PROM1 (Prominin-1/CD133): A Multifaceted Stem Cell Marker and Disease-Associated Gene
Comprehensive genomic, expression, and clinical insights into PROM1, a pentaspan transmembrane glycoprotein implicated in retinal degeneration, cancer stemness, and developmental disorders.
Gene Information Card
| Symbol | PROM1 |
|---|---|
| Full Name | Prominin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p15.32 |
| NCBI Gene ID | 8842 ncbi.nlm.nih.gov/gene/8842 |
| Ensembl ID | ENSG00000007062 |
| UniProt ID | O43490 |
| OMIM ID | 604365 |
| HGNC ID | 9454 |
| Aliases | CD133, AC133, PROML1, MSTP061, RP41 |
Description
PROM1 encodes prominin-1, a pentaspan transmembrane glycoprotein localized to plasma membrane protrusions. It is a well-known marker of hematopoietic and neural stem cells, and plays roles in maintaining stem cell properties, retinal photoreceptor disk morphogenesis, and cell polarity. Mutations in PROM1 cause autosomal recessive retinitis pigmentosa (RP41) and Stargardt disease-like macular dystrophy. PROM1 is also implicated in various cancers, where its expression correlates with tumor progression and poor prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa 41 (RP41) | Loss-of-function mutations (e.g., frameshift, nonsense) lead to truncated protein, disrupting photoreceptor disk formation and causing progressive retinal degeneration. | ClinVar, OMIM |
| Stargardt disease 4 (STGD4) | Missense mutations (e.g., p.Arg373Cys) impair protein trafficking and localization, leading to lipofuscin accumulation and macular degeneration. | ClinVar, OMIM |
| Colorectal cancer | PROM1/CD133 marks cancer stem cells; high expression correlates with tumor aggressiveness, chemoresistance, and metastasis. | COSMIC, PubMed (via NCBI) |
| Glioblastoma | CD133+ cells exhibit stem-like properties and resistance to therapy; PROM1 expression is a prognostic marker. | COSMIC, PubMed (via NCBI) |
| Hepatocellular carcinoma | PROM1 overexpression promotes tumor initiation and invasion, associated with poor survival. | COSMIC, PubMed (via NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.4 | Medium |
| Liver | 8.7 | Low |
| Brain | 6.2 | Low |
| Retina | High (RNA-seq) | High (specific) |
| Bone Marrow | Low (but stem cell subset high) | Low (overall) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HCT116 (colon cancer) | High | Cancer stem cell marker |
| U87MG (glioblastoma) | High | Stem-like population |
| HepG2 (liver cancer) | Medium | Tumor-initiating cells |
| MCF7 (breast cancer) | Low | Heterogeneous expression |
| CD34+ hematopoietic stem cells | High | Stem cell marker |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1871delC (p.Pro624LeufsTer18) | Frameshift | Rare | Loss of function; causes RP41 |
| c.1117C>T (p.Arg373Cys) | Missense | Rare | Impaired trafficking; causes STGD4 |
| c.1726C>T (p.Arg576Ter) | Nonsense | Rare | Loss of function; causes RP41 |
| c.2015G>A (p.Arg672His) | Missense | Rare | Uncertain; possibly pathogenic |
| c.1327C>T (p.Arg443Ter) | Nonsense | Rare | Loss of function; causes RP41 |
Mutation functional classification
Loss of Function (LOF)
Frameshift, nonsense, and splice-site mutations that truncate the protein or disrupt its membrane topology lead to loss of function, causing retinal degeneration.
Gain of Function (GOF)
No clear gain-of-function mutations reported; overexpression in cancer is due to transcriptional upregulation, not mutation.
Dominant Negative (DN)
Some missense mutations (e.g., p.Arg373Cys) may exert dominant-negative effects by interfering with wild-type protein trafficking, as seen in Stargardt disease.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway (via CD133 in cancer stem cells)
• Notch signaling pathway (in neural stem cells)
• PI3K/Akt signaling (in cancer stemness)
• Retinol metabolism (in photoreceptor function)
Protein Summary
Prominin-1 (CD133) is a 97 kDa glycoprotein with five transmembrane domains and two large extracellular loops. It is expressed on plasma membrane protrusions such as microvilli and primary cilia. In the retina, it is essential for the morphogenesis of photoreceptor outer segment disks. In stem cells, it maintains stemness and self-renewal. The protein undergoes glycosylation and can be cleaved, releasing soluble forms. It interacts with cholesterol-rich membrane microdomains and is involved in cell polarity and migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PROM1 Knockout HEK293 Cell Line | EDJ-KQ3179 | Human | 8842 | Details Get a Quote |
| PROM1 Knockout HCT 116 Cell Line | EDJ-KQ24606 | Human | 8842 | Details Get a Quote |
| PROM1 Knockout HeLa Cell Line | EDJ-KQ55020 | Human | 8842 | Details Get a Quote |
| PROM1 Knockout A-549 Cell Line | EDJ-KQ63503 | Human | 8842 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
