EC Number |
General Information |
Reference |
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2.1.1.260 | evolution |
Nep1 belongs to the SPOUT-class RNA methyltransferases, Nep1 subfamily |
720582 |
2.1.1.260 | evolution |
Nep1 is a member of the SPOUT-family of methyltransferases |
720587 |
2.1.1.260 | malfunction |
a temperature-sensitive ScNEP1ts1 allele is isolated and reveals a strongly increased sensitivity to paromomycin, a translational inhibitor which binds to RNA, indicating that ribosome biogenesis within the nucleolus is probably affected. Candida albicans and human NEP1 heterologously complement the essential phenotype in a Saccharomyces cerevisiae nep1 deletion mutant, the ScNEP1 spindle/microtubule phenotype is not found with HsNEP1 and CaNEP1 |
-, 719322 |
2.1.1.260 | malfunction |
addition of SAM to the medium restores growth at elevated temperatures in yeast with temperature sensitive mutants of the yeast Nep1 protein |
-, 720579 |
2.1.1.260 | malfunction |
lethal phenotype of a DELTAnep1 deletion, deletions in ribosome quality and functional control genes lead to DELTAnep1 growth deficiency. Except for DELTArps18b, deletions in the identified ribosome biogenesis genes are synthetically lethal with DELTAnep1. The DELTAutp30 deletion itself has no phenotype but it enforces all nep1-1ts mutant phenotypes, utp30 overexpression partially restores the nep1-1ts growth deficiency |
721118 |
2.1.1.260 | malfunction |
mutations in Nep1 result in decreased methyl donor binding, but do not result in lethality |
720589 |
2.1.1.260 | malfunction |
Nep1 mutation D86G causes the Bowen-Conradi syndrome, BCS, that results in severe pre and postnatal growth and psychomotor retardation, microcephaly, micrognathia, rocker bottom feet and early childhood death, overview. Human HsNep1D86G protein shows a strongly increased interaction of the monomers |
720587 |
2.1.1.260 | malfunction |
restored growth of a nep1-1ts mutant upon addition of S-adenosylmethionine also after preventing U1191 methylation in a DElTAsnr35 mutant. Nep1 methyltransferase activity is not affected upon introduction of the Bowen-Conradi syndrome, BCS, D86G mutation. Instead, the mutated protein shows enhanced dimerization propensity and increased affinity for its RNA-target in vitro |
720587 |
2.1.1.260 | metabolism |
Nep1 interacting genes correspond to ribosome biogenesis, i.e. RPS18A, RPS18B, RRP8, EFG1, UTP30, to ribosome quality control, i.e. UBP3, BRE5, UBP6, and to ribosome functional control, i.e. DOM34, no-go decay |
721118 |
2.1.1.260 | metabolism |
replacement of U1191 by any other base caused significant growth deficiencies |
720587 |