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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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PROM1
prominin 1
Chromosome 4 Β· 4p15.32
NCBI Gene: 8842Ensembl: ENSG00000007062.13HGNC: HGNC:9454UniProt: A0A0A0N0M1
631PubMed Papers
24Diseases
0Drugs
155Pathogenic Variants
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endoplasmic reticulumendoplasmic reticulum-Golgi intermediate compartmentplasma membranecell surfacecone-rod dystrophy 12retinal macular dystrophy type 2retinitis pigmentosa 41Stargardt disease 4
✦AI Summary

PROM1 (prominin 1) encodes a five-transmembrane domain glycoprotein that serves critical roles in stem cell biology, retinal development, and cellular homeostasis 1. The protein localizes to membrane protrusions and is widely recognized as a biomarker for cancer stem cells, including brain tumor-initiating cells where CD133+ populations demonstrate enhanced tumorigenicity and radioresistance 23. In retinal tissue, PROM1 undergoes tissue-specific alternative splicing with exon 4 inclusion crucial for photoreceptor development and maturation 4. Exon 4 skipping leads to decreased protein expression, cone photoreceptor defects, and abnormal cellular distribution, correlating with late-onset maculopathy 4. PROM1 also plays essential roles in retinal pigment epithelium (RPE) homeostasis, where knockdown results in abnormal RPE morphology, subretinal fluid accumulation, and secondary photoreceptor loss resembling atrophic AMD 5. The protein contributes to DNA damage response and repair mechanisms in glioma stem cells, conferring radioresistance that can be therapeutically targeted 3. Additionally, PROM1 participates in stem cell signaling networks, including a positive feedback loop with SOX9 in colorectal cancer that maintains stemness while blocking differentiation 6. Its expression patterns vary across cancers, with overexpression generally associated with poor prognosis 7.

Sources cited
1
PROM1 encodes a five-transmembrane domain glycoprotein and serves as a stem cell marker
PMID: 15694831
2
CD133+ brain tumor cells demonstrate enhanced tumorigenicity
PMID: 15549107
3
CD133+ glioma cells show radioresistance through enhanced DNA damage response
PMID: 17051156
4
Exon 4 alternative splicing is crucial for photoreceptor development and function
PMID: 39353897
5
PROM1 knockdown in RPE causes retinal degeneration resembling atrophic AMD
PMID: 39513868
6
PROM1 participates in SOX9 feedback loop maintaining stemness in colorectal cancer
PMID: 34571027
7
PROM1 overexpression is associated with poor prognosis in multiple cancer types
PMID: 31164716
Disease Associationsβ“˜24
cone-rod dystrophy 12Open Targets
0.75Strong
retinal macular dystrophy type 2Open Targets
0.73Strong
retinitis pigmentosa 41Open Targets
0.72Strong
Stargardt disease 4Open Targets
0.70Strong
Cone rod dystrophyOpen Targets
0.69Moderate
retinitis pigmentosaOpen Targets
0.68Moderate
cone-rod dystrophyOpen Targets
0.63Moderate
Stargardt diseaseOpen Targets
0.60Moderate
Retinal dystrophyOpen Targets
0.57Moderate
autosomal recessive retinitis pigmentosaOpen Targets
0.48Moderate
cone-rod dystrophy 2Open Targets
0.47Moderate
Macular dystrophyOpen Targets
0.45Moderate
Leber congenital amaurosisOpen Targets
0.43Moderate
Leber congenital amaurosis 1Open Targets
0.42Moderate
cone-rod dystrophy, dominantOpen Targets
0.41Moderate
macular dystrophy, retinalOpen Targets
0.41Moderate
Posterior column ataxia - retinitis pigmentosaOpen Targets
0.41Moderate
Rod-cone dystrophyOpen Targets
0.38Weak
heart failureOpen Targets
0.37Weak
eye diseaseOpen Targets
0.37Weak
Cone-rod dystrophy 12UniProt
Macular dystrophy, retinal, 2UniProt
Retinitis pigmentosa 41UniProt
Stargardt disease 4UniProt
Pathogenic Variants155
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)Pathogenic
Stargardt disease 4|Retinal macular dystrophy type 2|Cone-rod dystrophy 12|Retinal dystrophy|not provided|Macular dystrophy|Stargardt disease|Retinitis pigmentosa|Retinitis pigmentosa 41;Retinal macular dystrophy type 2;Cone-rod dystrophy 12;Stargardt disease 4|Retinal disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 373
NM_006017.3(PROM1):c.1301+2T>CPathogenic
Cone-rod dystrophy 12|not provided|Retinitis pigmentosa 41|Cone-rod dystrophy|Retinal dystrophy
β˜…β˜…β˜†β˜†2025
NM_006017.3(PROM1):c.45dup (p.Asn16fs)Pathogenic
Cone-rod dystrophy|Cone-rod dystrophy 12
