KEGG   Homo sapiens (human): 7407
Entry
7407              CDS       T01001                                 
Symbol
VARS1, G7A, NDMSCA, VARS, VARS2
Name
(RefSeq) valyl-tRNA synthetase 1
  KO
K01873  valyl-tRNA synthetase [EC:6.1.1.9]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00970  Aminoacyl-tRNA biosynthesis
Disease
H02709  Neurodevelopmental disorder with aminoacyl-tRNA synthetase defect
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   00970 Aminoacyl-tRNA biosynthesis
    7407 (VARS1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01007 Amino acid related enzymes [BR:hsa01007]
    7407 (VARS1)
  09182 Protein families: genetic information processing
   03016 Transfer RNA biogenesis [BR:hsa03016]
    7407 (VARS1)
Enzymes [BR:hsa01000]
 6. Ligases
  6.1  Forming carbon-oxygen bonds
   6.1.1  Ligases forming aminoacyl-tRNA and related compounds
    6.1.1.9  valine---tRNA ligase
     7407 (VARS1)
Amino acid related enzymes [BR:hsa01007]
 Aminoacyl-tRNA synthetase
  Class I (U)
   7407 (VARS1)
Transfer RNA biogenesis [BR:hsa03016]
 Eukaryotic type
  Aminoacyl-tRNA synthetases (AARSs)
   Other AARSs
    7407 (VARS1)
 Prokaryotic type
    7407 (VARS1)
SSDB
Motif
Pfam: tRNA-synt_1 Anticodon_1 GST_C tRNA-synt_1g tRNA-synt_1_2 GST_C_2 tRNA-synt_1e Jag_N
Other DBs
NCBI-GeneID: 7407
NCBI-ProteinID: NP_006286
OMIM: 192150
HGNC: 12651
Ensembl: ENSG00000204394
UniProt: P26640 A0A024RCN6
Position
6:complement(31777518..31795752)
AA seq 1264 aa
MSTLYVSPHPDAFPSLRALIAARYGEAGEGPGWGGAHPRICLQPPPTSRTPFPPPRLPAL
EQGPGGLWVWGATAVAQLLWPAGLGGPGGSRAAVLVQQWVSYADTELIPAACGATLPALG
LRSSAQDPQAVLGALGRALSPLEEWLRLHTYLAGEAPTLADLAAVTALLLPFRYVLDPPA
RRIWNNVTRWFVTCVRQPEFRAVLGEVVLYSGARPLSHQPGPEAPALPKTAAQLKKEAKK
REKLEKFQQKQKIQQQQPPPGEKKPKPEKREKRDPGVITYDLPTPPGEKKDVSGPMPDSY
SPRYVEAAWYPWWEQQGFFKPEYGRPNVSAANPRGVFMMCIPPPNVTGSLHLGHALTNAI
QDSLTRWHRMRGETTLWNPGCDHAGIATQVVVEKKLWREQGLSRHQLGREAFLQEVWKWK
EEKGDRIYHQLKKLGSSLDWDRACFTMDPKLSAAVTEAFVRLHEEGIIYRSTRLVNWSCT
LNSAISDIEVDKKELTGRTLLSVPGYKEKVEFGVLVSFAYKVQGSDSDEEVVVATTRIET
MLGDVAVAVHPKDTRYQHLKGKNVIHPFLSRSLPIVFDEFVDMDFGTGAVKITPAHDQND
YEVGQRHGLEAISIMDSRGALINVPPPFLGLPRFEARKAVLVALKERGLFRGIEDNPMVV
PLCNRSKDVVEPLLRPQWYVRCGEMAQAASAAVTRGDLRILPEAHQRTWHAWMDNIREWC
ISRQLWWGHRIPAYFVTVSDPAVPPGEDPDGRYWVSGRNEAEAREKAAKEFGVSPDKISL
QQDEDVLDTWFSSGLFPLSILGWPNQSEDLSVFYPGTLLETGHDILFFWVARMVMLGLKL
TGRLPFREVYLHAIVRDAHGRKMSKSLGNVIDPLDVIYGISLQGLHNQLLNSNLDPSEVE
