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Kelch repeat and BTB domain-containing protein 8 (KBTBD8)
- Target
- KBTBD8
- Molecular classification
- Adapter of E3 ubiquitin ligase complex (Kelch-BTB protein family), Other (not an enzyme, receptor, ion channel, transporter, or transcription factor)
01
Overview
Kelch repeat and BTB domain-containing protein 8 (KBTBD8) is a member of the BTB-kelch protein family that functions as a substrate-specific adaptor for cullin-3 (CUL3) E3 ubiquitin ligase complexes[3][5]. It mediates monoubiquitination of key substrate proteins (notably NOLC1 and TCOF1), thereby modulating ribosomal processing and translational activity fundamental for neural crest specification during embryonic development[2][3][5]. KBTBD8 also plays an essential regulatory role in female gametogenesis, localizing to the Golgi apparatus and spindle apparatus in oocytes, and ensuring oocyte quality by controlling energy metabolism through regulation of PKM1 levels via Erk1/2 and Aurora A signaling[1][4]. Dysregulation of KBTBD8 is implicated in neural crest cell disorders such as Treacher Collins syndrome and in female infertility. No approved drugs directly target KBTBD8, nor is it currently used as a clinical biomarker.
- Other names
- KBTBD8KIAA1842TA-KRPTAKRPT-cell activation kelch repeat proteinkelch repeat and BTB (POZ) domain containing 8kelch repeat and BTB domain-containing protein 8
02
Mechanism of action
No drugs; mechanistically, KBTBD8 acts as E3 ligase substrate adaptor for monoubiquitination of select proteins such as NOLC1 and TCOF1.
03
Biological functions
Neural crest specificationRegulation of protein monoubiquitinationModulation of oocyte meiosis and energy metabolism via PKM1 regulationParticipates in ribosomal processing/translational control during embryogenesis
04
Disease associations
Neural crest developmental disorders (e.g., Treacher Collins syndrome 1)Female fertility/infertilityNull (no direct links to cancer, inflammation, neurodegenerative disease, etc. as primary role)
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