EMG1
EMG1 N1-Specific Pseudouridine Methyltransferase
Gene Information Card
| Symbol | EMG1 |
|---|---|
| Full Name | EMG1 N1-specific pseudouridine methyltransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 10436 ncbi.nlm.nih.gov/gene/10436 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | Q92979 |
| OMIM ID | 611531 |
| HGNC ID | 16912 |
| Aliases | C2F, EMG1L, NEP1 |
Description
EMG1 encodes a methyltransferase that catalyzes the N1-methylation of pseudouridine at position 1191 in 18S rRNA, a critical step in small ribosomal subunit biogenesis. The protein is localized to the nucleolus and is essential for pre-rRNA processing and ribosome assembly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bowen-Conradi syndrome | Loss-of-function mutations in EMG1 impair 18S rRNA methylation, leading to defective ribosome biogenesis and developmental abnormalities. | OMIM #211180; PMID: 19264732 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Lymph node | 8.7 | Medium |
| Brain | 6.5 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | High expression |
| HeLa | 8.5 | Moderate expression |
| K562 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.244A>G (p.Met82Val) | Missense | Found in Bowen-Conradi syndrome | Reduced methyltransferase activity and impaired ribosome biogenesis |
| c.307C>T (p.Arg103Trp) | Missense | Rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Met82Val) reduce or abolish methyltransferase activity, leading to defective 18S rRNA processing.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • rRNA methylation | • ribosome biogenesis |
| • nucleolus | • methyltransferase activity |
| • RNA binding |
Pathways
• Ribosome biogenesis in eukaryotes (KEGG: hsa03008)
• rRNA processing
Protein Summary
EMG1 is a nucleolar methyltransferase essential for 18S rRNA maturation. It specifically methylates pseudouridine at position 1191 in 18S rRNA, a modification required for proper ribosome assembly. Mutations in EMG1 cause Bowen-Conradi syndrome, a severe autosomal recessive disorder characterized by growth retardation and neurological impairment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EMG1 Knockout HEK293 Cell Line | EDJ-KQ3960 | Human | 10436 | Details Get a Quote |
| SEMG1 Knockout HEK293 Cell Line | EDJ-KQ5735 | Human | 6406 | Details Get a Quote |
| EMG1 Knockout HeLa Cell Line | EDJ-KQ24888 | Human | 10436 | Details Get a Quote |
| EMG1 Knockout A-549 Cell Line | EDJ-KQ26231 | Human | 10436 | Details Get a Quote |
| EMG1 Knockout HCT 116 Cell Line | EDJ-KQ26232 | Human | 10436 | Details Get a Quote |
| SEMG1 Knockout HeLa Cell Line | EDJ-KQ54442 | Human | 6406 | Details Get a Quote |
| SEMG1 Knockout A-549 Cell Line | EDJ-KQ62933 | Human | 6406 | Details Get a Quote |
| SEMG1 Knockout HCT 116 Cell Line | EDJ-KQ71402 | Human | 6406 | Details Get a Quote |
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