KEGG   Homo sapiens (human): 10436Help
Entry
10436             CDS       T01001                                 

Gene name
EMG1, C2F, Grcc2f, NEP1
Definition
(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
Ribosome biogenesis in eukaryotes
Disease
H00616  
Bowen-Conradi syndrome (BCS)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Genetic Information Processing
  Translation
   03008 Ribosome biogenesis in eukaryotes
    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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
Q92979(Tdark)
UniProt: 
Structure
PDB: 

Jmol
Position
12p13.31
AA seq 244 aa AA seqDB search
MAAPSDGFKPRERSGGEQAQDWDALPPKRPRLGAGNKIGGRRLIVVLEGASLETVKVGKT
YELLNCDKHKSILLKNGRDPGEARPDITHQSLLMLMDSPLNRAGLLQVYIHTQKNVLIEV
NPQTRIPRTFDRFCGLMVQLLHKLSVRAADGPQKLLKVIKNPVSDHFPVGCMKVGTSFSI
PVVSDVRELVPSSDPIVFVVGAFAHGKVSVEYTEKMVSISNYPLSAALTCAKLTTAFEEV
WGVI
NT seq 735 nt NT seq  +upstreamnt  +downstreamnt
atggccgcgcccagtgatggattcaagcctcgtgaacgaagcggtggggagcaggcacag
gactgggatgctctgccacccaagcggccccgactaggggcaggaaacaagatcggaggc
cgtaggcttattgtggtgctggaaggggccagtctggagacagtcaaggtagggaagaca
tatgagctactcaactgtgacaagcacaagtctatattgttgaagaatggacgggaccct
ggggaagcgcggccagatatcacccaccagagtttgctgatgctgatggatagtcccctg
aaccgagctggcttgctacaggtttatatccatacacagaagaatgttctgattgaagtg
aatccccagacccgaattcccagaacctttgaccgcttttgtggcctcatggttcaactt
ttacacaagctcagtgttcgagcagctgatggcccccagaagcttttgaaggtaattaag
aatccagtatcagatcactttccagttggatgtatgaaagttggcacttctttttccatc
ccggttgtcagtgatgtgcgtgagctggtgcccagcagtgatcctattgtttttgtggta
ggggcctttgcccatggcaaggtcagtgtggagtatacagagaagatggtgtccatcagt
aactaccccctttctgctgccctcacctgtgcaaaacttaccacagcctttgaggaagta
tggggggtcatttga

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