KEGG   Homo sapiens (human): 57505
Entry
57505             CDS       T01001                                 
Symbol
AARS2, AARSL, COXPD8, LKENP, MT-ALARS, MTALARS
Name
(RefSeq) alanyl-tRNA synthetase 2, mitochondrial
  KO
K01872  alanyl-tRNA synthetase [EC:6.1.1.7]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00970  Aminoacyl-tRNA biosynthesis
Disease
H00891  Combined oxidative phosphorylation deficiency
H02200  Leukoencephalopathy, progressive, with ovarian failure
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   00970 Aminoacyl-tRNA biosynthesis
    57505 (AARS2)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01007 Amino acid related enzymes [BR:hsa01007]
    57505 (AARS2)
  09182 Protein families: genetic information processing
   03016 Transfer RNA biogenesis [BR:hsa03016]
    57505 (AARS2)
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
     57505 (AARS2)
Amino acid related enzymes [BR:hsa01007]
 Aminoacyl-tRNA synthetase
  Class II (C/G)
   57505 (AARS2)
Transfer RNA biogenesis [BR:hsa03016]
 Eukaryotic type
  Aminoacyl-tRNA synthetases (AARSs)
   Other AARSs
    57505 (AARS2)
 Prokaryotic type
    57505 (AARS2)
SSDB
Motif
Pfam: tRNA-synt_2c tRNA_SAD DHHA1 Cas3_C
Other DBs
NCBI-GeneID: 57505
NCBI-ProteinID: NP_065796
OMIM: 612035
HGNC: 21022
Ensembl: ENSG00000124608
UniProt: Q5JTZ9
Structure
Position
6:complement(44298731..44313347)
AA seq 985 aa
MAASVAAAARRLRRAIRRSPAWRGLSHRPLSSEPPAAKASAVRAAFLNFFRDRHGHRLVP
SASVRPRGDPSLLFVNAGMNQFKPIFLGTVDPRSEMAGFRRVANSQKCVRAGGHHNDLED
VGRDLSHHTFFEMLGNWAFGGEYFKEEACNMAWELLTQVYGIPEERLWISYFDGDPKAGL
DPDLETRDIWLSLGVPASRVLSFGPQENFWEMGDTGPCGPCTEIHYDLAGGVGAPQLVEL
WNLVFMQHNREADGSLQPLPQRHVDTGMGLERLVAVLQGKHSTYDTDLFSPLLNAIQQGC
RAPPYLGRVGVADEGRTDTAYRVVADHIRTLSVCISDGIFPGMSGPPLVLRRILRRAVRF
SMEILKAPPGFLGSLVPVVVETLGDAYPELQRNSAQIANLVSEDEAAFLASLERGRRIID
RTLRTLGPSDMFPAEVAWSLSLCGDLGLPLDMVELMLEEKGVQLDSAGLERLAQEEAQHR
ARQAEPVQKQGLWLDVHALGELQRQGVPPTDDSPKYNYSLRPSGSYEFGTCEAQVLQLYT
EDGTAVASVGKGQRCGLLLDRTNFYAEQGGQASDRGYLVRAGQEDVLFPVARAQVCGGFI
LHEAVAPECLRLGDQVQLHVDEAWRLGCMAKHTATHLLNWALRQTLGPGTEQQGSHLNPE
QLRLDVTTQTPLTPEQLRAVENTVQEAVGQDEAVYMEEVPLALTAQVPGLRSLDEVYPDP
VRVVSVGVPVAHALDPASQAALQTSVELCCGTHLLRTGAVGDLVIIGDRQLSKGTTRLLA
VTGEQAQQARELGQSLAQEVKAATERLSLGSRDVAEALRLSKDIGRLIEAVETAVMPQWQ
RRELLATVKMLQRRANTAIRKLQMGQAAKKTQELLERHSKGPLIVDTVSAESLSVLVKVV
RQLCEQAPSTSVLLLSPQPMGKVLCACQVAQGAMPTFTAEAWALAVCSHMGGKAWGSRVV
AQGTGSTTDLEAALSIAQTYALSQL
NT seq 2958 nt   +upstreamnt  +downstreamnt
atggcagcgtcagtggcagctgcagcccggaggctgcggcgggccattcgaaggtcgccc
gcatggcggggcctcagccatcggccgctctcatcggagccccctgcagccaaggcctcg
gccgtgagggccgcctttctgaacttctttcgggaccgccatggccaccggctggtgccc
tccgcttccgtgcggccccgcggcgaccccagtttgctttttgtcaatgcgggcatgaac
cagttcaagccaatctttctgggcaccgtggatccacgaagcgagatggcaggcttccga
cgtgtggccaacagccagaaatgtgtgagagctggaggacaccataacgacctggaagat
gtgggtcgagacctttcccatcataccttctttgaaatgcttggcaattgggcctttggg
ggtgaatattttaaggaggaggcttgtaacatggcctgggaactgctgactcaggtctat
gggatccctgaggaaaggctctggatctcctactttgatggtgaccccaaggcagggctg
gacccagacctggagaccagggacatctggctgagcttaggggtgcctgctagccgtgtg
