LRR1
Description
The LRR1 (leucine rich repeat protein 1) is a protein-coding gene located on chromosome 14.
LRR1 acts as a substrate recognition subunit within an E3 ubiquitin ligase complex known as ECS (Elongin BC-CUL2/5-SOCS-box protein). This complex is responsible for tagging target proteins with ubiquitin, marking them for degradation by the proteasome. LRR1 specifically targets MCM7, a protein involved in DNA replication, and promotes the disassembly of the CMG replisome, a key structure in DNA replication. This process is thought to contribute to the extraction of chromatin during the S-phase of the cell cycle. LRR1 is also believed to negatively regulate the signaling pathway initiated by the 4-1BB receptor, which leads to the activation of NF-κB and JNK1, both important transcription factors involved in immune responses.
LRR1 is also known as 4-1BBLRR, LRR-1, PPIL5.
Associated Diseases
- X-linked dystonia-parkinsonism
- spinocerebellar ataxia type 15/16
- X-linked parkinsonism-spasticity syndrome
- spinocerebellar ataxia type 20
- torsion dystonia 2
- isolated dystonia
