KEGG   Homo sapiens (human): 124454
Entry
124454            CDS       T01001                                 

Symbol
EARS2, COXPD12, MSE1, gluRS, mtGlnRS
Name
(RefSeq) glutamyl-tRNA synthetase 2, mitochondrial
  KO
K01885  glutamyl-tRNA synthetase [EC:6.1.1.17]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00860  Porphyrin and chlorophyll metabolism
hsa00970  Aminoacyl-tRNA biosynthesis
hsa01100  Metabolic pathways
hsa01240  Biosynthesis of cofactors
Disease
H00891  Combined oxidative phosphorylation deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00860 Porphyrin and chlorophyll metabolism
    124454 (EARS2)
 09120 Genetic Information Processing
  09122 Translation
   00970 Aminoacyl-tRNA biosynthesis
    124454 (EARS2)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01007 Amino acid related enzymes [BR:hsa01007]
    124454 (EARS2)
  09182 Protein families: genetic information processing
   03016 Transfer RNA biogenesis [BR:hsa03016]
    124454 (EARS2)
  09183 Protein families: signaling and cellular processes
   02048 Prokaryotic defense system [BR:hsa02048]
    124454 (EARS2)
Enzymes [BR:hsa01000]
 6. Ligases
  6.1  Forming carbon-oxygen bonds
   6.1.1  Ligases forming aminoacyl-tRNA and related compounds
    6.1.1.17  glutamate---tRNA ligase
     124454 (EARS2)
Amino acid related enzymes [BR:hsa01007]
 Aminoacyl-tRNA synthetase
  Class I (A)
   124454 (EARS2)
Transfer RNA biogenesis [BR:hsa03016]
 Eukaryotic type
  Aminoacyl-tRNA synthetases (AARSs)
   Multi-aminoacyl-tRNA synthetase complex (MSC)
    124454 (EARS2)
 Prokaryotic type
   Other AARSs
    124454 (EARS2)
Prokaryotic defense system [BR:hsa02048]
 Toxin-antitoxin system (TA system)
  Type II TA system
   Type II TA system related factors
    124454 (EARS2)
SSDB
Motif
Pfam: tRNA-synt_1c TetR_C_7
Other DBs
NCBI-GeneID: 124454
NCBI-ProteinID: NP_001077083
OMIM: 612799
HGNC: 29419
Ensembl: ENSG00000103356
Vega: OTTHUMG00000177018
Pharos: Q5JPH6(Tbio)
UniProt: Q5JPH6
LinkDB
Position
16p12.2
AA seq 523 aa
MAALLRRLLQRERPSAASGRPVGRREANLGTDAGVAVRVRFAPSPTGFLHLGGLRTALYN
YIFAKKYQGSFILRLEDTDQTRVVPGAAENIEDMLEWAGIPPDESPRRGGPAGPYQQSQR
LELYAQATEALLKTGAAYPCFCSPQRLELLKKEALRNHQTPRYDNRCRNMSQEQVAQKLA
KDPKPAIRFRLEQVVPAFQDLVYGWNRHEVASVEGDPVIMKSDGFPTYHLACVVDDHHMG
ISHVLRGSEWLVSTAKHLLLYQALGWQPPHFAHLPLLLNRDGSKLSKRQGDVFLEHFAAD
GFLPDSLLDIITNCGSGFAENQMGRTLPELITQFNLTQVTCHSALLDLEKLPEFNRLHLQ
RLVSNESQRRQLVGKLQVLVEEAFGCQLQNRDVLNPVYVERILLLRQGHICRLQDLVSPV
