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Target intelligence / Profile preview
RCC1 and BTB domain-containing protein 1 (RCBTB1)
- Target
- RCBTB1
- Molecular classification
- Other (contains RCC1 domain and BTB/POZ domain; not a typical receptor, enzyme, channel, transporter, or transcription factor)
01
Overview
RCC1 and BTB domain-containing protein 1 (RCBTB1) is a ubiquitously expressed, cytoplasmic protein characterized by an N-terminal RCC1 (Regulator of Chromosome Condensation 1) domain and a C-terminal BTB (Broad-complex, Tramtrack and Bric-à-brac) domain. It may play roles in cell cycle regulation through chromatin remodeling and in protein ubiquitination as a substrate adaptor within the CUL3 ubiquitin ligase complex, influencing the oxidative stress response via the NFE2L2 (NRF2) pathway. Mutations in RCBTB1 are causative for inherited retinal dystrophies (both syndromic and non-syndromic), sometimes associated with features such as goiter, ovarian insufficiency, and mild intellectual disability. RCBTB1 was originally identified due to its location in a chromosomal region frequently deleted in B-cell chronic lymphocytic leukemia. There are currently no approved drugs or established direct therapeutic interventions targeting RCBTB1.
- Other names
- Chronic lymphocytic leukemia deletion region gene 7 proteinCLLD7CLLL7Regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1GDP/GTP exchange factor (GEF)-like proteinGLPRDEOAFLJ10716
02
Mechanism of action
None known (no drugs currently target RCBTB1)
03
Biological functions
Chromatin remodeling/cell cycle regulationUbiquitin ligase substrate adaptor (CUL3 complex)Protein ubiquitinationStress response regulation (NFE2L2/NRF2 pathway)
04
Disease associations
Retinal dystrophyPrimary ovarian insufficiencyGoiterChronic lymphocytic leukemia (candidate gene/deletion region)Intellectual disability (syndromic associations)Coats disease/Exudative vitreoretinopathy (molecular associations in some families)
05
Biomarkers
None established for clinical use (mutational status in syndromic and non-syndromic inherited retinal dystrophy; research only)
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