MSI1 (Musashi RNA Binding Protein 1)
A key regulator of stem cell self-renewal and tumorigenesis
Gene Information Card
| Symbol | MSI1 |
|---|---|
| Full Name | musashi RNA binding protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 4440 ncbi.nlm.nih.gov/gene/4440 |
| Ensembl ID | ENSG00000135097 |
| UniProt ID | O43347 |
| OMIM ID | 603358 |
| HGNC ID | 7330 |
| Aliases | MSI1H, Musashi-1, Msi1 |
Description
MSI1 encodes Musashi-1, an RNA-binding protein that regulates translation of target mRNAs involved in stem cell maintenance, cell cycle, and differentiation. It is highly expressed in neural stem cells and various cancers, promoting self-renewal and tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glioblastoma | MSI1 overexpression enhances stemness and tumor growth via post-transcriptional regulation of NUMB and CDKN1A | PMID: 20010871 |
| Colorectal cancer | MSI1 upregulation correlates with poor prognosis and promotes Wnt/β-catenin signaling | PMID: 22955918 |
| Breast cancer | MSI1 drives epithelial-mesenchymal transition and metastasis through NOTCH pathway activation | PMID: 25624455 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Colon | 8.3 | Low |
| Breast | 6.1 | Low |
| Testis | 15.2 | Medium |
| Ovary | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| U-87 MG (glioblastoma) | 18.5 | High expression |
| HCT 116 (colorectal) | 12.3 | Moderate expression |
| MCF7 (breast) | 9.8 | Low expression |
| HEK 293 (embryonic kidney) | 5.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.1% | Unknown functional impact |
| c.457G>A (p.Gly153Arg) | Missense | <0.1% | Reported in COSMIC; potential loss of RNA binding |
| c.784_785insA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely disrupt RNA-binding domains, reducing translational regulation.
Gain of Function (GOF)
Not well characterized; overexpression in tumors suggests oncogenic gain-of-function via increased target mRNA stabilization.
Dominant Negative (DN)
Not reported for MSI1.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA 3'-UTR binding |
| • translation regulator activity | • nucleus |
| • cytoplasm | • stem cell population maintenance |
| • cell differentiation | • negative regulation of translation |
Pathways
• NOTCH signaling pathway
• Wnt signaling pathway
• p53 pathway regulation
• stem cell pluripotency
Protein Summary
Musashi-1 is a 362-amino acid RNA-binding protein with two N-terminal RNA recognition motifs (RRMs). It binds to target mRNAs such as NUMB, CDKN1A, and MYC, repressing their translation. It plays a critical role in maintaining stem cell identity and is frequently upregulated in cancers, where it promotes proliferation, invasion, and chemoresistance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MSI1 Knockout HEK293 Cell Line | EDJ-KQ5243 | Human | 4440 | Details Get a Quote |
| MSI1 Knockout HCT 116 Cell Line | EDJ-KQ27038 | Human | 4440 | Details Get a Quote |
| MSI1 Knockout HeLa Cell Line | EDJ-KQ53905 | Human | 4440 | Details Get a Quote |
| MSI1 Knockout A-549 Cell Line | EDJ-KQ62396 | Human | 4440 | Details Get a Quote |