YSYLWTRPAVGRAQLDAISEKVDVIAKRVLGLLERSSMSLTQDMLNGELKKLSEGLEGTK
YSNVMKLLRMALSGQQQGPPVAEMMLALGPKEVRERIQKVVSS
NT seq 1572 nt   +upstreamnt  +downstreamnt
atggcggcgctcctgaggagactgctgcagcgcgagaggccttcggcggcctctggccgc
cccgtaggacggcgcgaggccaacctgggcactgatgccggggttgcggtgcgagtgcgg
ttcgctcccagccccacaggcttcttgcacctgggtggcctccgcactgccttgtacaac
tacatctttgctaagaagtaccaggggagcttcatcctgaggctagaggacacagatcag
actcgcgttgtgcctggggcagcggagaatattgaggacatgctggagtgggcaggcatc
ccgcctgatgagagcccccgccggggcggtcctgctgggccctaccagcaatctcagcgg
ttggagctgtatgcccaggccacagaagcgctgctgaagaccggagctgcttacccctgt
ttctgctcaccccagcggctggagctcctgaagaaggaggccttgcggaaccaccagacg
ccccggtatgacaatcggtgcaggaacatgagccaggagcaggtggcccagaagctggcc
aaggaccccaagcctgcgatccgcttccgcctggagcaggtggtgccagccttccaggac
ctggtctatggctggaataggcatgaagtggccagcgtggagggagacccagtcatcatg
aagagcgacggcttccccacataccacctggcctgcgtggtggacgaccaccacatgggc
atcagccacgtgctgcgaggctctgagtggctcgtctccactgccaagcacctgctcctc
taccaggccctgggctggcagccaccccacttcgcccacctgcccctgctcctcaacagg
gatggcagcaagctctccaagaggcaaggggacgttttcctggagcactttgctgctgat
ggcttcctgcccgattccttgttggacatcatcaccaactgtggctcaggttttgcagag
aaccaaatgggcaggaccctgccggagctgatcacacagttcaacctgacacaggtcacc
tgtcactcagccctgctggacctggagaagctcccagaattcaacagactgcacctccag
cggctggtgagcaatgagagccagaggcgccagctggtggggaagctgcaggtccttgtg
gaggaggcctttggttgccagctgcaaaacagggatgtcctcaacccagtctacgtggag
aggatcctcctgctgagacagggtcacatttgccgcctgcaggacttggtgtccccagta
tactcttacctgtggactcgccctgcagtaggtcgagcacagctggacgccatctcggag
aaggtggatgtgattgccaagcgtgtgctggggcttctagaaagatctagtatgagctta
actcaggatatgctgaatggagaactgaagaagctatcagaaggtctggaaggcaccaag
tacagtaatgtgatgaaactccttcggatggccctcagtggacagcagcaaggacctcct
gtagctgagatgatgttggccttgggaccaaaggaagtacgggaacggatccagaaggtg
gtttccagctag

KEGG   Homo sapiens (human): 2058
Entry
2058              CDS       T01001                                 

Symbol
EPRS1, EARS, EPRS, GLUPRORS, HLD15, PARS, PIG32, QARS, QPRS
Name
(RefSeq) glutamyl-prolyl-tRNA synthetase 1
  KO
K14163  bifunctional glutamyl/prolyl-tRNA synthetase [EC:6.1.1.17 6.1.1.15]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00860  Porphyrin and chlorophyll metabolism
hsa00970  Aminoacyl-tRNA biosynthesis
hsa01100  Metabolic pathways
hsa01240  Biosynthesis of cofactors
Disease
H00679  Hypomyelinating leukodystrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00860 Porphyrin and chlorophyll metabolism
    2058 (EPRS1)
 09120 Genetic Information Processing
  09122 Translation
