KEGG   Homo sapiens (human): 10436
Entry
10436             CDS       T01001                                 
Symbol
EMG1, C2F, Grcc2f, NEP1
Name
(RefSeq) EMG1 N1-specific pseudouridine methyltransferase
  KO
K14568  rRNA small subunit pseudouridine methyltransferase Nep1 [EC:2.1.1.260]
Organism
hsa  Homo sapiens (human)
Pathway
hsa03008  Ribosome biogenesis in eukaryotes
Disease
H00616  Bowen-Conradi syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03008 Ribosome biogenesis in eukaryotes
    10436 (EMG1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03009 Ribosome biogenesis [BR:hsa03009]
    10436 (EMG1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.1  Transferring one-carbon groups
   2.1.1  Methyltransferases
    2.1.1.260  rRNA small subunit pseudouridine methyltransferase Nep1
     10436 (EMG1)
Ribosome biogenesis [BR:hsa03009]
 Eukaryotic type
  90S particles
   Other 90S particles
    10436 (EMG1)
SSDB
Motif
Pfam: EMG1
Other DBs
NCBI-GeneID: 10436
NCBI-ProteinID: NP_006322
OMIM: 611531
HGNC: 16912
Ensembl: ENSG00000126749
UniProt: Q92979
Structure
LinkDB
Position
12:6970913..6997428
AA seq 244 aa
MAAPSDGFKPRERSGGEQAQDWDALPPKRPRLGAGNKIGGRRLIVVLEGASLETVKVGKT
YELLNCDKHKSILLKNGRDPGEARPDITHQSLLMLMDSPLNRAGLLQVYIHTQKNVLIEV
NPQTRIPRTFDRFCGLMVQLLHKLSVRAADGPQKLLKVIKNPVSDHFPVGCMKVGTSFSI
PVVSDVRELVPSSDPIVFVVGAFAHGKVSVEYTEKMVSISNYPLSAALTCAKLTTAFEEV
WGVI
NT seq 735 nt   +upstreamnt  +downstreamnt
atggccgcgcccagtgatggattcaagcctcgtgaacgaagcggtggggagcaggcacag
gactgggatgctctgccacccaagcggccccgactaggggcaggaaacaagatcggaggc
cgtaggcttattgtggtgctggaaggggccagtctggagacagtcaaggtagggaagaca
tatgagctactcaactgtgacaagcacaagtctatattgttgaagaatggacgggaccct
ggggaagcgcggccagatatcacccaccagagtttgctgatgctgatggatagtcccctg
aaccgagctggcttgctacaggtttatatccatacacagaagaatgttctgattgaagtg
aatccccagacccgaattcccagaacctttgaccgcttttgtggcctcatggttcaactt
ttacacaagctcagtgttcgagcagctgatggcccccagaagcttttgaaggtaattaag
aatccagtatcagatcactttccagttggatgtatgaaagttggcacttctttttccatc
ccggttgtcagtgatgtgcgtgagctggtgcccagcagtgatcctattgtttttgtggta
ggggcctttgcccatggcaaggtcagtgtggagtatacagagaagatggtgtccatcagt
aactaccccctttctgctgccctcacctgtgcaaaacttaccacagcctttgaggaagta
tggggggtcatttga

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