Description
| Product Name: | Human EMG1 Recombinant Protein |
| Product Code: | RPPB3446 |
| Size: | 20µg |
| Species: | Human |
| Target: | EMG1 |
| Synonyms: | 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.-. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered colorless solution. |
| Formulation: | The EMG1 solution (1mg/ml) contains 20mM Tris-HCl buffer (pH 8.0), 100mM Nacl, 1mM DTT and 20% glycerol. |
| Stability: | Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles. |
| Purity: | Greater than 95% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MGSMAAPSDG FKPRERSGGE QAQDWDALPP KRPRLGAGNK IGGRRLIVVL EGASLETVKV GKTYELLNCD KHKSILLKNG RDPGEARPDI THQSLLMLMD SPLNRAGLLQ VYIHTQKNVL IEVNPQTRIP RTFDRFCGLM VQLLHKLSVR AADGPQKLLK VIKNPVSDHF PVGCMKVGTS FSIPVVSDVR ELVPSSDPIV FVVGAFAHGK VSVEYTEKMV SISNYPLSAA LTCAKLTTAF EEVWGVI |
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.
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.
| UniProt Protein Function: | 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. |
| UniProt Protein Details: | 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 |
| NCBI Summary: | 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 Code: | Q92979 |
| NCBI GenInfo Identifier: | 20532172 |
| NCBI Gene ID: | 10436 |
| NCBI Accession: | Q92979.4 |
| UniProt Secondary Accession: | Q92979,O00675, O00726, |
| UniProt Related Accession: | Q92979 |
| Molecular Weight: | 244 |
| NCBI Full Name: | Ribosomal RNA small subunit methyltransferase NEP1 |
| NCBI Synonym Full Names: | EMG1 N1-specific pseudouridine methyltransferase |
| NCBI Official Symbol: | EMG1�� |
| NCBI Official Synonym Symbols: | C2F; NEP1; Grcc2f�� |
| 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(1248)-N1)-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 Gene Name: | EMG1�� |
| UniProt Entry Name: | NEP1_HUMAN |
