RTL10 (Retrotransposon Gag Like 10)
A primate-specific retrotransposon-derived gene with potential roles in placental development and cancer.
Gene Information Card
| Symbol | RTL10 |
|---|---|
| Full Name | Retrotransposon Gag Like 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.31 |
| NCBI Gene ID | 150538 ncbi.nlm.nih.gov/gene/150538 |
| Ensembl ID | ENSG00000184983 |
| UniProt ID | Q6ZRI6 |
| OMIM ID | 618614 |
| HGNC ID | 33889 |
| Aliases | SIRH10, MART10 |
Description
RTL10 (Retrotransposon Gag Like 10), also known as SIRH10 or MART10, is a primate-specific gene derived from a retrotransposon Gag-like ancestor. It encodes a protein of unknown function but is predicted to be involved in placental development and has been implicated in certain cancers. The gene is located on chromosome 22q13.31 and is expressed in a range of tissues, with notable expression in the placenta and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may contribute to tumorigenesis; specific mechanism unclear. | Expression data from COSMIC and literature. |
| Placental disorders | Potential role in placental development; loss-of-function may affect trophoblast function. | Inferred from gene family studies (SIRH genes). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 12.5 | Medium |
| Testis | 8.2 | Low |
| Brain | 3.1 | Not detected |
| Lung | 2.5 | Not detected |
| Liver | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.0 | Low expression |
| HeLa | 2.3 | Not detected |
| K562 | 1.1 | Not detected |
| MCF7 | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Unknown |
| c.45C>T | Nonsense | <0.1% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.45C>T) are predicted to cause loss of function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • Molecular function: Not characterized | • Biological process: Not characterized |
| • Cellular component: Not characterized |
Pathways
• Not assigned to any canonical pathway.
Protein Summary
The RTL10 protein (UniProt Q6ZRI6) is a 244-amino acid protein with no known functional domains. It is predicted to be intracellular and may localize to the cytoplasm. Its biological role remains largely unknown, but it is thought to be involved in placental development based on its expression pattern and evolutionary conservation in primates.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RTL10 Knockout HEK293 Cell Line | EDJ-KQ15141 | Human | 79680 | Details Get a Quote |
| RTL10 Knockout A-549 Cell Line | EDJ-KQ45736 | Human | 79680 | Details Get a Quote |
| RTL10 Knockout HCT 116 Cell Line | EDJ-KQ45737 | Human | 79680 | Details Get a Quote |
| RTL10 Knockout HeLa Cell Line | EDJ-KQ45738 | Human | 79680 | Details Get a Quote |
