EAW88698.1
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
EMG1 nucleolar protein homolog (S. cerevisiae), isoform CRA_e
NCBI Official Synonym Full Names
EMG1 N1-specific pseudouridine methyltransferase
NCBI Protein Information
ribosomal RNA small subunit methyltransferase NEP1; EMG1 nucleolar protein homolog; essential for mitotic growth 1; ribosome biogenesis protein NEP1; 18S rRNA Psi1248 methyltransferase; 18S rRNA (pseudouridine-N1-)-methyltransferase NEP1
UniProt Protein Name
Ribosomal RNA small subunit methyltransferase NEP1
UniProt Synonym Protein Names
18S rRNA (pseudouridine(1248)-N1)-methyltransferase; 18S rRNA Psi1248 methyltransferase; Nucleolar protein EMG1 homolog; Protein C2f; Ribosome biogenesis protein NEP1
UniProt Entry Name
NEP1_HUMAN
NCBI Summary for EMG1
This gene encodes an essential, conserved eukaryotic protein involved in ribosome biogenesis. In yeast, the related protein is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Conradi syndrome.[provided by RefSeq, May 2010]
UniProt Comments for EMG1
C2F: Involved in 40S ribosomal subunit biogenesis and 18S rRNA processing. Specifically catalyzes the N1-methylation of pseudouridine at position 1248 (Psi1248) in 18S rRNA. Thus, appears to be the methyltransferase involved in the biosynthesis of the hypermodified N1-methyl-N3-(3-amino-3-carboxypropyl) pseudouridine (m1acp3-Psi) in position 1248 in 18S rRNA. Is not able to methylate uridine at this position. Defects in EMG1 are the cause of Bowen-Conradi syndrome (BWCNS). BWCNS is 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. Belongs to the NEP1 family.
Protein type: EC 2.1.1.-; RNA-binding; Nucleolus
Chromosomal Location of Human Ortholog: 12p13.3
Cellular Component: cytoplasm; nucleolus; nucleus
Molecular Function: rRNA binding; RNA binding
Biological Process: ribosomal small subunit biogenesis and assembly; rRNA methylation; rRNA processing
Disease: Bowen-conradi Syndrome
Research Articles on EMG1
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Products associated with anti-EMG1 antibody
Pathways associated with anti-EMG1 antibody
Diseases associated with anti-EMG1 antibody
Organs/Tissues associated with anti-EMG1 antibody
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