Ribosomal RNA small subunit methyltransferase NEP1; 211-; 18S rRNA (pseudouridine(1248)-N1)-methyltransferase; 18S rRNA Psi1248 methyltransferase; Nucleolar protein EMG1 homolog; Protein C2f; Ribosome biogenesis protein NEP1; EMG1 {ECO:0000303|PubMed:19463982}

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

Polyclonal

Rabbit Ig

Rabbit

This EMG1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 104-133 amino acids from the Central region of human EMG1.

Peptide Affinity Purified Rabbit Polyclonal Antibody (Pab)

Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.

Vial Concentration: 0.5 (lot specific)

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

Small volumes of anti-EMG1 antibody 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.

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.

Western Blot (WB), ELISA (EIA), Flow Cytometry (FC/FACS)

WB~~1:1000

EMG1 Antibody (Center) western blot analysis in Hela cell line lysates (35ug/lane).This demonstrates the EMG1 antibody detected the EMG1 protein (arrow).

EMG1 Antibody (Center) flow cytometric analysis of Hela cells (right histogram) compared to a negative control cell (left histogram).FITC-conjugated goat-anti-rabbit secondary antibodies were used for the analysis.

26720

EMG1 N1-specific pseudouridine methyltransferase

ribosomal RNA small subunit methyltransferase 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: Nucleolus; RNA-binding; EC 2.1.1.-

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

Armistead, J., et al. Am. J. Hum. Genet. 84(6):728-739(2009)
Lamesch, P., et al. Genomics 89(3):307-315(2007)
Lamont, R.E., et al. Am. J. Med. Genet. A 132A (2), 136-143 (2005) :
Bernstein, K.A., et al. Eukaryotic Cell 3(6):1619-1626(2004)
Eschrich, D., et al. Curr. Genet. 40(5):326-338(2002)

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