PROM1 - prominin 1 Gene
Also Known as RP41; AC133; CD133; MCDR2; STGD4; CORD12; PROML1; MSTP061
Species: Homo sapiens
About PROM1
This gene has 22 transcripts (splice variants), 277 orthologues, 1 paralogue and is associated with 10 phenotypes. Broad expression in gall bladder (RPKM 15.7), stomach (RPKM 10.2) and 18 other tissues.
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]
PROM1 Products (10)
| mRNA | Protein | Name |
|---|---|---|
| NM_001145847.2 | NP_001139319.1 | prominin-1 isoform 2 precursor |
| NM_001145848.2 | NP_001139320.1 | prominin-1 isoform 2 precursor |
| NM_001145849.2 | NP_001139321.1 | prominin-1 isoform 7 precursor |
| NM_001145850.2 | NP_001139322.1 | prominin-1 isoform 6 precursor |
| NM_001145851.2 | NP_001139323.1 | prominin-1 isoform 5 precursor |
| NM_001145852.2 | NP_001139324.1 | prominin-1 isoform 4 precursor |
| NM_001371406.1 | NP_001358335.1 | prominin-1 isoform 2 precursor |
| NM_001371407.1 | NP_001358336.1 | prominin-1 isoform 4 precursor |
| NM_001371408.1 | NP_001358337.1 | prominin-1 isoform 4 precursor |
| NM_006017.3 | NP_006008.1 | prominin-1 isoform 1 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables actinin binding |
IDA
IDA: Inferred from direct assay
|
18654668 | GOA |
| enables cadherin binding |
IPI
IPI: Inferred from physical interaction
|
18654668 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
18654668 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in camera-type eye photoreceptor cell differentiation |
IMP
IMP: Inferred from mutant phenotype
|
18654668 | GOA |
| involved in glomerular parietal epithelial cell differentiation |
IMP
IMP: Inferred from mutant phenotype
|
19092120 | GOA |
| involved in photoreceptor cell maintenance |
IMP
IMP: Inferred from mutant phenotype
|
18654668 | GOA |
| involved in podocyte differentiation |
IMP
IMP: Inferred from mutant phenotype
|
19092120 | GOA |
| involved in positive regulation of nephron tubule epithelial cell differentiation |
IMP
IMP: Inferred from mutant phenotype
|
16885410 | GOA |
| involved in retina morphogenesis in camera-type eye |
IMP
IMP: Inferred from mutant phenotype
|
18654668 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cell surface |
IDA
IDA: Inferred from direct assay
|
16809613 | GOA |
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
24556617 | GOA |
| located in endoplasmic reticulum-Golgi intermediate compartment |
IDA
IDA: Inferred from direct assay
|
24556617 | GOA |
| located in extracellular exosome |
IDA
IDA: Inferred from direct assay
|
21082674 | GOA |
| located in photoreceptor outer segment membrane |
IDA
IDA: Inferred from direct assay
|
18654668 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
12042327 | GOA |
PROM1 Protein Structure
Prominin: Prominin (12 - 829)
- 0
- 200
- 400
- 600
- 800
- 865 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
prominin-1 |
|
PROM1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
PROM1 | O43490 | HDAC6 | Homo sapiens | Q9UBN7 | 23084749 | |
|
Intra
|
PROM1 | O43490 | HDAC6 | Homo sapiens | Q9UBN7 | 23084749 |
Recombinant PROM1 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P78732 | CD133/PROM1 Protein-VLP, Human (HEK293, His) | O43490 (G20-H865) | Purity analysis by SDS-PAGE is not available for VLP proteins. |
PROM1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80054 | CD133 Antibody (YA808) | WB, IHC-P, FC | Human |
| HY-P80594 | CD133 Antibody (YA809) | WB | Human |
| HY-P80594A | CD133 Antibody (YA809)(PBS only) | WB | Human |
| HY-P83841 | CD133 Antibody (YA3538) | FC, ELISA | Human |
| HY-P83841A | CD133 Antibody (YA3538)(PBS only) | FC, ELISA | Human |
| HY-P85586 | CD133 Antibody (YA5278) | WB | Human |
| HY-P86623 | CD133 Antibody (YA6315) | WB, IHC-P, ICC/IF, IP, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Macular Dystrophy, Retinal, 2 |
|
|
| Cone-Rod Dystrophy 12 |
|
|
| Stargardt Disease 4 |
|
|
| Retinitis Pigmentosa 41 |
|
|
| Stargardt Disease |
|
|
| Cone-Rod Dystrophy 2 |
|
|
| Leber Congenital Amaurosis 1 |
|
|
| Isolated Macular Dystrophy |
|
|
| Retinitis Pigmentosa |
|
|
| Stargardt Disease 1 |
|
|
| Usher Syndrome |
|
|
| Leber Plus Disease |
|
|
| Fundus Dystrophy |
|
|
| Retinal Degeneration |
|
|
| Teratoma |
|
|
| Acute Leukemia |
|
|
| Neuroblastoma |
|
|
| Retinoblastoma |
|
|
| Hemangioblastoma |
|
|
| Bile Duct Cancer |
|
|
| Inflammatory Bowel Disease 30 |
|
|
| Childhood Infratentorial Neoplasm |
|
|
| Hemangioma |
|
|
| Gastric Adenosquamous Carcinoma |
|
|
| Buerger Disease |
|
|
| Hepatoblastoma |
|
|
| Infratentorial Cancer |
|
|
| Limb Ischemia |
|
|
| Medulloblastoma |
|
|
| Capillary Hemangioma |
|
|
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
|
| Prostate Cancer |
|
|
| Lung Cancer |
|
|
| Leukemia, Acute Lymphoblastic |
|
|
| Rhabdomyosarcoma |
|
|
| Tibial Nerve Palsy |
|
|
| Laryngeal Benign Neoplasm |
|
|
| Muscular Dystrophy |
|
|
| Ovarian Cancer |
|
|
| Colorectal Cancer |
|
|
| Gastric Cancer |
|
|
| Hepatocellular Carcinoma |
|
|
| Brain Glioma |
|
|
| Colorectal Cancer, Hereditary Nonpolyposis, Type 8 |
|
|
| Glioblastoma Classical Subtype |
|
|
| Malignant Astrocytoma |
|
|
| Esophageal Cancer |
|
|
| Gliosarcoma |
|
|
| Severe Combined Immunodeficiency |
|
|
| Colonic Benign Neoplasm |
|
|
| Leukemia, Acute Myeloid |
|
|
| Connective Tissue Disease |
|
|
| Nervous System Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | PROM1 | RGD | RGD:69367 |
| Canis familiaris | PROM1 | VGNC | VGNC:45012 |
| Bos taurus | PROM1 | VGNC | VGNC:33364 |
| Macaca mulatta | PROM1 | VGNC | VGNC:76425 |
| Felis catus | PROM1 | VGNC | VGNC:69079 |
| Mus musculus | PROM1 | MGD | MGI:1100886 |
| Others | PROM1 | NCBI |