ctttcctttggaccacaagagaacttctgggagatgggggatactggcccttgtgggccc
tgtactgagatccactacgaccttgctggtggggtgggagccccccagctggtagagctt
tggaacctggtcttcatgcaacacaacagagaggcagatggaagcctgcagcccctgccc
cagcggcatgtggacacaggaatgggcctggaaaggctggtggctgtgctgcaaggcaaa
cactccacctatgacactgacctcttttccccgctgctcaacgccatacagcagggctgc
agggcacccccttacttgggccgagtaggggtggcagacgaggggcgcacagacacagcg
taccgcgtggtggctgaccacatccgcacactcagtgtctgcatctctgatggcatcttc
cctgggatgtcaggtcccccgctggttcttcgtcggatcctgcgtcgagctgtgcgtttc
tccatggagatcttaaaggcaccacctggcttcctaggcagcctggtacctgtagtggtg
gagacactgggagatgcttatccagaactgcaaaggaactcagcccagatcgccaacctg
gtgtcagaggacgaggcagccttcctggcctccctggagcggggtaggcggatcattgat
cggactctgaggaccctggggccttcagatatgttccctgctgaagtggcctggtccttg
tcactgtgtggagacctgggactccccttggacatggtagagctgatgctggaggagaaa
ggggtccagctagactccgctggactggagcggttggcccaagaggaggcccagcaccgg
gcacggcaggctgagccagttcagaagcagggattgtggcttgatgtccatgcgcttggg
gagctgcagcgccaaggagtgcccccaactgacgacagccccaagtacaactactccctg
cgacccagcggaagttatgagttcggcacctgtgaggcccaggtgttgcaactgtataca
gaggacgggacagcagtggcctccgtggggaaaggccagcgctgtggcctcctcttggac
aggaccaacttctacgcagaacaggggggccaggcttcagaccgtggctacctggtgcgg
gcagggcaagaggacgtgctgttcccagtagcccgggcccaggtctgtggaggtttcatc
ctgcatgaggcagtagcccctgagtgcctgcggttaggggaccaggtgcagctgcatgtg
gatgaggcctggcgtctaggctgcatggcgaagcatacggccacccacctgctgaactgg
gcactgaggcagaccctgggccctggcacagagcagcagggctcccatctcaatcctgag
cagctgcgcttggatgtgaccacccagaccccattgaccccagagcagctccgggcagtg
gagaacactgtgcaggaggccgtggggcaggatgaggctgtgtacatggaggaggtgccc
ctggcgctcactgcccaggtccctggcctgcgctctctggatgaggtttacccagaccct
gtgcgggtggtatcagtgggggtgcccgtggcccatgcattggacccagcctcccaagcc
gcactgcagacctctgtggagctatgctgtgggacgcacctgttacgtactggggctgta
ggggacctggttatcatcggggaccgccagctttccaagggcactacccgcctgctggcc
gtcactggggagcaggcccagcaggcccgagagctaggccagagcctggcccaggaagtg
aaagcggccactgagcggctgagtctggggagccgggatgtggcggaggcactgaggctg
tccaaggacataggacgactcattgaagctgtggaaactgctgtgatgccccagtggcag
cggcgggagctgctggccacagtgaagatgctgcagcggcgtgccaacactgccatccgt
aagctgcaaatgggacaggctgcaaagaaaactcaggagctgctggagcggcactcgaag
gggcctctgattgtggacacagtctctgctgagtctctctcagtgctggtgaaggtggta
cggcagctgtgtgagcaggcccccagcacgtctgtgctcctactcagcccccagcccatg
gggaaggtgctgtgtgcctgtcaggtggcccagggtgccatgcccaccttcacagcagag
gcctgggcactggcagtgtgcagccacatggggggcaaggcgtggggctcacgagtggtg
gcccaaggcaccggaagcactactgacctggaagctgccctcagtatagcccaaacctat
gccctcagccagctctga

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Ontology (4)   
   KEGG BRITE (4)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Chemical substance (6)   
   KEGG COMPOUND (6)   
Chemical reaction (2)   
   KEGG ENZYME (1)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (15)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   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 (25)   
   RefSeq(nuc) (5)   
   GenBank (10)   
   EMBL (10)   
3D Structure (3)   
   PDB (3)   
Protein domain (4)   
   Pfam (4)   
All databases (71)   

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