Entity Details

Primary name NEP1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ92979
EntryNameNEP1_HUMAN
FullNameRibosomal RNA small subunit methyltransferase NEP1
TaxID9606
Evidenceevidence at protein level
Length244
SequenceStatuscomplete
DateCreated2002-05-10
DateModified2021-06-02

Ontological Relatives

GenesEMG1

GO terms

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GOName
GO:0001824 blastocyst development
GO:0003723 RNA binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0006364 rRNA processing
GO:0017126 nucleologenesis
GO:0019843 rRNA binding
GO:0032040 small-subunit processome
GO:0042274 ribosomal small subunit biogenesis
GO:0042802 identical protein binding
GO:0070037 rRNA (pseudouridine) methyltransferase activity
GO:0070475 rRNA base methylation

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR005304 Ribosomal biogenesis, methyltransferase, EMG1/NEP1FamilyFamily
IPR029026 tRNA (guanine-N1-)-methyltransferase, N-terminalFamilyHomologous superfamily
IPR029028 Alpha/beta knot methyltransferasesFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
211180 OMIMBowen-Conradi syndrome (BWCNS)A combination of malformations characterized in newborns by low birth weight, microcephaly, mild joint restriction, a prominent nose, micrognathia, fifth finger clinodactyly, and 'rocker-bottom' feet. The syndrome is transmitted as an autosomal recessive trait. The prognosis is poor, with all infants dying within the first few months of life. The disease is caused by variants affecting the gene represented in this entry.