AlphaFold predicted structure
PROM1 · O43490
Mean pLDDT
85.5/ 100
Confident
865 residues
Confidence breakdown
- Very high(≥ 90)59%
- Confident(70–90)31%
- Low(50–70)2%
- Very low(< 50)8%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
PROM1
Chr 4p15.32prominin 1
- Aliases:
- AC133, CD133, RP41, CORD12
- MANE:
- ENST00000447510.7
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Retinal disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalCOVID-19 research
Glaucoma (developmental)
Limb disorders
UnknownStructural eye disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disease associations (Open Targets)
cone-rod dystrophy 12
0.75retinal macular dystrophy type 2
0.73retinitis pigmentosa 41
0.72Stargardt disease 4
0.71retinitis pigmentosa
0.70Cone rod dystrophy
0.69Stargardt disease
0.64cone-rod dystrophy
0.63Retinal dystrophy
0.57cone-rod dystrophy 2
0.48
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Prominin-1
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)
Diseases associated with PROM1
Curated MONDO disease pages that list PROM1 among their top associated genes.