KEGG   Homo sapiens (human): 55695
Entry
55695             CDS       T01001                                 
Symbol
NSUN5, NOL1, NOL1R, NSUN5A, WBSCR20, WBSCR20A, p120, p120(NOL1)
Name
(RefSeq) NOP2/Sun RNA methyltransferase 5
  KO
K15264  25S rRNA (cytosine2278-C5)-methyltransferase [EC:2.1.1.311]
Organism
hsa  Homo sapiens (human)
Disease
H01439  Williams-Beuren syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03009 Ribosome biogenesis [BR:hsa03009]
    55695 (NSUN5)
Enzymes [BR:hsa01000]
 2. Transferases
  2.1  Transferring one-carbon groups
   2.1.1  Methyltransferases
    2.1.1.311  25S rRNA (cytosine2278-C5)-methyltransferase
     55695 (NSUN5)
Ribosome biogenesis [BR:hsa03009]
 Eukaryotic type
  Other ribosome biogenesis factors
   55695 (NSUN5)
SSDB
Motif
Pfam: NSUN5_fdxn-like NSUN5_N Methyltr_RsmB-F FtsJ Methyltransf_31 BrnA_antitoxin
Other DBs
NCBI-GeneID: 55695
NCBI-ProteinID: NP_060514
OMIM: 615732
HGNC: 16385
Ensembl: ENSG00000130305
UniProt: Q96P11
Structure
Position
7:complement(73302516..73308826)
AA seq 429 aa
MGLYAAAAGVLAGVESRQGSIKGLVYSSNFQNVKQLYALVCETQRYSAVLDAVIASAGLL
RAEKKLRPHLAKVLVYELLLGKGFRGGGGRWKALLGRHQARLKAELARLKVHRGVSRNED
LLEVGSRPGPASQLPRFVRVNTLKTCSDDVVDYFKRQGFSYQGRASSLDDLRALKGKHFL
LDPLMPELLVFPAQTDLHEHPLYRAGHLILQDRASCLPAMLLDPPPGSHVIDACAAPGNK
TSHLAALLKNQGKIFAFDLDAKRLASMATLLARAGVSCCELAEEDFLAVSPSDPRYHEVH
YILLDPSCSGSGMPSRQLEEPGAGTPSPVRLHALAGFQQRALCHALTFPSLQRLVYSTCS
LCQEENEDVVRDALQQNPGAFRLAPALPAWPHRGLSTFPGAEHCLRASPETTLSSGFFVA
VIERVEVPR
NT seq 1290 nt   +upstreamnt  +downstreamnt
atggggctgtatgctgcagctgcaggcgtgttggccggcgtggagagccgccagggctct
atcaaggggttggtgtactccagcaacttccagaacgtgaagcagctgtacgcgctggtg
tgcgaaacgcagcgctactccgccgtgctggatgctgtgatcgccagcgccggcctcctc
cgtgcggagaagaagctgcggccgcacctggccaaggtgctagtgtatgagttgttgttg
ggaaagggctttcgagggggtgggggccgatggaaggctctgttgggccggcaccaggcg
aggctcaaggctgagttggctcggctcaaggttcatcggggtgtgagccggaatgaggac
ctgttggaagtgggatccaggcctggtccagcctcccagctgcctcgatttgtgcgtgtg
aacactctcaagacctgctccgatgatgtagttgattatttcaagagacaaggtttctcc
tatcagggtcgggcttccagcctcgatgacttacgagccctcaaggggaagcattttctc
ctggaccccttgatgccggagctgctggtgtttcccgcccagacagatctgcatgaacac
ccactgtaccgggccggacacctcattctgcaggacagggccagctgtctcccagccatg
ctgctggaccccccgccaggctcccatgtcatcgatgcctgtgccgccccaggcaataag
accagtcacttggctgctcttctgaagaaccaagggaagatctttgcctttgacctggat
gccaagcggctggcatccatggccacgctgctggcccgggctggcgtctcttgctgtgaa
ctggctgaggaggacttcctggcggtctccccctcggatccacgctaccatgaggtccac
tacatcctgctggatccttcctgcagtggctcgggtatgccgagcagacagctggaggag
cccggggcaggcacacctagcccggtgcgtctgcatgccctggcagggttccagcagcga
gccctgtgccacgcactcactttcccttccctgcagcggctcgtctactccacgtgctcc
ctctgccaggaggagaatgaagacgtggtgcgagatgcgctgcagcagaacccgggcgcc
ttcaggctagctcccgccctgcctgcctggccccaccgaggcctgagcacgttcccgggt
gccgagcactgcctccgggcctcccctgagaccacactcagcagtggcttcttcgttgct
gtaattgaacgggtcgaggtgccaaggtga

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