KEGG   Homo sapiens (human): 2617Help
Entry
2617              CDS       T01001                                 

Gene name
GARS, CMT2D, DSMAV, GlyRS, HMN5, SMAD1
Definition
(RefSeq) glycyl-tRNA synthetase
  KO
K01880  glycyl-tRNA synthetase [EC:6.1.1.14]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00970  Aminoacyl-tRNA biosynthesis
Module
hsa_M00359  Aminoacyl-tRNA biosynthesis, eukaryotes
Disease
H00264  Charcot-Marie-Tooth disease
H00856  Distal hereditary motor neuropathies
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   00970 Aminoacyl-tRNA biosynthesis
    2617 (GARS)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01007 Amino acid related enzymes [BR:hsa01007]
    2617 (GARS)
  09182 Protein families: genetic information processing
   03016 Transfer RNA biogenesis [BR:hsa03016]
    2617 (GARS)
   03029 Mitochondrial biogenesis [BR:hsa03029]
    2617 (GARS)
Enzymes [BR:hsa01000]
 6. Ligases
  6.1  Forming carbon-oxygen bonds
   6.1.1  Ligases forming aminoacyl-tRNA and related compounds
    6.1.1.14  glycine---tRNA ligase
     2617 (GARS)
Amino acid related enzymes [BR:hsa01007]
 Aminoacyl-tRNA synthetase
  Class II (G/C)
   2617 (GARS)
Transfer RNA biogenesis [BR:hsa03016]
 Eukaryotic Type
  Aminoacyl-tRNA synthetases (AARSs)
   Other AARSs
    2617 (GARS)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial DNA transcription, translation, and replication factors
  Mitochondrial transcription and translation factors
   Other mitochondrial DNA transcription and translation factors
    2617 (GARS)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: HGTP_anticodon WHEP-TRS tRNA-synt_2b
Motif
Other DBs
NCBI-GeneID: 2617
NCBI-ProteinID: NP_002038
OMIM: 600287
HGNC: 4162
Ensembl: ENSG00000106105
Vega: OTTHUMG00000152769
Pharos: P41250(Tbio)
UniProt: P41250
Structure
PDB: 

Position
7p14.3
AA seq 739 aa AA seqDB search
MPSPRPVLLRGARAALLLLLPPRLLARPSLLLRRSLSAASCPPISLPAAASRSSMDGAGA
EEVLAPLRLAVRQQGDLVRKLKEDKAPQVDVDKAVAELKARKRVLEAKELALQPKDDIVD
RAKMEDTLKRRFFYDQAFAIYGGVSGLYDFGPVGCALKNNIIQTWRQHFIQEEQILEIDC
TMLTPEPVLKTSGHVDKFADFMVKDVKNGECFRADHLLKAHLQKLMSDKKCSVEKKSEME
SVLAQLDNYGQQELADLFVNYNVKSPITGNDLSPPVSFNLMFKTFIGPGGNMPGYLRPET
AQGIFLNFKRLLEFNQGKLPFAAAQIGNSFRNEISPRSGLIRVREFTMAEIEHFVDPSEK
DHPKFQNVADLHLYLYSAKAQVSGQSARKMRLGDAVEQGVINNTVLGYFIGRIYLYLTKV
GISPDKLRFRQHMENEMAHYACDCWDAESKTSYGWIEIVGCADRSCYDLSCHARATKVPL
VAEKPLKEPKTVNVVQFEPSKGAIGKAYKKDAKLVMEYLAICDECYITEMEMLLNEKGEF
TIETEGKTFQLTKDMINVKRFQKTLYVEEVVPNVIEPSFGLGRIMYTVFEHTFHVREGDE
QRTFFSFPAVVAPFKCSVLPLSQNQEFMPFVKELSEALTRHGVSHKVDDSSGSIGRRYAR
TDEIGVAFGVTIDFDTVNKTPHTATLRDRDSMRQIRAEISELPSIVQDLANGNITWADVE
ARYPLFEGQETGKKETIEE
NT seq 2220 nt NT seq  +upstreamnt  +downstreamnt
atgccctctccgcgtccagtgctgcttagaggtgctcgcgccgctctgctgctgctgctg
ccgccccggctcttagcccgaccctcgctcctgctccgccggtccctcagcgcggcctcc
tgccccccgatctccttgcccgccgccgcctcccggagcagcatggacggcgcgggggct
gaggaggtgctggcacctctgaggctagcagtgcgccagcagggagatcttgtgcgaaaa
ctcaaagaagataaagcaccccaagtagacgtagacaaagcagtggctgagctcaaagcc
cgcaagagggttctggaagcaaaggagctggcgttacagcccaaagatgatattgtagac
cgagcaaaaatggaagataccctgaagaggaggtttttctatgatcaagcttttgctatt
tatggaggtgttagtggtctgtatgactttgggccagttggctgtgctttgaagaacaat
attattcagacctggaggcagcactttatccaagaggaacagatcctggagatcgattgc
accatgctcacccctgagccagttttaaagacctctggccatgtagacaaatttgctgac
ttcatggtgaaagacgtaaaaaatggagaatgttttcgtgctgaccatctattaaaagct
catttacagaaattgatgtctgataagaagtgttctgtcgaaaagaaatcagaaatggaa
agtgttttggcccagcttgataactatggacagcaagaacttgcggatctttttgtgaac
tataatgtaaaatctcccattactggaaatgatctatcccctccagtgtcttttaactta
atgttcaagactttcattgggcctggaggaaacatgcctgggtacttgagaccagaaact
gcacaggggattttcttgaatttcaaacgacttttggagttcaaccaaggaaagttgcct
tttgctgctgcccagattggaaattcttttagaaatgagatctcccctcgatctggactg
atcagagtcagagaattcacaatggcagaaattgagcactttgtagatcccagtgagaaa
gaccaccccaagttccagaatgtggcagaccttcacctttatttgtattcagcaaaagcc
caggtcagcggacagtccgctcggaaaatgcgcctgggagatgctgttgaacagggtgtg
attaataacacagtattaggctatttcattggccgcatctacctctacctcacgaaggtt
ggaatatctccagataaactccgcttccggcagcacatggagaatgagatggcccattat
gcctgtgactgttgggatgcagaatccaaaacatcctacggttggattgagattgttgga
tgtgctgatcgttcctgttatgacctctcctgtcatgcacgagccaccaaagtcccactt
gtagctgagaaacctctgaaagaacccaaaacagtcaatgttgttcagtttgaacccagt
aagggagcaattggtaaggcatataagaaggatgcaaaactggtgatggagtatcttgcc
atttgtgatgagtgctacattacagaaatggagatgctgctgaatgagaaaggggaattc
acaattgaaactgaagggaaaacatttcagttaacaaaagacatgatcaatgtgaagaga
ttccagaaaacactatatgtggaagaagttgttccgaatgtaattgaaccttccttcggc
ctgggtaggatcatgtatacggtatttgaacatacattccatgtacgagaaggagatgaa
cagagaacattcttcagtttccctgctgtagttgctccattcaaatgttccgtcctccca
ctgagccaaaaccaggagttcatgccatttgtcaaggaattatcggaagccctgaccagg
catggagtatctcacaaagtagacgattcctctgggtcaatcggaaggcgctatgccagg
actgatgagattggcgtggcttttggtgtcaccattgactttgacacagtgaacaagacc
ccccacactgcaactctgagggaccgtgactcaatgcggcagataagagcagagatctct
gagctgcccagcatagtccaagacctagccaatggcaacatcacatgggctgatgtggag
gccaggtatcctctgtttgaagggcaagagactggtaaaaaagagacaatcgaggaatga

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