KLHL25
Kelch Like Family Member 25
Gene Information Card
| Symbol | KLHL25 |
|---|---|
| Full Name | Kelch Like Family Member 25 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q15.3 |
| NCBI Gene ID | 644859 ncbi.nlm.nih.gov/gene/644859 |
| Ensembl ID | ENSG00000186265 |
| UniProt ID | Q5MNZ9 |
| OMIM ID | 617199 |
| HGNC ID | 28789 |
| Aliases | ENSMUSG00000034870, KIAA1509, MGC138290, MGC138292 |
Description
KLHL25 (Kelch Like Family Member 25) is a protein coding gene. It encodes a member of the Kelch-like protein family, characterized by a BTB (Broad-Complex, Tramtrack, and Bric a brac) domain and Kelch repeats. KLHL25 functions as a substrate-specific adaptor for CUL3-based E3 ubiquitin ligase complexes, targeting proteins for ubiquitination and proteasomal degradation. It is involved in cellular processes including protein homeostasis, cell cycle regulation, and stress response. The gene is widely expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
| Heart | 4.8 | Low |
| Lung | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Embryonic kidney cells |
| HeLa | 8.7 | Cervical carcinoma cells |
| K562 | 6.2 | Leukemia cells |
| HepG2 | 5.1 | Hepatocellular carcinoma cells |
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)
No documented loss-of-function mutations in human disease.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
No documented dominant-negative mutations.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
Protein Summary
KLHL25 is a 587-amino acid protein (UniProt Q5MNZ9) containing an N-terminal BTB domain and six C-terminal Kelch repeats. It acts as a substrate adaptor for CUL3-RING ubiquitin ligase complexes, mediating ubiquitination and degradation of target proteins. The protein is localized in the cytoplasm and cytosol. Its expression is detected in multiple tissues, with highest levels in testis. No disease-associated variants have been reported in ClinVar or OMIM.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLHL25 Knockout HEK293 Cell Line | EDJ-KQ13957 | Human | 64410 | Details Get a Quote |
| KLHL25 Knockout A-549 Cell Line | EDJ-KQ43882 | Human | 64410 | Details Get a Quote |
| KLHL25 Knockout HCT 116 Cell Line | EDJ-KQ43883 | Human | 64410 | Details Get a Quote |
| KLHL25 Knockout HeLa Cell Line | EDJ-KQ43884 | Human | 64410 | Details Get a Quote |