KBTBD7
Kelch Repeat and BTB Domain Containing 7
Gene Information Card
| Symbol | KBTBD7 |
|---|---|
| Full Name | Kelch Repeat and BTB Domain Containing 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q14.11 |
| NCBI Gene ID | 84078 ncbi.nlm.nih.gov/gene/84078 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | Q8WVZ9 |
| OMIM ID | 617269 |
| HGNC ID | 25673 |
| Aliases | FLJ22662, MGC131831 |
Description
KBTBD7 encodes a protein containing a BTB (broad-complex, tramtrack, and bric-a-brac) domain and multiple Kelch repeats. BTB domains are involved in protein-protein interactions and transcriptional regulation, while Kelch repeats often mediate substrate recognition in ubiquitin ligase complexes. KBTBD7 is predicted to function as a substrate adaptor for CUL3-based E3 ubiquitin ligases, targeting proteins for ubiquitination and proteasomal degradation. Its specific substrates and biological roles are under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Brain | 2.1 | Not detected |
| Liver | 1.8 | Not detected |
| Kidney | 1.5 | Not detected |
| Heart | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 3.0 | Low expression |
| HeLa | 2.5 | Low expression |
| K562 | 1.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • ubiquitin protein ligase activity |
| • BTB domain binding |
Pathways
• CUL3-RING ubiquitin ligase complex
Protein Summary
The KBTBD7 protein (UniProt Q8WVZ9) contains a BTB domain at the N-terminus and six Kelch repeats at the C-terminus. It is predicted to act as a substrate-specific adaptor for CUL3-based E3 ubiquitin ligases, facilitating ubiquitination and degradation of target proteins. The protein is expressed at low levels in testis and some cell lines. Its precise cellular functions and substrates remain to be fully characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KBTBD7 Knockout HEK293 Cell Line | EDJ-KQ9972 | Human | 84078 | Details Get a Quote |
| KBTBD7 Knockout A-549 Cell Line | EDJ-KQ36908 | Human | 84078 | Details Get a Quote |
| KBTBD7 Knockout HCT 116 Cell Line | EDJ-KQ36909 | Human | 84078 | Details Get a Quote |
| KBTBD7 Knockout HeLa Cell Line | EDJ-KQ36910 | Human | 84078 | Details Get a Quote |
