PROM1
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.
Alternative Names
RP41; AC133; CD133; MCDR2; STGD4; CORD12; PROML1; MSTP061
Function
May play a role in cell differentiation, proliferation and apoptosis (PubMed:24556617).
Binds cholesterol in cholesterol-containing plasma membrane microdomains and may play a role in the organization of the apical plasma membrane in epithelial cells. During early retinal development acts as a key regulator of disk morphogenesis. Involved in regulation of MAPK and Akt signaling pathways. In neuroblastoma cells suppresses cell differentiation such as neurite outgrowth in a RET-dependent manner (PubMed:20818439).
Biological Process
Camera-type eye photoreceptor cell differentiationManual Assertion Based On ExperimentIMP:BHF-UCL
Glomerular parietal epithelial cell differentiationManual Assertion Based On ExperimentIMP:UniProtKB
Photoreceptor cell maintenanceManual Assertion Based On ExperimentIMP:BHF-UCL
Podocyte differentiationManual Assertion Based On ExperimentIMP:UniProtKB
Positive regulation of nephron tubule epithelial cell differentiationManual Assertion Based On ExperimentIMP:UniProtKB
Retina layer formationISS:UniProtKB
Retina morphogenesis in camera-type eyeManual Assertion Based On ExperimentIMP:BHF-UCL
Cellular Location
Apical cell membrane
Cell projection, microvillus membrane
Cell projection, cilium, photoreceptor outer segment
Endoplasmic reticulum
Endoplasmic reticulum-Golgi intermediate compartment
Found in extracellular membrane particles in various body fluids such as cerebrospinal fluid, saliva, seminal fluid and urine.
Involvement in disease
Retinitis pigmentosa 41 (RP41):
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Cone-rod dystrophy 12 (CORD12):
An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.
Stargardt disease 4 (STGD4):
A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina.
Retinal macular dystrophy 2 (MCDR2):
A bull's-eye macular dystrophy characterized by bilateral annular atrophy of retinal pigment epithelium at the macula.
Topology
Extracellular: 20-108
Helical: 109-129
Cytoplasmic: 130-157
Helical: 158-178
Extracellular: 179-433
Helical: 434-454
Cytoplasmic: 455-486
Helical: 487-507
Extracellular: 508-792
Helical: 793-813
Cytoplasmic: 814-865
PTM
Isoform 1 and isoform 2 are glycosylated.
Acetylation at Lys-225, Lys-257 and Lys-264 by NAT8 and NAT8B may control PROM1 protein expression and its function in cell apoptosis.
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Datasheet