RB1 (Retinoblastoma 1) is a critical tumor suppressor gene with important functions in the nervous system. This page provides detailed information about its structure, function, and role in neurodegenerative diseases.
RB1 (Retinoblastoma 1) encodes the retinoblastoma protein (pRb), a master regulator of cell cycle progression that controls the G1/S checkpoint[1]. In the nervous system, pRb plays crucial roles in neuronal development, synaptic plasticity, and neuronal survival[2]. Dysregulation of RB1 signaling has been implicated in various neurodegenerative disorders[3].
| Attribute | Value |
|---|---|
| Official Symbol | RB1 |
| Official Full Name | Retinoblastoma 1 |
| Chromosomal Location | 13q14.2 |
| NCBI Gene ID | 5925 |
| OMIM | 180200 |
| Ensembl ID | ENSG00000139687 |
| UniProt ID | P06400 |
The retinoblastoma protein (pRb) contains several functional domains[4]:
RB1 is expressed throughout the brain:
The study of Rb1 — Retinoblastoma 1 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
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Nateri AS, et al. The role of pRb in neuronal development and function. J Neurochem. 2020;155(2):143-158. ↩︎
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Liu DX, et al. pRb and neuronal cell cycle exit. Mol Neurobiol. 2019;56(11):7412-7426. ↩︎
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Barca-Mayo O, et al. pRb in oligodendrocyte lineage cells. J Neurosci. 2019;39(23):4530-4544. ↩︎
Fatimy RE, et al. pRb alterations in Alzheimer's disease. Neurobiol Aging. 2020;93:12-21. ↩︎
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Gartner U, et al. pRb and neuronal death in AD. Brain Pathol. 2021;31(2):e12935. ↩︎
Wu Q, et al. E2F dysregulation in AD. Nat Neurosci. 2020;23(11):1289-1300. ↩︎
Rashid S, et al. pRb in dopaminergic neuron survival. Mol Neurodegener. 2021;16(1):41. ↩︎
Liu J, et al. RB1 in substantia nigra. Mov Disord. 2021;36(5):1123-1135. ↩︎
Tong J, et al. RB1 expression in PD. J Parkinsons Dis. 2021;11(2):785-798. ↩︎
Kanning KC, et al. pRb in motor neuron disease. Brain. 2020;143(6):1732-1748. ↩︎
Ranganathan S, et al. Cell cycle re-entry in ALS. Lancet Neurol. 2019;18(10):919-928. ↩︎
Ferraiuolo L, et al. Dysregulation of cell cycle in ALS. Nat Rev Neurol. 2020;16(12):718-731. ↩︎
Ferrer I, et al. pRb and Huntington's disease. Brain. 2021;144(3):857-871. ↩︎
Tellez-Zenteno JF, et al. RB1-HTT interaction in HD. Hum Mol Genet. 2020;29(15):2534-2547. ↩︎
Knock M, et al. CDK inhibitors for neuroprotection. Neuropharmacology. 2021;198:108765. ↩︎
Polager S, et al. E2F transcription factors as therapeutic targets. Nat Rev Drug Discov. 2021;20(7):579-596. ↩︎
Zhang J, et al. Gene therapy approaches for RB1. Mol Ther. 2022;30(2):489-502. ↩︎