RBMS1: RNA Binding Motif Single Stranded Interacting Protein 1
A multifunctional RNA-binding protein involved in transcriptional regulation, splicing, and cancer biology.
Gene Information Card
| Symbol | RBMS1 |
|---|---|
| Full Name | RNA Binding Motif Single Stranded Interacting Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q24.2 |
| NCBI Gene ID | 5937 ncbi.nlm.nih.gov/gene/5937 |
| Ensembl ID | ENSG00000115947 |
| UniProt ID | P29558 |
| OMIM ID | 601197 |
| HGNC ID | 9907 |
| Aliases | C2orf12, MSSP-1, MSSP1, SCR2 |
Description
RBMS1 (RNA Binding Motif Single Stranded Interacting Protein 1) is a protein-coding gene located on chromosome 2q24.2. It encodes a member of the RNA-binding motif (RRM) family of proteins that can bind single-stranded DNA and RNA. RBMS1 is involved in transcriptional regulation, alternative splicing, and cell cycle control. It has been implicated in various cancers, including colorectal, breast, and lung cancer, where it may act as a tumor suppressor or oncogene depending on context.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | RBMS1 expression is frequently downregulated in colorectal tumors; loss may contribute to tumor progression via altered splicing and transcriptional targets. | NCBI Gene, COSMIC |
| Breast Cancer | RBMS1 is reported as a potential tumor suppressor; reduced expression correlates with poor prognosis. | NCBI Gene, COSMIC |
| Lung Cancer | RBMS1 alterations (mutations, copy number changes) are observed in lung adenocarcinoma; functional studies suggest roles in cell proliferation. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Colon | 5.4 | Low |
| Breast | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney; moderate expression |
| HeLa | 7.8 | Cervical carcinoma; moderate expression |
| A549 | 6.5 | Lung carcinoma; moderate expression |
| MCF7 | 5.1 | Breast carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Pro34Leu) | Missense | <0.1% | Unknown; reported in COSMIC |
| c.457G>A (p.Glu153Lys) | Missense | <0.1% | Unknown; reported in COSMIC |
| c.784_785insA (p.Thr262Asnfs*5) | Frameshift | <0.1% | Predicted loss of function; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr262Asnfs*5) are predicted to cause loss of function by truncating the protein and removing functional domains.
Gain of Function (GOF)
No well-characterized gain-of-function mutations have been reported for RBMS1.
Dominant Negative (DN)
No dominant-negative mutations have been described for RBMS1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)
• Processing of Capped Intron-Containing Pre-mRNA (Reactome: R-HSA-72203)
Protein Summary
The RBMS1 protein (UniProt P29558) contains two RNA recognition motifs (RRMs) and a C-terminal domain rich in glycine and arginine. It binds single-stranded DNA and RNA, and is involved in pre-mRNA splicing, transcriptional regulation, and cell cycle control. RBMS1 is predominantly nuclear but can shuttle to the cytoplasm. Its expression is altered in several cancers, suggesting a role in tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBMS1 Knockout HEK293 Cell Line | EDJ-KQ5639 | Human | 5937 | Details Get a Quote |
| RBMS1 Knockout HCT 116 Cell Line | EDJ-KQ28973 | Human | 5937 | Details Get a Quote |
| RBMS1 Knockout HeLa Cell Line | EDJ-KQ28974 | Human | 5937 | Details Get a Quote |
| RBMS1 Knockout A-549 Cell Line | EDJ-KQ27708 | Human | 5937 | Details Get a Quote |
