Prominin 1 (PROM1) Associated conditions: 1. Usher syndrome 2. Retinitis pigmentosa 3. Leber congenital amaurosis 4. Stargardt disease
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001441173.1 | NP_001428102.1 | NC_000004.12 | (15968227..16084022, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NR_199807.1 | - | NC_000004.12 | (15968227..16084022, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NR_199806.1 | - | NC_000004.12 | (15968227..16084022, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 4 | REVIEWED | NM_006017.3 | NP_006008.1 | NC_000004.12 | (15968227..16084022, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 5 | REVIEWED | NM_001441179.1 | NP_001428108.1 | NC_000004.12 | (15968227..16084022, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 6 | REVIEWED | NM_001441178.1 | NP_001428107.1 | NC_000004.12 | (15968227..16084022, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 7 | REVIEWED | NM_001441177.1 | NP_001428106.1 | NC_000004.12 | (15968227..16084022, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 8 | REVIEWED | NM_001441176.1 | NP_001428105.1 | NC_000004.12 | (15968227..16084022, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 9 | REVIEWED | NM_001441175.1 | NP_001428104.1 | NC_000004.12 | (15968227..16084022, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 10 | REVIEWED | NM_001441174.1 | NP_001428103.1 | NC_000004.12 | (15968227..16084022, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 11 | REVIEWED | NM_001145847.2 | NP_001139319.1 | NC_000004.12 | (15968227..16084022, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 12 | REVIEWED | NM_001371408.1 | NP_001358337.1 | NC_000004.12 | (15968227..16084022, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 13 | REVIEWED | NM_001371407.1 | NP_001358336.1 | NC_000004.12 | (15968227..16084022, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 14 | REVIEWED | NM_001371406.1 | NP_001358335.1 | NC_000004.12 | (15968227..16084022, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 15 | REVIEWED | NM_001145852.2 | NP_001139324.1 | NC_000004.12 | (15968227..16084022, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 16 | REVIEWED | NM_001145851.2 | NP_001139323.1 | NC_000004.12 | (15968227..16084022, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 17 | REVIEWED | NM_001145850.2 | NP_001139322.1 | NC_000004.12 | (15968227..16084022, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 18 | REVIEWED | NM_001145849.2 | NP_001139321.1 | NC_000004.12 | (15968227..16084022, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 19 | REVIEWED | NM_001145848.2 | NP_001139320.1 | NC_000004.12 | (15968227..16084022, complement) | Reference GRCh38.p14 Primary Assembly | - |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Prominin 1 (PROM1) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Prominin 1 (PROM1)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IEA | located_in | photoreceptor outer segment | Component | - |
| 2 | Homo sapiens | ISS | located_in | photoreceptor outer segment | Component | - |
| 3 | Homo sapiens | IPI | enables | protein binding | Function | 18654668 23084749 24556617 |
| 4 | Homo sapiens | HDA | located_in | extracellular space | Component | 16502470 |
| 5 | Homo sapiens | IDA | located_in | endoplasmic reticulum | Component | 24556617 |
| 6 | Homo sapiens | IEA | located_in | endoplasmic reticulum | Component | - |
| 7 | Homo sapiens | IDA | located_in | endoplasmic reticulum-Golgi intermediate compartment | Component | 24556617 |
| 8 | Homo sapiens | IEA | located_in | endoplasmic reticulum-Golgi intermediate compartment | Component | - |
| 9 | Homo sapiens | IDA | located_in | plasma membrane | Component | 12042327 24556617 |
| 10 | Homo sapiens | TAS | located_in | plasma membrane | Component | 9389720 |
| 11 | Homo sapiens | IBA | is_active_in | microvillus | Component | - |
| 12 | Homo sapiens | IBA | is_active_in | cilium | Component | - |
| 13 | Homo sapiens | IDA | located_in | cell surface | Component | 16809613 19384922 |
| 14 | Homo sapiens | ISS | involved_in | retina layer formation | Process | - |
| 15 | Homo sapiens | IEA | located_in | membrane | Component | - |
| 16 | Homo sapiens | IBA | is_active_in | apical plasma membrane | Component | - |
| 17 | Homo sapiens | IEA | located_in | apical plasma membrane | Component | - |
| 18 | Homo sapiens | IEA | located_in | microvillus membrane | Component | - |
| 19 | Homo sapiens | HDA | located_in | vesicle | Component | 19190083 |
| 20 | Homo sapiens | IBA | involved_in | microvillus organization | Process | - |
| 21 | Homo sapiens | IDA | located_in | photoreceptor outer segment membrane | Component | 18654668 |
| 22 | Homo sapiens | IDA | enables | actinin binding | Function | 18654668 |
| 23 | Homo sapiens | IPI | enables | cadherin binding | Function | 18654668 |
| 24 | Homo sapiens | IMP | involved_in | photoreceptor cell maintenance | Process | 18654668 |
| 25 | Homo sapiens | IMP | involved_in | retina morphogenesis in camera-type eye | Process | 18654668 |
| 26 | Homo sapiens | IBA | involved_in | camera-type eye photoreceptor cell differentiation | Process | - |
| 27 | Homo sapiens | IMP | involved_in | camera-type eye photoreceptor cell differentiation | Process | 18654668 |
| 28 | Homo sapiens | ISS | involved_in | camera-type eye photoreceptor cell differentiation | Process | - |
| 29 | Homo sapiens | HDA | located_in | extracellular exosome | Component | 19056867 19199708 23533145 |
| 30 | Homo sapiens | IDA | located_in | extracellular exosome | Component | 21082674 |
| 31 | Homo sapiens | IBA | is_active_in | prominosome | Component | - |
| 32 | Homo sapiens | IMP | involved_in | podocyte differentiation | Process | 19092120 |
| 33 | Homo sapiens | IMP | involved_in | glomerular parietal epithelial cell differentiation | Process | 19092120 |
| 34 | Homo sapiens | IMP | involved_in | positive regulation of nephron tubule epithelial cell differentiation | Process | 16885410 |