• Gene id: 10436

Gene Summary

• Gene Symbol: EMG1   Gene   UCSC   Ensembl
• Aliases: C2F, Grcc2f, NEP1
• Gene name: EMG1 N1-specific pseudouridine methyltransferase
• Alternate names: 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, nuc,
• Gene location: 12p13.31 (6970912: 6997427)     Exons: 9     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 611531

Protein Summary

• Protein general information: Q92979  
  • Name: Ribosomal RNA small subunit methyltransferase NEP1 (EC 2.1.1. ) (18S rRNA (pseudouridine(1248) N1) methyltransferase) (18S rRNA Psi1248 methyltransferase) (Nucleolar protein EMG1 homolog) (Protein C2f) (Ribosome biogenesis protein NEP1)
  • Length: 244  
  • Mass: 26720
• Sequence:

  MAAPSDGFKPRERSGGEQAQDWDALPPKRPRLGAGNKIGGRRLIVVLEGASLETVKVGKTYELLNCDKHKSILLK
  NGRDPGEARPDITHQSLLMLMDSPLNRAGLLQVYIHTQKNVLIEVNPQTRIPRTFDRFCGLMVQLLHKLSVRAAD
  GPQKLLKVIKNPVSDHFPVGCMKVGTSFSIPVVSDVRELVPSSDPIVFVVGAFAHGKVSVEYTEKMVSISNYPLS
  AALTCAKLTTAFEEVWGVI

• Structural information:
  • Interpro: IPR029028  IPR005304  IPR029026  
  • PDB: 5FAI
  • PDBsum: 5FAI
  • STRING: ENSP00000470560
• Other Databases: GeneCards:  EMG1  Malacards:  EMG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005730	nucleolus	IBA	cellular component
GO:0019843	rRNA binding	IBA	molecular function
GO:0032040	small-subunit processome	IBA	cellular component
GO:0070037	rRNA (pseudouridine) methyltransferase activity	IBA	molecular function
GO:0070475	rRNA base methylation	IBA	biological process
GO:0070037	rRNA (pseudouridine) methyltransferase activity	IDA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0019843	rRNA binding	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0006364	rRNA processing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006364	rRNA processing	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001824	blastocyst development	IEA	biological process
GO:0017126	nucleologenesis	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0003723	RNA binding	ISS	molecular function
GO:0042274	ribosomal small subunit biogenesis	ISS	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0006364	rRNA processing	ISS	biological process
GO:0005730	nucleolus	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03008	Ribosome biogenesis in eukaryotes

Diseases

Associated diseases	References
Bowen-Conradi syndrome	KEGG:H00616
Bowen-Conradi syndrome	KEGG:H00616
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq