PROM1
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| prominin 1 | MIM:604365 | Ensembl:ENSG00000007062 | HGNC:HGNC:9454 | PA33807 | 4p15.32 |
GO terms in PROM1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0015485 | cholesterol binding |
| MF | IDA | GO:0042805 | actinin binding |
| MF | IPI | GO:0045296 | cadherin binding |
| CC | ISS | GO:0001750 | photoreceptor outer segment |
| CC | HDA | GO:0005615 | extracellular space |
| CC | IDA | GO:0005783 | endoplasmic reticulum |
| CC | IDA | GO:0005793 | endoplasmic reticulum-Golgi intermediate compartment |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | IBA | GO:0005887 | integral component of plasma membrane |
| CC | TAS | GO:0005887 | integral component of plasma membrane |
| CC | IBA | GO:0005902 | microvillus |
| CC | IBA | GO:0005929 | cilium |
| CC | IBA | GO:0009986 | cell surface |
| CC | IDA | GO:0009986 | cell surface |
| CC | IBA | GO:0016324 | apical plasma membrane |
| CC | IEA | GO:0016324 | apical plasma membrane |
| CC | IEA | GO:0031528 | microvillus membrane |
| CC | HDA | GO:0031982 | vesicle |
| CC | IDA | GO:0042622 | photoreceptor outer segment membrane |
| CC | HDA | GO:0070062 | extracellular exosome |
| CC | IDA | GO:0070062 | extracellular exosome |
| CC | IBA | GO:0071914 | prominosome |
| BP | ISS | GO:0010842 | retina layer formation |
| BP | IBA | GO:0045494 | photoreceptor cell maintenance |
| BP | IMP | GO:0045494 | photoreceptor cell maintenance |
| BP | IMP | GO:0060042 | retina morphogenesis in camera-type eye |
| BP | IBA | GO:0060219 | camera-type eye photoreceptor cell differentiation |
| BP | IMP | GO:0060219 | camera-type eye photoreceptor cell differentiation |
| BP | ISS | GO:0060219 | camera-type eye photoreceptor cell differentiation |
| BP | IMP | GO:0072112 | glomerular visceral epithelial cell differentiation |
| BP | IMP | GO:0072139 | glomerular parietal epithelial cell differentiation |
| BP | IMP | GO:2000768 | positive regulation of nephron tubule epithelial cell differentiation |
Gene expression in normal tissue: PROM1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PROM1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2870 | Extracellular vesicle-mediated signaling in recipient cells |
| kegg | hsa05202 | Transcriptional misregulation in cancer - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PROM1
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