   00970 Aminoacyl-tRNA biosynthesis
    2058 (EPRS1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01007 Amino acid related enzymes [BR:hsa01007]
    2058 (EPRS1)
  09182 Protein families: genetic information processing
   03016 Transfer RNA biogenesis [BR:hsa03016]
    2058 (EPRS1)
Enzymes [BR:hsa01000]
 6. Ligases
  6.1  Forming carbon-oxygen bonds
   6.1.1  Ligases forming aminoacyl-tRNA and related compounds
    6.1.1.15  proline---tRNA ligase
     2058 (EPRS1)
    6.1.1.17  glutamate---tRNA ligase
     2058 (EPRS1)
Amino acid related enzymes [BR:hsa01007]
 Aminoacyl-tRNA synthetase
  Class I (A)
   2058 (EPRS1)
Transfer RNA biogenesis [BR:hsa03016]
 Eukaryotic type
  Aminoacyl-tRNA synthetases (AARSs)
   Multi-aminoacyl-tRNA synthetase complex (MSC)
    2058 (EPRS1)
SSDB
Motif
Pfam: tRNA-synt_1c WHEP-TRS tRNA-synt_1c_C ProRS-C_1 tRNA-synt_2b HGTP_anticodon GST_C GST_C_3 tRNA-synt_1e
Other DBs
NCBI-GeneID: 2058
NCBI-ProteinID: NP_004437
OMIM: 138295
HGNC: 3418
Ensembl: ENSG00000136628
Vega: OTTHUMG00000037433
Pharos: P07814(Tchem)
UniProt: P07814
LinkDB
Structure
PDB: 

Position
1q41
AA seq 1512 aa
MATLSLTVNSGDPPLGALLAVEHVKDDVSISVEEGKENILHVSENVIFTDVNSILRYLAR
VATTAGLYGSNLMEHTEIDHWLEFSATKLSSCDSFTSTINELNHCLSLRTYLVGNSLSLA
DLCVWATLKGNAAWQEQLKQKKAPVHVKRWFGFLEAQQAFQSVGTKWDVSTTKARVAPEK
KQDVGKFVELPGAEMGKVTVRFPPEASGYLHIGHAKAALLNQHYQVNFKGKLIMRFDDTN
PEKEKEDFEKVILEDVAMLHIKPDQFTYTSDHFETIMKYAEKLIQEGKAYVDDTPAEQMK
AEREQRIDSKHRKNPIEKNLQMWEEMKKGSQFGQSCCLRAKIDMSSNNGCMRDPTLYRCK
IQPHPRTGNKYNVYPTYDFACPIVDSIEGVTHALRTTEYHDRDEQFYWIIEALGIRKPYI
WEYSRLNLNNTVLSKRKLTWFVNEGLVDGWDDPRFPTVRGVLRRGMTVEGLKQFIAAQGS
SRSVVNMEWDKIWAFNKKVIDPVAPRYVALLKKEVIPVNVPEAQEEMKEVAKHPKNPEVG
LKPVWYSPKVFIEGADAETFSEGEMVTFINWGNLNITKIHKNADGKIISLDAKLNLENKD
YKKTTKVTWLAETTHALPIPVICVTYEHLITKPVLGKDEDFKQYVNKNSKHEELMLGDPC
LKDLKKGDIIQLQRRGFFICDQPYEPVSPYSCKEAPCVLIYIPDGHTKEMPTSGSKEKTK
VEATKNETSAPFKERPTPSLNNNCTTSEDSLVLYNRVAVQGDVVRELKAKKAPKEDVDAA
VKQLLSLKAEYKEKTGQEYKPGNPPAEIGQNISSNSSASILESKSLYDEVAAQGEVVRKL
KAEKSPKAKINEAVECLLSLKAQYKEKTGKEYIPGQPPLSQSSDSSPTRNSEPAGLETPE
AKVLFDKVASQGEVVRKLKTEKAPKDQVDIAVQELLQLKAQYKSLIGVEYKPVSATGAED
KDKKKKEKENKSEKQNKPQKQNDGQRKDPSKNQGGGLSSSGAGEGQGPKKQTRLGLEAKK
EENLADWYSQVITKSEMIEYHDISGCYILRPWAYAIWEAIKDFFDAEIKKLGVENCYFPM
FVSQSALEKEKTHVADFAPEVAWVTRSGKTELAEPIAIRPTSETVMYPAYAKWVQSHRDL
PIKLNQWCNVVRWEFKHPQPFLRTREFLWQEGHSAFATMEEAAEEVLQILDLYAQVYEEL
LAIPVVKGRKTEKEKFAGGDYTTTIEAFISASGRAIQGGTSHHLGQNFSKMFEIVFEDPK
IPGEKQFAYQNSWGLTTRTIGVMTMVHGDNMGLVLPPRVACVQVVIIPCGITNALSEEDK
