RAMACL
RNA guanine-7 methyltransferase activating subunit like
Gene Information Card
| Symbol | RAMACL |
|---|---|
| Full Name | RNA guanine-7 methyltransferase activating subunit like |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.2 |
| NCBI Gene ID | 100131731 ncbi.nlm.nih.gov/gene/100131731 |
| Ensembl ID | ENSG00000203782 |
| UniProt ID | A6NKD9 |
| OMIM ID | 617700 |
| HGNC ID | 33795 |
| Aliases | MGC26733, FLJ39653 |
Description
RAMACL (RNA guanine-7 methyltransferase activating subunit like) is a protein-coding gene located on chromosome 1q21.2. It encodes a protein that is similar to the RNA guanine-7 methyltransferase activating subunit, which is involved in mRNA capping. The exact biological function of RAMACL is not fully characterized, but it is predicted to play a role in RNA processing and modification.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations | Not established | No curated evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.3 | Low |
| Lymph node | 0.2 | Low |
| Spleen | 0.1 | Low |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.1 | Low expression |
| K562 | 0.0 | Not detected |
| HeLa | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • methyltransferase activity |
| • mRNA capping |
Pathways
• mRNA capping pathway (predicted)
Protein Summary
The RAMACL protein is a 244-amino acid polypeptide with a predicted molecular weight of 27.5 kDa. It contains a conserved domain similar to the RNA guanine-7 methyltransferase activating subunit, suggesting a role in the formation of the mRNA cap structure. Subcellular localization is predicted to be nuclear.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAMACL Knockout HEK293 Cell Line | EDJ-KQ14242 | Human | 353267 | Details Get a Quote |
| RAMACL Knockout A-549 Cell Line | EDJ-KQ45492 | Human | 353267 | Details Get a Quote |
| RAMACL Knockout HCT 116 Cell Line | EDJ-KQ45494 | Human | 353267 | Details Get a Quote |
| RAMACL Knockout HeLa Cell Line | EDJ-KQ45495 | Human | 353267 | Details Get a Quote |
