Tbio EMG1 Ribosomal RNA small subunit methyltransferase NEP1

Protein Summary

Description

S-adenosyl-L-methionine-dependent pseudouridine N(1)-methyltransferase that methylates pseudouridine at position 1248 (Psi1248) in 18S rRNA. Involved the biosynthesis of the hypermodified N1-methyl-N3-(3-amino-3-carboxypropyl) pseudouridine (m1acp3-Psi) conserved in eukaryotic 18S rRNA. Is not able to methylate uridine at this position (PubMed:20047967). Has also an essential role in 40S ribosomal subunit biogenesis independent on its methyltransferase activity, facilitating the incorporation of ribosomal protein S19 during the formation of pre-ribosomes (By similarity). This gene encodes an essential, conserved eukaryotic protein that methylates pseudouridine in 18S rRNA. The related protein in yeast 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Uniprot Accession IDs

• Q92979
• O00675
• O00726

Gene Name

• EMG1

Ensembl ID

• ENST00000599672
• ENSP00000470560
• ENSG00000126749

Symbol

• C2F
• C2F
• NEP1
• Grcc2f

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
disease perturbation	0.99
interacting protein	0.97
kinase perturbation	0.97
transcription factor binding site profile	0.86
virus perturbation	0.76

Protein Classes

PANTHER Classes

Protein / Nucleic Acid Binding / Rna Binding Protein / Ribosomal Protein / Ribosomal Rna Small Subunit Methyltransferase Nep1

DTO Classes

Protein / Nucleic Acid Binding / Rna Binding Protein / Ribosomal Protein / Ribosomal Rna Small Subunit Methyltransferase Nep1

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 319.59   (req: < 5)

Gene RIFs: 4   (req: <= 3)

Antibodies: 176   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 319.59   (req: >= 5)

Gene RIFs: 4   (req: > 3)

Antibodies: 176   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 8

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0