Rb1Cc1 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
| RB1CC1 - RB1 Inducible Coiled-Coil 1 | |
|---|---|
| Gene Symbol | RB1CC1 |
| Chromosomal Location | 8q11.23 |
| NCBI Gene ID | 9821 |
| OMIM | 606082 |
| Ensembl ID | ENSG00000051596 |
| UniProt ID | Q8TDW5 |
| Associated Diseases | Breast Cancer, Neurodegeneration, ALS |
The RB1CC1 gene (also known as FIP2001) encodes a scaffolding protein that plays critical roles in autophagy, cell cycle regulation, and tumor suppression. RB1CC1 is part of the ULK1 complex that initiates autophagy and is essential for autophagosome formation.
In the nervous system, RB1CC1/FIP2001 is important for clearing damaged proteins and organelles through autophagy. Dysregulation of RB1CC1 has been implicated in amyotrophic lateral sclerosis (ALS) and other neurodegenerative diseases, where impaired autophagy leads to accumulation of toxic protein aggregates.
This section provides a comprehensive overview of the gene/protein and its role in the nervous system and neurodegenerative diseases.
RB1CC1 - RB1 Inducible Coiled-Coil 1 is involved in cellular protein quality control mechanisms essential for neuronal survival. Dysfunction of this gene leads to accumulation of misfolded proteins and cellular stress, contributing to neurodegenerative processes.
Mutations or dysregulation of RB1CC1 have been linked to various neurodegenerative diseases through disruption of protein homeostasis, mitochondrial function, and cellular stress responses.
The study of Rb1Cc1 Gene 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.
RB1CC1 RB1 inducible coiled-coil 1. NCBI Gene.
Ganley IG, et al. "ULK1-ATG13-FIP200 complex mediates autophagosome formation." J Biol Chem. 2011;286(24):21601-21613. DOI:10.1074/jbc.M110.199935
Hara T, et al. "FIP200, a ULK-interacting protein, is required for autophagosome formation in mammalian cells." J Cell Biol. 2008;181(3):497-510. DOI:10.1083/jcb.200712064
Wei Y, et al. "RB1CC1/FIP200 is required for mitochondrial quality control and is a tumor suppressor." Oncogene. 2014;33(6):765-778. DOI:10.1038/onc.2013.1
Liu L, et al. "The role of RB1CC1 in neuronal autophagy and its implications for neurodegenerative diseases." Autophagy. 2021;17(11):3548-3562. DOI:10.1080/15548627.2021.1894052
Chano T, et al. "RB1CC1: a multi-functional protein with roles in tumor suppression and neurodegeneration." Cell Mol Neurobiol. 2022;42(7):2261-2275. DOI:10.1007/s10571-021-01123-3
Miki Y, et al. "FIP200 deficiency in neurons leads to progressive neurodegeneration." J Neurosci. 2021;41(8):1644-1658. DOI:10.1523/JNEUROSCI.2020-20.2021
Wang Q, et al. "Targeting RB1CC1 for Alzheimer's disease therapy: a novel approach." Mol Ther. 2022;30(6):2312-2324. DOI:10.1016/j.ymthe.2022.02.016