KLHL18 Gene - Kelch Like Family Member 18
Comprehensive genomic and functional analysis of KLHL18, a BTB-Kelch protein involved in ubiquitination and cell cycle regulation.
Gene Information Card
| Symbol | KLHL18 |
|---|---|
| Full Name | Kelch Like Family Member 18 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 23228 ncbi.nlm.nih.gov/gene/23228 |
| Ensembl ID | ENSG00000114544 |
| UniProt ID | Q5T7P8 |
| OMIM ID | 617256 |
| HGNC ID | 29186 |
| Aliases | KIAA0795, MGC138290 |
Description
KLHL18 (Kelch Like Family Member 18) encodes a protein belonging to the BTB-Kelch family, characterized by an N-terminal BTB/POZ domain and C-terminal Kelch repeats. The protein acts as a substrate-specific adapter for CUL3-based E3 ubiquitin ligase complexes, targeting proteins for ubiquitination and proteasomal degradation. KLHL18 is involved in cell cycle progression, particularly mitotic regulation, and has been implicated in ciliogenesis and cancer biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered ubiquitination of cell cycle regulators | COSMIC somatic mutations observed in multiple cancer types |
| Lung adenocarcinoma | Potential loss of function affecting mitotic control | COSMIC mutation data |
| Colorectal carcinoma | Dysregulation of CUL3-KLHL18 complex | COSMIC mutation data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Low |
| Lung | 6.1 | Low |
| Colon | 5.4 | Low |
| Breast | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Embryonic kidney cell line |
| A549 | 7.1 | Lung carcinoma cell line |
| HCT116 | 6.5 | Colorectal carcinoma cell line |
| MCF7 | 5.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.1% | Unknown functional impact |
| c.1246G>A (p.Glu416Lys) | Missense | <0.1% | Unknown functional impact |
| c.1570_1571insA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, disrupting Kelch repeats and substrate binding.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• CUL3-mediated ubiquitination and degradation
• Cell cycle
• mitotic
Protein Summary
KLHL18 is a 648-amino acid protein with a BTB/POZ domain (residues 30-130) and six Kelch repeats (residues 280-600). It localizes to the cytoplasm and centrosome, and functions as an adapter for CUL3 E3 ubiquitin ligase. The protein is involved in mitotic spindle organization and cilia assembly. Structural integrity of the Kelch domain is critical for substrate recognition.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLHL18 Knockout HEK293 Cell Line | EDJ-KQ7254 | Human | 23276 | Details Get a Quote |
| KLHL18 Knockout A-549 Cell Line | EDJ-KQ33584 | Human | 23276 | Details Get a Quote |
| KLHL18 Knockout HCT 116 Cell Line | EDJ-KQ33586 | Human | 23276 | Details Get a Quote |
| KLHL18 Knockout HeLa Cell Line | EDJ-KQ33587 | Human | 23276 | Details Get a Quote |
