EMG1 Human; EMG1 Nucleolar Protein Human Recombinant; EMG1 nucleolar protein homolog (S. cerevisiae); 18S rRNA Psi1248 methyltransferase; 18S rRNA (pseudouridine-N1-)-methyltransferase NEP1; Ribosome biogenesis protein NEP1; essential for mitotic growth 1; ribosomal RNA small subunit methyltransferase NEP1; Protein C2f; BWCNS; Grcc2f; NEP1; EC 2.1.1.-

For Research Use Only. Not for use in diagnostic procedures.

E Coli

Greater than 95% as determined by SDS-PAGE.

The EMG1 solution (1mg/ml) contains 20mM Tris-HCl buffer (pH 8.0), 100mM Nacl, 1mM DTT and 20% glycerol.
Sterile Filtered colorless solution.

Small volumes of EMG1 recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Description: EMG1 Human Recombinant produced in E Coli is a single polypeptide chain containing 267 amino acids (1-244) and having a molecular mass of 29.1kDa.EMG1 is fused to a 23 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.

Introduction: EMG1 is a 244 aa protein which has a role in ribosome biogenesis. EMG1 is a key protein in the small ribosomal subunit assembly, controls methylation during ribosome synthesis and takes part in pre-18S rRNA processing. EMG1 is localized to the nucleolus and a mutation in this gene is linked with Bowen-Conradi syndrome.

RECOMBINANT & NATURAL PROTEINS; Recombinant Proteins

26,720 Da

EMG1 N1-specific pseudouridine methyltransferase

ribosomal RNA small subunit methyltransferase NEP1; 18S rRNA (pseudouridine(1248)-N1)-methyltransferase; 18S rRNA (pseudouridine-N1-)-methyltransferase NEP1; 18S rRNA Psi1248 methyltransferase; EMG1 nucleolar protein homolog; essential for mitotic growth 1; ribosome biogenesis protein NEP1

Ribosomal RNA small subunit methyltransferase NEP1

NEP1_HUMAN

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]

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: RNA-binding; EC 2.1.1.-; 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

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