β˜…β˜…β˜†β˜†2025β†’ Residue 16
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)Pathogenic
not provided|Retinal dystrophy|Cone-rod dystrophy 12|Retinitis pigmentosa 41|Autosomal recessive retinitis pigmentosa|PROM1-related disorder|Retinitis pigmentosa|Cone-rod dystrophy 2|Stargardt disease|Retinal disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 452
NM_006017.3(PROM1):c.2130+2delPathogenic
not provided|Autosomal recessive retinitis pigmentosa
β˜…β˜…β˜†β˜†2025
NM_006017.3(PROM1):c.784+1G>APathogenic
Retinitis pigmentosa 41|not provided|Retinal dystrophy|Stargardt disease|Leber congenital amaurosis
β˜…β˜…β˜†β˜†2025
NM_006017.3(PROM1):c.1984-1G>TPathogenic
Retinitis pigmentosa 41|not provided|Stargardt disease|Cone-rod dystrophy|Leber congenital amaurosis|PROM1-related disorder
β˜…β˜…β˜†β˜†2025
NM_006017.3(PROM1):c.1645_1648del (p.Lys549fs)Pathogenic
not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 549
NM_006017.3(PROM1):c.652C>T (p.Gln218Ter)Pathogenic
Retinitis pigmentosa 41|Cone-rod dystrophy 12|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 218
NM_006017.3(PROM1):c.436C>T (p.Arg146Ter)Pathogenic
Retinal dystrophy|Retinitis pigmentosa 41|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 146
NM_006017.3(PROM1):c.1142-1G>APathogenic
not provided|Retinal dystrophy|Cone-rod dystrophy 12|Retinal macular dystrophy type 2;Stargardt disease 4;Cone-rod dystrophy 12;Retinitis pigmentosa 41|Retinal macular dystrophy type 2
β˜…β˜…β˜†β˜†2025
NM_006017.3(PROM1):c.139del (p.His47fs)Pathogenic
Leber congenital amaurosis 1|not provided|Retinitis pigmentosa 41|Cone-rod dystrophy 12
β˜…β˜…β˜†β˜†2025β†’ Residue 47
NM_006017.3(PROM1):c.869del (p.Ser290fs)Pathogenic
Retinitis pigmentosa 41|not provided|Cone-rod dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 290
NM_006017.3(PROM1):c.2110C>T (p.Arg704Cys)Pathogenic
Retinitis pigmentosa|Retinal dystrophy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 704
NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter)Pathogenic
not provided|Retinal dystrophy|Cone-rod dystrophy 12|PROM1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 519
NM_006017.3(PROM1):c.622del (p.Thr208fs)Pathogenic
Retinitis pigmentosa 41|Retinal dystrophy|not provided|Cone-rod dystrophy 12;Retinal macular dystrophy type 2;Stargardt disease 4;Retinitis pigmentosa 41
β˜…β˜…β˜†β˜†2025β†’ Residue 208
NM_006017.3(PROM1):c.154del (p.Ile52fs)Pathogenic
Retinal macular dystrophy type 2;Retinitis pigmentosa 41;Cone-rod dystrophy 12;Stargardt disease 4|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 52
NM_006017.3(PROM1):c.1414C>T (p.Arg472Ter)Pathogenic
Retinal dystrophy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 472
NM_006017.3(PROM1):c.303+1G>APathogenic
not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2025
NM_006017.3(PROM1):c.730C>T (p.Arg244Ter)Pathogenic
Retinal dystrophy|not provided|Cone-rod dystrophy 12
β˜…β˜…β˜†β˜†2025β†’ Residue 244
View on ClinVar β†—
Related Genes
EGFRProtein interaction100%CD44Protein interaction99%ERBB2Protein interaction97%CTNNB1Protein interaction95%KITLGProtein interaction93%FGF2Protein interaction92%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
73%
Heart
31%
Liver
9%
Lung
2%
Ovary
0%
Gene Interaction Network
Click a node to explore
PROM1EGFRCD44ERBB2CTNNB1KITLGFGF2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O43490
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.10LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.92 [0.78–1.10]
RankingsWhere PROM1 stands among ~20K protein-coding genes
  • #359of 20,598
    Most Researched631 Β· top 5%
  • #488of 5,498
    Most Pathogenic Variants155 Β· top 10%
  • #11,288of 17,882
    Most Constrained (LOEUF)1.10
Genes detectedPROM1
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Identification of human brain tumour initiating cells.
PMID: 15549107
Nature Β· 2004
1.00
2
An Enhancer-Driven Stem Cell-Like Program Mediated by SOX9 Blocks Intestinal Differentiation in Colorectal Cancer.
PMID: 34571027
Gastroenterology Β· 2022
0.90
3
Deep phenotyping of PROM1-associated retinal degeneration.
PMID: 37080590
Br J Ophthalmol Β· 2024
0.84
4
Deciphering the impact of PROM1 alternative splicing on human photoreceptor development and maturation.
PMID: 39353897
Cell Death Dis Β· 2024
0.80
5
Genetic and clinical characteristics of PROM1-related retinal degeneration in Korean.
PMID: 38072963
Sci Rep Β· 2023
0.78