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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
Gene Name
Ensembl ID
  • ENST00000599672
  • ENSP00000470560
  • ENSG00000126749

Symbol
  • C2F
  • C2F
  • NEP1
  • Grcc2f
Illumination Graph
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


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: 232.38   (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: 232.38   (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
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (369)
CYP1A1
Tchem
Novelty:  0.0002404
p_int:  0.998182292
p_ni:  0.000001915
p_wrong:  0.001815794
Score:  0.225
Data Source:  BioPlex,STRINGDB
UTP18
Tdark
Novelty:  0.1719213
Score:  0.999
Data Source:  STRINGDB
BYSL
Tbio
Novelty:  0.01919968
Score:  0.999
Data Source:  STRINGDB
NOP14
Tbio
Novelty:  0.08903014
Score:  0.999
Data Source:  STRINGDB
DCAF13
Tbio
Novelty:  0.02796363
Score:  0.998
Data Source:  STRINGDB
IMP4
Tdark
Novelty:  9.64444444
Score:  0.998
Data Source:  STRINGDB
NOP56
Tbio
Novelty:  0.01256937
Score:  0.998
Data Source:  STRINGDB
NOC4L
Tdark
Novelty:  0.39929311
Score:  0.998
Data Source:  STRINGDB
FBL
Tbio
Family:  Enzyme
Novelty:  0.00080634
Score:  0.998
Data Source:  STRINGDB
RRP9
Tbio
Novelty:  0.07232317
Score:  0.998
Data Source:  STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (6)
Major pathway of rRNA processing in the nucleolus and cytosol (R-HSA-6791226)

Click on a row in the table to change the structure displayed.

Find Similar Targets
Items per page:
1 – 5 of 5
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Major pathway of rRNA processing in the nucleolus and cytosol
Reactome
Metabolism of RNA
Reactome
rRNA modification in the nucleus and cytosol
Reactome
rRNA processing
Reactome
rRNA processing in the nucleus and cytosol
Name
Explore in Pharos
Explore in Source
Major pathway of rRNA processing in the nucleolus and cytosol
Metabolism of RNA
rRNA modification in the nucleus and cytosol
rRNA processing
rRNA processing in the nucleus and cytosol
Viral Interactions (0)
No viral interactions found
Disease Associations (null)
No disease associations found
GWAS Traits (18)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
oleic acid measurement
2
3
3
95.7
docosapentaenoic acid measurement
1
2
2
92.8
fatty acid measurement
1
2
2
92.8
linolenic acid measurement
1
2
2
92.8
arachidonic acid measurement
1
2
2
92.8
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
oleic acid measurement
3
95.7
docosapentaenoic acid measurement
2
92.8
fatty acid measurement
2
92.8
linolenic acid measurement
2
92.8
arachidonic acid measurement
2
92.8
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (14)
1 – 5 of 14
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Macaque
EMG1, N1-specific pseudouridine methyltransferase
722122
Mouse
MGI:1315195
14791
Rat
RGD:1307665
312706
Dog
EMG1, N1-specific pseudouridine methyltransferase
477708
Horse
EMG1, N1-specific pseudouridine methyltransferase
100052984
Species
Name
OMA
EggNOG
Inparanoid
Macaque
EMG1, N1-specific pseudouridine methyltransferase
Mouse
Rat
Dog
EMG1, N1-specific pseudouridine methyltransferase
Horse
EMG1, N1-specific pseudouridine methyltransferase
Publication Statistics
PubMed Score 232.38
PubMed score by year
PubTator Score 51.27
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title