KLHL29 Gene
Kelch Like Family Member 29
Gene Information Card
| Symbol | KLHL29 |
|---|---|
| Full Name | Kelch Like Family Member 29 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p24.1 |
| NCBI Gene ID | 114818 ncbi.nlm.nih.gov/gene/114818 |
| Ensembl ID | ENSG00000115966 |
| UniProt ID | Q96CT2 |
| OMIM ID | 614414 |
| HGNC ID | 29372 |
| Aliases | KIAA1892, MGC138290 |
Description
KLHL29 is a protein-coding gene belonging to the kelch-like (KLHL) family, characterized by a BTB/POZ domain and kelch repeats. The encoded protein is predicted to function as a substrate-specific adapter for CUL3-based E3 ubiquitin ligase complexes, mediating ubiquitination and proteasomal degradation of target proteins. KLHL29 is involved in cytoskeletal organization and protein turnover. Its expression is enriched in testis and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease association | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 4.1 | Low |
| Heart | 3.2 | Low |
| Liver | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.7 | Low expression |
| K562 | 4.2 | Low expression |
| HeLa | 3.9 | Low expression |
| HepG2 | 2.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature stop, likely loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Premature stop, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (p.Arg412*, p.Trp189*) are predicted to cause loss of function via nonsense-mediated decay.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • zinc ion binding (GO:0008270) |
| • ubiquitin protein ligase binding (GO:0031625) | • metal ion binding (GO:0046872) |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• CUL3-KLHL E3 ubiquitin ligase complex
Protein Summary
KLHL29 is a 748-amino acid protein containing an N-terminal BTB/POZ domain and six C-terminal kelch repeats. It acts as a substrate adaptor for CUL3-RING ubiquitin ligases, targeting proteins for proteasomal degradation. The protein is predominantly cytoplasmic and may play roles in spermatogenesis and neuronal function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLHL29 Knockout HEK293 Cell Line | EDJ-KQ6817 | Human | 114818 | Details Get a Quote |
| KLHL29 Knockout A-549 Cell Line | EDJ-KQ32695 | Human | 114818 | Details Get a Quote |
| KLHL29 Knockout HCT 116 Cell Line | EDJ-KQ32696 | Human | 114818 | Details Get a Quote |
| KLHL29 Knockout HeLa Cell Line | EDJ-KQ32697 | Human | 114818 | Details Get a Quote |
