KBTBD8
Kelch Repeat and BTB Domain Containing 8
Gene Information Card
| Symbol | KBTBD8 |
|---|---|
| Full Name | Kelch Repeat and BTB Domain Containing 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 84541 ncbi.nlm.nih.gov/gene/84541 |
| Ensembl ID | ENSG00000163636 |
| UniProt ID | Q8NFY9 |
| OMIM ID | 615897 |
| HGNC ID | 25105 |
| Aliases | KIAA1842, FLJ32709 |
Description
KBTBD8 encodes a protein containing a BTB (broad-complex, tramtrack, and bric-a-brac) domain and multiple kelch repeats. It functions as a substrate adaptor for CUL3-based E3 ubiquitin ligase complexes, targeting proteins for ubiquitination and proteasomal degradation. KBTBD8 is involved in ciliogenesis, cell cycle regulation, and neurodevelopment. Mutations in KBTBD8 have been associated with neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Loss-of-function mutations impair ubiquitination of ciliary proteins, disrupting ciliogenesis | PMID: 31006510 |
| Autism spectrum disorder | Rare variants may alter synaptic protein turnover | ClinVar SCV000804123 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Kidney | 6.1 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Moderate expression |
| SH-SY5Y | 18.2 | Neuronal model |
| HeLa | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1282C>T (p.Arg428*) | Nonsense | Rare | Loss of function; truncation of kelch domain |
| c.1670G>A (p.Arg557Gln) | Missense | Rare | Impaired substrate binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, disrupting CUL3 interaction and ubiquitination activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity | • protein ubiquitination |
| • ciliary basal body | • cell cycle |
| • neurogenesis |
Pathways
• CUL3-RING ubiquitin ligase complex
• Ciliogenesis
Protein Summary
The KBTBD8 protein (UniProt Q8NFY9) is 627 amino acids long and contains an N-terminal BTB domain and six C-terminal kelch repeats. It assembles with CUL3 and RBX1 to form an E3 ubiquitin ligase complex that ubiquitinates substrates such as the ciliary protein CEP290, regulating cilia assembly and neuronal development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KBTBD8 Knockout HEK293 Cell Line | EDJ-KQ2243 | Human | 84541 | Details Get a Quote |
| KBTBD8 Knockout A-549 Cell Line | EDJ-KQ22537 | Human | 84541 | Details Get a Quote |
| KBTBD8 Knockout HCT 116 Cell Line | EDJ-KQ22538 | Human | 84541 | Details Get a Quote |
| KBTBD8 Knockout HeLa Cell Line | EDJ-KQ22539 | Human | 84541 | Details Get a Quote |
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