MEPCE (Methylphosphate Capping Enzyme)
A key regulator of snRNA and snoRNA processing via methylphosphate capping
Gene Information Card
| Symbol | MEPCE |
|---|---|
| Full Name | Methylphosphate Capping Enzyme |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 56257 ncbi.nlm.nih.gov/gene/56257 |
| Ensembl ID | ENSG00000106333 |
| UniProt ID | Q7L2J0 |
| OMIM ID | 611478 |
| HGNC ID | 26452 |
| Aliases | BCIP3, BCDIN3, Bicoid-interacting protein 3 |
Description
MEPCE encodes the methylphosphate capping enzyme, which catalyzes the addition of a methylphosphate cap to the 5' end of small nuclear RNAs (snRNAs) and small nucleolar RNAs (snoRNAs). This modification is essential for RNA stability, processing, and function in spliceosome assembly and ribosome biogenesis. MEPCE is also known as Bicoid-interacting protein 3 (BCIP3) and is involved in developmental regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Disruption of snRNA/snoRNA processing due to MEPCE mutations may impair splicing and ribosome function, leading to developmental phenotypes. | ClinVar; OMIM |
| Cancer (potential) | Altered MEPCE expression may affect RNA processing in tumorigenesis, though direct evidence is limited. | COSMIC; NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Heart | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 8.7 | Moderate expression |
| K562 | 6.5 | Low expression |
| HepG2 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon, likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | Rare | Unknown functional effect |
| c.250G>A (p.Gly84Arg) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting the catalytic domain or start codon may impair methylphosphate capping activity, leading to snRNA/snoRNA instability.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • RNA methyltransferase activity | • snRNA processing |
| • snoRNA processing | • nucleus |
| • methylphosphate capping |
Pathways
• snRNA processing
• snoRNA processing
• RNA modification
Protein Summary
MEPCE is a 7-methylguanosine methylphosphate capping enzyme that specifically modifies the 5' end of snRNAs and snoRNAs. It contains a methyltransferase domain and is localized to the nucleus. The enzyme is essential for proper RNA processing and has been implicated in developmental regulation through interaction with Bicoid.
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