EALIAKCNDYRRRLLSVNIRVRADLRDNYSPGWKFNHWELKGVPIRLEVGPRDMKSCQFV
AVRRDTGEKLTVAENEAETKLQAILEDIQVTLFTRASEDLKTHMVVANTMEDFQKILDSG
KIVQIPFCGEIDCEDWIKKTTARDQDLEPGAPSMGAKSLCIPFKPLCELQPGAKCVCGKN
PAKYYTLFGRSY
NT seq 4539 nt   +upstreamnt  +downstreamnt
atggcgacgctctctctgaccgtgaattcaggagaccctccgctaggagctttgctggca
gtagaacacgtgaaagacgatgtcagcatttccgttgaagaagggaaagagaatattctt
catgtttctgaaaatgtgatattcacagatgtgaattctatacttcgctacttggctaga
gttgcaactacagctgggttatatggctctaatctgatggaacatactgagattgatcac
tggttggagttcagtgctacaaaattatcttcatgtgattcctttacttctacaattaat
gaactcaatcattgcctgtctctgagaacatacttagttggaaactccttgagtttagca
gatttatgtgtttgggccaccctaaaaggaaatgctgcctggcaagaacagttgaaacag
aagaaagctccagttcatgtaaaacgttggtttggctttcttgaagcccagcaggccttc
cagtcagtaggtaccaagtgggatgtttcaacaaccaaagctcgagtggcacctgagaaa
aagcaagatgttgggaaatttgttgagcttccaggtgcggagatgggaaaggttaccgtc
agatttcctccagaggccagtggttacttacacattgggcatgcaaaagctgctcttctg
aaccagcactaccaggttaactttaaagggaaactgatcatgagatttgatgacacaaat
cctgaaaaagaaaaggaagattttgagaaggttatcttggaagatgttgcaatgttgcat
atcaaaccagatcaatttacttatacttcggatcattttgaaactataatgaagtatgca
gagaagctaattcaagaagggaaggcttatgtggatgatactcctgctgaacagatgaaa
gcagaacgtgagcagaggatagactctaaacatagaaaaaaccctattgagaagaatcta
caaatgtgggaagaaatgaaaaaagggagccagtttggtcagtcctgttgtttgcgagca
aaaattgacatgagtagtaacaatggatgcatgagagatccaaccctttatcgctgcaaa
attcaaccacatccaagaactggaaataaatacaatgtttatccaacatatgattttgcc
tgccccatagttgacagcatcgaaggtgttacacatgccctgagaacaacagaataccat
gacagagatgagcagttttactggattattgaagctttaggcataagaaaaccatatatt
tgggaatatagtcggctaaatctcaacaacacagtgctatccaaaagaaaactcacatgg
tttgtcaatgaaggactagtagatggatgggatgacccaagatttcctacggttcgtggt
gtactgagaagagggatgacagttgaaggactgaaacagtttattgctgctcagggctcc
tcacgttcagtcgtgaacatggagtgggacaaaatctgggcgtttaacaaaaaggttatt
gacccagtggctccacgatatgttgcattactgaagaaagaagtgatcccagtgaatgta
cctgaagctcaggaggagatgaaagaagtagccaaacacccaaagaatcctgaggttggc
ttgaagcctgtgtggtatagtcccaaagttttcattgaaggtgctgatgcagagactttt
tcggagggtgagatggttacatttataaattggggcaacctcaacattacaaaaatacac
aaaaatgcagatggaaaaatcatatctcttgatgcaaagttgaatttggaaaacaaagac
tacaagaaaaccactaaggtcacttggcttgcagagactacacatgctcttcctattcca
gtaatctgtgtcacttatgagcacttgatcacaaagccagtgctaggaaaagacgaggac
tttaagcagtatgtcaacaagaacagtaagcatgaagagctaatgctaggggatccctgc
cttaaggatttgaaaaaaggagatattatacaactccagagaagaggattcttcatatgt
gatcaaccttatgaacctgttagcccatatagttgcaaggaagccccgtgtgttttgata
tacattcctgatgggcacacaaaggaaatgccaacatcagggtcaaaggaaaagaccaaa