KAKEGQKADFPAGIPECGTDALRFGLCAYMSQGRDINLDVNRILGYRHFCNKLWNATKFA
LRGLGKGFVPSPTSQPGGHESLVDRWIRSRLTEAVRLSNQGFQAYDFPAVTTAQYSFWLY
ELCDVYLECLKPVLNGVDQVAAECARQTLYTCLDVGLRLLSPFMPFVTEELFQRLPRRMP
QAPPSLCVTPYPEPSECSWKDPEAEAALELALSITRAVRSLRADYNLTRIRPDCFLEVAD
EATGALASAVSGYVQALASAGVVAVLALGAPAPQGCAVALASDRCSIHLQLQGLVDPARE
LGKLQAKRVEAQRQAQRLRERRAASGYPVKVPLEVQEADEAKLQQTEAELRKVDEAIALF
QKML
NT seq 3795 nt   +upstreamnt  +downstreamnt
atgtccaccctctacgtctcccctcacccagatgccttccccagcctccgagccctcata
gccgctcgctatggggaggctggggagggtcccggatggggaggagcccacccccgcatc
tgtctccagccacccccgactagcaggactccctttcccccaccccgcctgccggccctg
gagcaggggcccggtgggctctgggtgtggggggccacggctgtggcccagctgctgtgg
ccagcaggcctggggggcccagggggcagccgggcggctgtccttgtccaacagtgggtc
agttacgccgacacggagttaataccagctgcctgtggagcaacgctgccggccctggga
ctccgaagctcggcccaggacccccaggctgtgctgggggccctgggcagggccctgagc
cccttggaggagtggcttcggctgcacacctacttggccggggaggcccccactctggct
gacctggcggctgtcacagccttgctgctgcctttccgatacgtcctagacccacctgcc
cgccggatctggaataatgtgactcgctggtttgtcacgtgtgtccggcagccagaattc
cgagccgtgctaggagaagtggttctatactcaggagccaggcctctctctcatcagcca
ggccccgaggctcctgccctcccaaagacagctgctcagctcaagaaagaggcaaagaaa
cgggagaagctagagaaattccaacagaagcagaagatccaacagcagcagccacctcca
ggggagaagaaaccaaaaccagagaagagggagaaacgggatcctggggtcattacctat
gacctcccaaccccacccggggaaaagaaagatgtcagtggccccatgcccgactcctac
agccctcggtatgtggaggctgcctggtacccttggtgggagcagcagggcttcttcaag
ccagagtatgggcgtcctaatgtgtcagcagcaaatccccgaggtgtcttcatgatgtgc
atcccaccccccaatgtgacaggctccctgcacctgggccatgcactcaccaacgccatc
caggactccctgactcgatggcaccgcatgcgtggggagaccaccctgtggaaccctggc
tgtgaccatgcaggtattgccacccaggtggtggtggagaagaagctatggcgtgagcag
ggactgagccggcaccagctgggccgcgaggcctttctacaggaagtctggaagtggaag
gaggagaaaggtgaccggatttaccaccagttgaagaagcttggcagctccttggactgg
gatcgagcctgtttcaccatggaccctaaactctcagcagctgtgacagaggcctttgtc
cggcttcacgaggaaggcatcatctatcgcagtacccgccttgttaactggtcctgcacc
ctcaactccgccatctctgacattgaggtggataagaaggagctgacaggtcgcaccctg
ctctccgtgcctggctacaaggagaaggtggagttcggggtcctcgtgtcctttgcctat
aaggtccaaggctcagatagcgacgaggaggtggtggtggcaacaactcggatcgagaca
atgctgggagatgtggctgtagctgtgcaccccaaagataccagataccagcacctgaag
gggaagaacgtgatccacccattcctgtctcggagccttcccattgtcttcgatgaattt
gtggacatggactttggcacaggtgctgtgaagatcacccccgcacatgaccaaaatgac
tatgaagttgggcagcggcacgggctggaggccatcagcatcatggactcccggggggcc
ctcatcaatgtgcctccgcctttcctgggcctgcccaggtttgaggccaggaaagcggtg
