PROM1 Gene Summary [Human]
This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | PROM1 |
| Official Name | prominin 1 [Source:HGNC Symbol;Acc:HGNC:9454] |
| Ensembl ID | ENSG00000007062 |
| Bio databases IDs | |
| Aliases | prominin 1 |
| Synonyms | 4932416E19Rik, AC133, Antigen AC133, CD133, CORD12, MCDR2, MSTP061, NEURAL precursor CELL EXPRESSED, PROM, Prominin, prominin 1, PROML1, RP41, STGD4 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PROM1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Prominin
- cytoplasmic domain
- actinin binding
- cadherin binding
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-small cell lung cancer
- cancer
- atopic dermatitis
- retinal dystrophy
- epithelial thyroid cancer
- retinitis pigmentosa
- infection
- cone-rod dystrophy type 12
- acute myeloid leukemia
- retinitis pigmentosa type 41
role in cell
- expression in
- phosphorylation in
- migration
- proliferation
- differentiation
- survival
- abnormal morphology
- cell cycle progression
- regrowth
- self-renewal
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- extracellular vesicles
- Cytoplasm
- cilia
- cell surface
- Extracellular Space
- intracellular space
- cellular membrane
- Endoplasmic Reticulum
- cell-cell contacts
- ER-to-Golgi intermediate compartment
- stereocilia
- apical cell surfaces
- apical membrane
- plasma membrane projections
- microvilli tips
- basolateral membrane
- photoreceptor outer segments
- brush border
- cellular protrusions
- microvilli
- rod outer segments
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PROM1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of nephron tubule epithelial cell differentiation
- retina morphogenesis in camera-type eye
- glomerular visceral epithelial cell differentiation
- photoreceptor cell maintenance
- retina layer formation
- glomerular parietal epithelial cell differentiation
- camera-type eye photoreceptor cell differentiation
Cellular Component
Where in the cell the gene product is active
- prominosome
- endoplasmic reticulum
- endoplasmic reticulum-Golgi intermediate compartment
- photoreceptor outer segment membrane
- plasma membrane
- photoreceptor outer segment
- cell surface
- microvillus membrane
- extracellular space
- extracellular vesicular exosome
- microvillus
- cilium
- vesicle
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- cholesterol binding
- actinin binding
- cadherin binding