KLHL38 Gene - Kelch Like Family Member 38
Comprehensive genomic and functional overview of KLHL38
Gene Information Card
| Symbol | KLHL38 |
|---|---|
| Full Name | kelch like family member 38 |
| Gene Type | protein coding |
| Chromosomal Location | 11q24.2 |
| NCBI Gene ID | 729920 ncbi.nlm.nih.gov/gene/729920 |
| Ensembl ID | ENSG00000187608 |
| UniProt ID | Q8N4C6 |
| OMIM ID | 616660 |
| HGNC ID | 30323 |
| Aliases | MGC16384, FLJ32709 |
Description
KLHL38 (kelch like family member 38) is a protein coding gene. The encoded protein contains a BTB/POZ domain and a kelch repeat domain, characteristic of the kelch-like family of proteins which are involved in substrate recognition for ubiquitination and cytoskeletal organization. KLHL38 is predicted to play a role in protein ubiquitination and degradation pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease association reported in ClinVar | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 4.2 | Low |
| Brain | 2.1 | Low |
| Lung | 1.5 | Low |
| Liver | 0.8 | Not detected |
| Kidney | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 3.5 | Low expression |
| HeLa | 2.0 | Low expression |
| K562 | 1.2 | 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)
No documented loss-of-function variants
Gain of Function (GOF)
No documented gain-of-function variants
Dominant Negative (DN)
No documented dominant-negative variants
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • cytosol (GO:0005829) |
| • ubiquitin protein ligase binding (GO:0031625) |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120) - predicted
Protein Summary
KLHL38 encodes a 627-amino acid protein with a BTB/POZ domain (residues 1-120) and six kelch repeats (residues 200-600). The BTB domain mediates dimerization and interaction with cullin-based E3 ubiquitin ligases, while the kelch repeats form a beta-propeller structure for substrate recognition. The protein is predicted to function as a substrate adaptor for CUL3-based E3 ubiquitin ligase complexes, targeting specific proteins for ubiquitination and proteasomal degradation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLHL38 Knockout HEK293 Cell Line | EDJ-KQ13963 | Human | 340359 | Details Get a Quote |
| KLHL38 Knockout HeLa Cell Line | EDJ-KQ59676 | Human | 340359 | Details Get a Quote |
| KLHL38 Knockout A-549 Cell Line | EDJ-KQ68148 | Human | 340359 | Details Get a Quote |
| KLHL38 Knockout HCT 116 Cell Line | EDJ-KQ76525 | Human | 340359 | Details Get a Quote |