ctggtggcgctgaaggagcggggactgttccgtggcattgaggacaaccccatggtggtg
ccactttgcaaccggtcgaaggacgtggtagagcctctgctgcggccgcagtggtacgtt
cgctgcggggagatggcccaggctgccagcgccgctgtgactcggggtgacctccgcatc
ctgcctgaggcccatcagcgcacatggcatgcctggatggacaacatccgggagtggtgc
atttccaggcagctgtggtggggccatcgcatcccagcctactttgtcactgtcagtgac
ccagcggtgccccctggggaggaccctgatgggcggtactgggtgagtggacgcaatgag
gcggaggcccgggagaaggcagccaaggagttcggagtgtcccctgacaagatcagtctc
cagcaagatgaggatgtattggatacctggttctcctctggcctcttccccttatccatt
ttgggctggcccaaccagtcagaagacctgagtgtgttctaccccgggacactgctggag
accggtcatgacatcctcttcttctgggtggcccggatggtcatgctgggcctgaagctc
acgggcaggctgccctttagagaggtctacctccatgccatcgtgcgagatgctcacggc
cggaagatgagcaagtctctaggcaatgtcatcgatcccctggacgtcatctatggaatc
tccctgcagggcctccacaaccagctgctgaacagcaacctggatcccagcgaggtggag
aaggccaaagaagggcagaaagctgacttcccagcggggattcctgaatgtggcaccgat
gctctccggtttggattatgtgcctacatgtcccagggtcgtgacatcaacctggatgtg
aaccggatactgggttaccgccacttctgcaacaagctctggaatgccaccaagtttgcc
cttcgtggccttgggaagggttttgtgccctcacccacctcccagcccggaggccatgag
agcctggtggaccgctggatccgcagccgcctgacagaggctgtgaggctcagcaatcaa
ggcttccaggcctacgacttcccggccgtcaccactgcccagtacagcttctggctctat
gagctctgtgatgtctacttggagtgcctgaaacctgtactgaatggggtggaccaggtg
gcagctgagtgtgcccgccagaccctgtacacttgcctggacgttggcctgcggctgctc
tcacccttcatgcccttcgtgacggaggagctgttccagaggctgccccggaggatgccg
caagctccccctagcctctgtgttaccccctacccggagccctcagagtgctcctggaag
gaccccgaggcagaagccgcccttgagctggcgctaagcatcacgcgagccgtgcgctcc
ctgcgggccgactacaacctcacccggatccggcctgactgtttcctggaagtggcggat
gaggccacgggcgccctggcatcggcggtgtcgggctacgtgcaggccctggccagcgca
ggtgtggtggctgttctggccctgggggctcccgccccccagggttgcgctgtggctctg
gcttctgatcgctgctccatccacctgcagcttcaggggctggtggaccctgcacgggag
ctgggcaagctgcaagccaagcgagttgaggcccagcggcaggcccagcgtctgcgggaa
cgccgtgctgcctcgggctatcctgtcaaggtgccgctcgaagtccaggaggcagatgaa
gccaagctccaacagacagaagcagagctcaggaaggtggatgaggccatcgccctattc
cagaagatgctgtga

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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 (30)   
   KEGG ORTHOLOGY (1)   
   RefGene (7)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (17)   
   OC (1)   
Protein sequence (18)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (15)   
DNA sequence (31)   
   RefSeq(nuc) (15)   
   GenBank (8)   
   EMBL (8)   
Protein domain (8)   
   Pfam (8)   
All databases (104)   

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