KEGG   Homo sapiens (human): 55699
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)
SSDB
Motif
Pfam: tRNA-synt_1 Anticodon_1 tRNA-synt_1g tRNA-synt_1_2 zf-FPG_IleRS DZR_2
Other DBs
NCBI-GeneID: 55699
NCBI-ProteinID: NP_060530
OMIM: 612801
HGNC: 29685
Ensembl: ENSG00000067704
UniProt: Q9NSE4
Position
1:220094132..220148041
AA seq 1012 aa
MRWGLRPRGPGAAALATARSLWGTPRLPCSPGWQGATKRLLVRSVSGASNHQPNSNSGRY
RDTVLLPQTSFPMKLLGRQQPDTELEIQQKCGFSELYSWQRERKVKTEFCLHDGPPYANG
DPHVGHALNKILKDIANRFHMMNGSKIHFVPGWDCHGLPIEIKVLSELGREAQNLSAMEI
RKKARSFAKAAIEKQKSAFIRWGIMADWNNCYYTFDGKYEAKQLRTFYQMYDKGLVYRSY
KPVFWSPSSRTALAEAELEYNPEHVSRSIYVKFPLLKPSPKLASLIDGSSPVSILVWTTQ
PWTIPANEAVCYMPESKYAVVKCSKSGDLYVLAADKVASVASTLETTFETISTLSGVDLE
NGTCSHPLIPDKASPLLPANHVTMAKGTGLVHTAPAHGMEDYGVASQHNLPMDCLVDEDG
VFTDVAGPELQNKAVLEEGTDVVIKMLQTAKNLLKEEKLVHSYPYDWRTKKPVVIRASKQ
WFINITDIKTAAKELLKKVKFIPGSALNGMVEMMDRRPYWCISRQRVWGVPIPVFHHKTK
DEYLINSQTTEHIVKLVEQHGSDIWWTLPPEQLLPKEVLSEVGGPDALEYVPGQDILDIW
FDSGTSWSYVLPGPDQRADLYLEGKDQLGGWFQSSLLTSVAARKRAPYKTVIVHGFTLGE
KGEKMSKSLGNVIHPDVVVNGGQDQSKEPPYGADVLRWWVADSNVFTEVAIGPSVLNAAR
DDISKLRNTLRFLLGNVADFNPETDSIPVNDMYVIDQYMLHLLQDLANKITELYKQYDFG
KVVRLLRTFYTRELSNFYFSIIKDRLYCEKENDPKRRSCQTALVEILDVIVRSFAPILPH
LAEEVFQHIPYIKEPKSVFRTGWISTSSIWKKPGLEEAVESACAMRDSFLGSIPGKNAAE
YKVITVIEPGLLFEIIEMLQSEETSSTSQLNELMMASESTLLAQEPREMTADVIELKGKF
LINLEGGDIREESSYKVIVMPTTKEKCPRCWKYTAESSDTLCPRCAEVVSGK
NT seq 3039 nt   +upstreamnt  +downstreamnt
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

  All links  
Ontology (4)   
   KEGG BRITE (4)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical substance (6)   
   KEGG COMPOUND (6)   
Chemical reaction (2)   
   KEGG ENZYME (1)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (17)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (27)   
   RefSeq(nuc) (1)   
   GenBank (13)   
   EMBL (13)   
Protein domain (6)   
   Pfam (6)   
All databases (70)   

Download RDF
DBGET integrated database retrieval system