EMG1

Chr 12p13.31

EMG1 N1-specific pseudouridine methyltransferase

Aliases:: C2F, NEP1, Grcc2f
MANE:: ENST00000599672.6

OMIM: 611531 ↗NCBI: 10436 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

EMG1 · Q92979

v62025-08-01

Predicted Aligned Error matrix for EMG1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.0/ 100

Confident

244 residues

Confidence breakdown

Very high(≥ 90)81%
Confident(70–90)4%
Low(50–70)7%
Very low(< 50)9%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Bowen-Conradi syndrome
0.67
hereditary disease
0.18
neurodegenerative disease
0.09
retinitis pigmentosa
0.08
Progressive cone dystrophy
0.08
Cone rod dystrophy
0.08
melanoma
0.07
Familial exudative vitreoretinopathy
0.07
Leber congenital amaurosis
0.07
achromatopsia
0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Ribosomal RNA small subunit methyltransferase NEP1

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). Also has 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). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797)