KCTD5
Potassium Channel Tetramerization Domain Containing 5
Gene Information Card
| Symbol | KCTD5 |
|---|---|
| Full Name | Potassium Channel Tetramerization Domain Containing 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 25842 ncbi.nlm.nih.gov/gene/25842 |
| Ensembl ID | ENSG00000103174 |
| UniProt ID | Q9NXV2 |
| OMIM ID | 617643 |
| HGNC ID | 21406 |
| Aliases | FLJ20073, MGC138290, MGC138291 |
Description
KCTD5 encodes a member of the potassium channel tetramerization domain (KCTD) family. The protein contains a BTB/POZ domain and is involved in protein ubiquitination and degradation, acting as a substrate receptor for the CUL3-RING ubiquitin ligase complex. It plays roles in cell cycle regulation, ciliogenesis, and neuronal development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Missense variants in KCTD5 impair protein function, leading to neurodevelopmental phenotypes | ClinVar |
| Epileptic encephalopathy | De novo mutations in KCTD5 disrupt CUL3-mediated ubiquitination, causing neuronal dysfunction | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Kidney | 9.5 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.5 | High expression |
| SH-SY5Y | 14.3 | Medium expression |
| HeLa | 11.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.511C>T (p.Arg171Trp) | Missense | Rare | Loss of function; reduced CUL3 binding |
| c.632G>A (p.Arg211Gln) | Missense | Rare | Dominant-negative effect; impaired ubiquitination |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg171Trp) reduce binding to CUL3, impairing ubiquitin ligase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
p.Arg211Gln disrupts complex assembly, interfering with wild-type function.
View complete mutation data：
Gene Ontology (GO)
| • protein ubiquitination | • BTB domain binding |
| • CUL3-RING ubiquitin ligase complex | • cell cycle |
| • ciliogenesis | • neuron development |
Pathways
• CUL3-mediated ubiquitination and degradation
• Protein ubiquitination pathway
Protein Summary
KCTD5 is a 257-amino acid protein containing a BTB/POZ domain that mediates interaction with CUL3. It functions as a substrate receptor for the E3 ubiquitin ligase complex, targeting proteins for proteasomal degradation. KCTD5 is involved in cell cycle progression, primary cilium formation, and neuronal differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCTD5 Knockout HEK293 Cell Line | EDJ-KQ11415 | Human | 54442 | Details Get a Quote |
| KCTD5 Knockout A-549 Cell Line | EDJ-KQ39650 | Human | 54442 | Details Get a Quote |
| KCTD5 Knockout HCT 116 Cell Line | EDJ-KQ39651 | Human | 54442 | Details Get a Quote |
| KCTD5 Knockout HeLa Cell Line | EDJ-KQ39652 | Human | 54442 | Details Get a Quote |
