RNGTT: mRNA Capping Enzyme
RNA guanylyltransferase and 5'-phosphatase
Gene Information Card
| Symbol | RNGTT |
|---|---|
| Full Name | RNA guanylyltransferase and 5'-phosphatase |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.11 |
| NCBI Gene ID | 8732 ncbi.nlm.nih.gov/gene/8732 |
| Ensembl ID | ENSG00000136826 |
| UniProt ID | O60942 |
| OMIM ID | 603512 |
| HGNC ID | 10073 |
| Aliases | HCE, hCAP, MCE, mRNA capping enzyme |
Description
RNGTT encodes the bifunctional mRNA capping enzyme that catalyzes the addition of a 5' cap to nascent mRNA. The enzyme has RNA 5'-triphosphatase and mRNA guanylyltransferase activities, essential for mRNA stability, nuclear export, and translation initiation. It is ubiquitously expressed and plays a critical role in gene expression regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered RNGTT expression may affect mRNA capping efficiency, impacting oncogene or tumor suppressor transcript stability. | COSMIC; PMID: 23535731 |
| Hepatocellular carcinoma | Reduced RNGTT activity linked to impaired mRNA processing and tumor progression. | COSMIC; PMID: 25355519 |
| Acute myeloid leukemia | RNGTT mutations identified in AML patients, potentially disrupting cap-dependent translation. | COSMIC; PMID: 26619011 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Lymph node | 9.8 | Medium |
| Brain | 7.2 | Medium |
| Liver | 6.1 | Medium |
| Heart | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Embryonic kidney |
| HeLa | 8.9 | Cervical carcinoma |
| K562 | 7.6 | Leukemia |
| HepG2 | 6.8 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | 0.02% | Reduced guanylyltransferase activity |
| c.1567G>A (p.Glu523Lys) | Missense | 0.01% | Altered substrate binding |
| c.2014_2015insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the catalytic domain, reducing capping efficiency.
Gain of Function (GOF)
Not reported in RNGTT.
Dominant Negative (DN)
Missense mutations in the active site may interfere with wild-type enzyme function.
View complete mutation data：
Gene Ontology (GO)
| • mRNA capping | • RNA guanylyltransferase activity |
| • RNA 5'-triphosphatase activity | • nucleus |
| • cytoplasm | • mRNA processing |
| • GTP binding |
Pathways
• mRNA capping (Reactome: R-HSA-77075)
• Processing of capped intron-containing pre-mRNA (Reactome: R-HSA-72203)
Protein Summary
The RNGTT protein (UniProt O60942) is a bifunctional enzyme with N-terminal triphosphatase and C-terminal guanylyltransferase domains. It catalyzes the first two steps of mRNA cap formation: removal of the 5' gamma-phosphate and transfer of GMP to the diphosphate end. The enzyme is essential for cell viability and is regulated by phosphorylation.
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