RAMAC Gene
RNA Uracil Methyltransferase Accessory Component
Gene Information Card
| Symbol | RAMAC |
|---|---|
| Full Name | RNA Uracil Methyltransferase Accessory Component |
| Gene Type | Protein coding |
| Chromosomal Location | 15q22.31 |
| NCBI Gene ID | 55770 ncbi.nlm.nih.gov/gene/55770 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q9H6K4 |
| OMIM ID | 617903 |
| HGNC ID | 26167 |
| Aliases | C15orf39, FLJ20331, MGC138290 |
Description
The RAMAC gene encodes an accessory component of the RNA uracil methyltransferase complex, involved in post-transcriptional modification of RNA. It is located on chromosome 15q22.31 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.1 | Low |
| Liver | 6.3 | Low |
| Heart | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | Moderate expression |
| HeLa | 9.8 | Moderate expression |
| K562 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.001 | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • nucleus (GO:0005634) |
Pathways
• RNA modification
Protein Summary
The RAMAC protein is a component of the RNA uracil methyltransferase complex, likely involved in the methylation of uracil residues in RNA. It localizes to the nucleus and binds RNA.
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 |
| RAMAC Knockout HEK293 Cell Line | EDJ-KQ51787 | Human | 83640 | Details Get a Quote |
| RAMAC Knockout HeLa Cell Line | EDJ-KQ57457 | Human | 83640 | Details Get a Quote |
| RAMAC Knockout A-549 Cell Line | EDJ-KQ65962 | Human | 83640 | Details Get a Quote |
| RAMAC Knockout HCT 116 Cell Line | EDJ-KQ74385 | Human | 83640 | Details Get a Quote |
