KBTBD6
Kelch Repeat and BTB Domain Containing 6
Gene Information Card
| Symbol | KBTBD6 |
|---|---|
| Full Name | Kelch Repeat and BTB Domain Containing 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q14.11 |
| NCBI Gene ID | 89890 ncbi.nlm.nih.gov/gene/89890 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 615657 |
| HGNC ID | 25190 |
| Aliases | FLJ20297, MGC13170 |
Description
KBTBD6 encodes a protein containing a BTB (Broad-Complex, Tramtrack, and Bric a brac) domain and multiple kelch repeats. The BTB domain mediates protein-protein interactions and transcriptional regulation, while kelch repeats are involved in substrate recognition for ubiquitination. KBTBD6 is thought to function as a substrate adaptor for CUL3-based E3 ubiquitin ligases, targeting proteins for proteasomal degradation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association confirmed | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Brain | 4.5 | Low |
| Lung | 3.1 | Low |
| Liver | 2.0 | Low |
| Kidney | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.0 | Moderate expression |
| HeLa | 3.5 | Low expression |
| K562 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown |
| c.567delG | Frameshift deletion | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift deletions likely cause loss of function.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity | • protein binding |
| • BTB domain binding |
Pathways
• CUL3-mediated ubiquitination and degradation
Protein Summary
The KBTBD6 protein is a 627-amino acid polypeptide with a BTB domain at the N-terminus and six kelch repeats. It localizes to the cytoplasm and is implicated in ubiquitin-dependent protein degradation via CUL3 interaction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KBTBD6 Knockout HEK293 Cell Line | EDJ-KQ10535 | Human | 89890 | Details Get a Quote |
| KBTBD6 Knockout A-549 Cell Line | EDJ-KQ37962 | Human | 89890 | Details Get a Quote |
| KBTBD6 Knockout HeLa Cell Line | EDJ-KQ37964 | Human | 89890 | Details Get a Quote |
| KBTBD6 Knockout HCT 116 Cell Line | EDJ-KQ36670 | Human | 89890 | Details Get a Quote |
