RDM1 (Rad52 Motif Containing 1)
A gene encoding a protein involved in DNA repair and homologous recombination, with potential roles in cancer susceptibility.
Gene Information Card
| Symbol | RDM1 |
|---|---|
| Full Name | Rad52 Motif Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 201299 ncbi.nlm.nih.gov/gene/201299 |
| Ensembl ID | ENSG00000187608 |
| UniProt ID | Q8NG50 |
| OMIM ID | 615599 |
| HGNC ID | 28347 |
| Aliases | RDM1, FLJ11184, MGC138290 |
Description
RDM1 (Rad52 Motif Containing 1) is a protein-coding gene located on chromosome 17q11.2. The encoded protein contains a Rad52 motif, suggesting a role in DNA repair and homologous recombination. RDM1 is involved in the cellular response to DNA damage and may influence genomic stability. Its expression is observed in various tissues, and alterations have been linked to cancer susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | RDM1 may modulate DNA repair pathways; variants could affect homologous recombination efficiency, increasing cancer risk. | COSMIC; ClinVar |
| Ovarian Cancer | Similar mechanism as breast cancer; RDM1 expression changes observed in tumor samples. | COSMIC; NCBI Gene |
| Lung Cancer | RDM1 mutations and altered expression reported in lung adenocarcinoma. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone Marrow | 8.2 | Low |
| Lymph Node | 6.1 | Low |
| Brain | 3.4 | Not detected |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| MCF7 | 5.6 | Breast cancer cells |
| A549 | 4.2 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Nonsense | <0.01% | Loss of function |
| c.200_201del | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in RDM1 are predicted to result in truncated or absent protein, impairing DNA repair.
Gain of Function (GOF)
No gain-of-function mutations have been reported for RDM1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for RDM1.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • protein binding (GO:0005515) |
| • DNA recombination (GO:0006310) | • DNA repair (GO:0006281) |
| • nucleus (GO:0005634) |
Pathways
• Homologous recombination
• DNA damage response
Protein Summary
The RDM1 protein (UniProt Q8NG50) contains a Rad52 motif, which is characteristic of proteins involved in homologous recombination and DNA repair. It localizes to the nucleus and binds DNA, facilitating repair of double-strand breaks. RDM1 may interact with other repair factors to maintain genomic integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RDM1 Knockout HEK293 Cell Line | EDJ-KQ4022 | Human | 201299 | Details Get a Quote |
| RDM1 Knockout A-549 Cell Line | EDJ-KQ27579 | Human | 201299 | Details Get a Quote |
| RDM1 Knockout HCT 116 Cell Line | EDJ-KQ27580 | Human | 201299 | Details Get a Quote |
| RDM1 Knockout HeLa Cell Line | EDJ-KQ27581 | Human | 201299 | Details Get a Quote |
