVVRLLRTFYTRELSNFYFSIIKDRLYCEKENDPKRRSCQTALVEILDVIVRSFAPILPH
LAEEVFQHIPYIKEPKSVFRTGWISTSSIWKKPGLEEAVESACAMRDSFLGSIPGKNAAE
YKVITVIEPGLLFEIIEMLQSEETSSTSQLNELMMASESTLLAQEPREMTADVIELKGKF
LINLEGGDIREESSYKVIVMPTTKEKCPRCWKYTAESSDTLCPRCAEVVSGK
NT seq
3039 nt
NT seq
+upstream
nt +downstream
nt
atgcgttgggggctgcgccctcgcgggccgggcgcggccgccctggccactgcccgaagt
ttgtgggggacgccccgccttccctgcagcccgggatggcaaggggcgacgaagaggctt
ctggtgcggtcggtctccggggccagtaaccaccagccgaactcgaatagtggcagatac
cgggacacggtgctgctgccgcagacgagcttccccatgaagctgctgggccgccagcag
ccggacacggagctggagatccagcagaaatgtggattttcagaactttattcatggcaa
agagaaagaaaagtaaagacagaattttgccttcatgatggacctccttatgcaaacggt
gaccctcatgttggacatgctttaaataagattttgaaagacatagccaatcgattccat
atgatgaatggctccaaaatacattttgtgcccggctgggattgtcatgggttgcccatt
gaaataaaagtattatcagaacttggtagagaagctcagaatctttcagctatggaaatt
agaaagaaagctagatcatttgctaaagcagccattgagaaacagaaatcagcatttatt
cgttggggaataatggcagattggaataattgctactatacatttgatgggaagtatgaa
gccaaacagttgagaactttttaccaaatgtatgataagggcttggtttatcgatcttac
aaacctgtgttttggtctccgtcatctaggactgcattggctgaagcagaacttgaatat
aatcctgagcatgtcagtcgttcaatatatgtaaaatttcctctcttaaagccttctcca
aaattggcatctcttatagatggttcatctcctgttagtattttggtctggaccacacaa
ccttggacgattccagccaatgaagctgtttgctatatgcctgaatcaaagtatgctgtt
gtgaaatgttctaagtctggagacctctacgtactggcggcagataaagtagcatctgtt
gcttctactttggaaacaacatttgagactatttcaacactttcaggtgtagatttggaa
aatggtacttgcagtcatccattaattcctgataaagcctctcctcttttacctgcaaat
catgtgaccatggcaaaaggaacgggattggttcacacagccccagctcatggtatggaa
gactacggtgtagcgtctcagcacaacctgcccatggattgtctagtggacgaagatgga
gttttcacagatgttgcaggtcctgaacttcaaaacaaggctgtccttgaagagggaact
gatgtggttataaagatgcttcagactgcaaagaatttgttgaaagaggagaaattggtg
catagctatccgtatgactggaggaccaagaaacctgtggttattcgtgccagcaagcag
tggtttataaacatcacggatattaagactgcagccaaggaattgttaaaaaaggtgaaa
tttattcctggatcagcactgaatggcatggttgaaatgatggacaggcggccatattgg
tgtatatcaaggcaaagagtttggggtgttccaattcctgtgtttcatcataagaccaag
gatgaatacttgatcaacagccaaaccactgagcatattgttaaactagtggaacaacac
ggcagtgatatctggtggactcttccccctgaacaacttcttccaaaagaagtcttatct
gaggttggtggccctgatgccttggaatatgtgccaggtcaggatattttggacatctgg
tttgatagcggaacttcatggtcttatgttcttccaggtcctgaccaaagagcagatttg
tacttggaaggaaaagaccagctcgggggttggtttcagtcatccttattaacaagtgtg
gcagcaaggaagagagcaccttataagacagtgattgttcatggatttacccttggagaa
aagggagaaaagatgtccaagtctcttgggaatgtcattcatcctgatgttgtcgttaat
ggaggacaagatcaaagcaaagagcctccgtatggtgctgatgtccttcgctggtgggta
gctgattccaatgtcttcaccgaagttgcaattggcccatccgtgctcaatgctgccaga
gatgatattagcaagcttaggaatacacttcgctttcttttgggaaatgtggctgatttc
aacccagaaacagattccatccctgtaaacgatatgtatgtcatagaccagtacatgcta
cacttactgcaggatttggcaaacaagattaccgaattatacaaacaatatgattttgga
aaagttgttcggctgttacggacgttttataccagagagctctctaacttttatttcagt
ataatcaaagataggctctattgtgaaaaggaaaatgaccccaaacgacgctcttgtcag
actgcattagttgaaattttggatgtaatagttcgttcttttgctcccattcttcctcac
ctggctgaagaggtgttccagcacataccttatattaaagagcccaagagtgttttccgt
actgggtggattagtactagttctatctggaaaaagcccgggttggaagaagctgtggag
agtgcgtgtgcaatgcgagactcatttcttggaagcatccctggcaaaaatgcagctgag
tacaaggttatcactgtgatagaacctggactgctttttgagataatagagatgctgcag
tctgaagagacttccagcacctctcagttgaatgaattaatgatggcttctgagtcaact
ttactggctcaggaaccacgagagatgactgcagatgtaatcgagcttaaagggaaattc
ctcatcaacttagaaggtggtgatattcgtgaagagtcttcctataaagtaattgtcatg
ccgactacgaaagaaaaatgcccccgttgttggaagtatacagcggagtcttcagataca
ctgtgtcctcgatgtgcagaagttgtcagtggaaaatag
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