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Information on EC 2.1.1.257 - tRNA (pseudouridine54-N1)-methyltransferase and Organism(s) Homo sapiens and UniProt Accession Q92979

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EC Tree
IUBMB Comments
While this archaeal enzyme is specific for the 54 position and does not methylate pseudouridine at position 55, the presence of pseudouridine at position 55 is necessary for the efficient methylation of pseudouridine at position 54 [2,3].
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This record set is specific for:
Homo sapiens
UNIPROT: Q92979
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Word Map
The taxonomic range for the selected organisms is: Homo sapiens
The expected taxonomic range for this enzyme is: Archaea, Bacteria, Eukaryota
Synonyms
cog1901, hvo_1989, duf358, duf358/mj1640, mja_1640, pseudouridine n1-specific methyltransferase, more
SYNONYM
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
pseudouridine-N1-specific methyltransferase
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ribosome assembly factor Nep1
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m1PSI methyltransferase
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TrmY
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SYSTEMATIC NAME
IUBMB Comments
S-adenosyl-L-methionine:tRNA (pseudouridine54-N1)-methyltransferase
While this archaeal enzyme is specific for the 54 position and does not methylate pseudouridine at position 55, the presence of pseudouridine at position 55 is necessary for the efficient methylation of pseudouridine at position 54 [2,3].
ORGANISM
COMMENTARY hide
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
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UniProt
Manually annotated by BRENDA team
GENERAL INFORMATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
evolution
Nep1 structure reveals a dimer with a fold similar to the SPOUT-class of RNA-methyltransferases
malfunction
a mutation in the human Nep1 homolog causes Bowen-Conradi syndrome, a severe developmental disorder
physiological function
Nep1 acts as a methyltransferase in ribosome biogenesis
UNIPROT
ENTRY NAME
ORGANISM
NO. OF AA
NO. OF TRANSM. HELICES
MOLECULAR WEIGHT[Da]
SOURCE
SEQUENCE
LOCALIZATION PREDICTION?
NEP1_HUMAN
244
0
26720
Swiss-Prot
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SUBUNIT
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
dimer
Nep1 structure reveals a dimer with a fold similar to the SPOUT-class of RNA-methyltransferases
REF.
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Wurm, J.; Meyer, B.; Bahr, U.; Held, M.; Frolow, O.; Koetter, P.; Engels, J.; Heckel, A.; Karas, M.; Entian, K.; Woehnert, J.
The ribosome assembly factor Nep1 responsible for Bowen-Conradi syndrome is a pseudouridine-N1-specific methyltransferase
Nucleic Acids Res.
38
2387-2398
2010
Homo sapiens (Q92979), Homo sapiens, Methanocaldococcus jannaschii (Q57977), Methanocaldococcus jannaschii, Methanocaldococcus jannaschii DSM 2661 (Q57977)
Manually annotated by BRENDA team