gtagaagccacaaaaaatgagacctctgctccttttaaggaaagaccaacaccttctctg
aataataattgtactacatctgaggattccttggtcctttacaatagagtggctgttcaa
ggagatgtggttcgtgaattaaaagccaagaaagcaccaaaggaagatgtagatgcagct
gtaaaacagcttttgtctttgaaagctgaatataaggagaaaactggccaggaatataaa
cctggaaaccctcctgctgaaataggacagaatatttcttctaattcctcagcaagtatt
ctggaaagtaaatctctgtatgatgaagttgctgcacaaggggaggtggttcgtaagcta
aaagctgaaaaatcccctaaggctaaaataaatgaagctgtagaatgcttactgtccctg
aaggctcagtataaagaaaaaactgggaaggagtacatacctggtcagcccccattatct
caaagttcggattcaagcccaaccagaaattctgaacctgctggtttagaaacaccagaa
gcgaaagtactttttgacaaagtagcttctcaaggggaagtagttcggaaacttaaaact
gaaaaagcccctaaggatcaagtagatatagctgttcaagaactccttcagctaaaggca
cagtacaagtctttgataggagtagagtataagcctgtgtcggccactggagctgaggac
aaagataagaagaagaaagaaaaagaaaataaatctgaaaagcagaataagcctcagaaa
caaaatgatggccaaaggaaagacccttctaaaaaccaaggaggtgggctctcatcaagt
ggagcaggagaagggcaggggcctaagaaacagaccaggttgggtcttgaggcaaaaaaa
gaagaaaatcttgctgattggtattctcaggtcatcacaaagtcagaaatgattgaatac
catgacataagtggctgttatattcttcgtccctgggcctatgccatttgggaagccatc
aaggacttttttgatgctgagatcaagaaacttggtgttgaaaactgctacttccccatg
tttgtgtctcaaagtgcattagagaaagagaagactcatgttgctgactttgccccagag
gttgcttgggttacaagatctggcaaaaccgagctggcagaaccaattgccattcgtcct
actagtgaaacagtaatgtatcctgcatatgcaaaatgggtacagtcacacagagacctg
cccatcaagctcaatcagtggtgcaatgtggtgcgttgggaattcaagcatcctcagcct
ttcctacgtactcgtgaatttctttggcaggaagggcacagtgcttttgctaccatggaa
gaggcagcggaagaggtcttgcagatacttgacttatatgctcaggtatatgaagaactc
ctggcaattcctgttgttaaaggaagaaagacggaaaaggaaaaatttgcaggaggagac
tatacaactacaatagaagcatttatatctgctagtggaagagctatccagggaggaaca
tcacatcatttagggcagaatttttccaaaatgtttgaaatcgtttttgaagatccaaag
ataccaggagagaagcaatttgcctatcaaaactcctggggcctgacaactcgaactatt
ggtgttatgaccatggttcatggggacaacatgggtttagtattaccaccccgtgtagca
tgtgttcaggtggtgattattccttgtggcattaccaatgcactttctgaagaagacaaa
gaagcgctgattgcaaaatgcaatgattatcgaaggcgattactcagtgttaacatccgc
gttagagctgatttacgagataattattctccaggttggaaattcaatcactgggagctc
aagggagttcccattagacttgaagttgggccacgtgatatgaagagctgtcagtttgta
gccgtcagacgagatactggagaaaagctgacagttgctgaaaatgaggcagagactaaa
cttcaagctattttggaagacatccaggtcacccttttcacaagggcttctgaagacctt
aagactcatatggttgtggctaatacaatggaagactttcagaagatactagattctgga
aagattgttcagattccattctgtggggaaattgactgtgaggactggatcaaaaagacc
actgccagggatcaagatcttgaacctggtgctccatccatgggagctaaaagcctttgc
atccccttcaaaccactctgtgaactgcagcctggagccaaatgtgtctgtggcaagaac
cctgccaagtactacaccttatttggtcgcagctactga

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