KLHL21: Kelch Like Family Member 21
A BTB-Kelch Protein Involved in Ubiquitination and Cell Cycle Regulation
Gene Information Card
| Symbol | KLHL21 |
|---|---|
| Full Name | Kelch Like Family Member 21 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.31 |
| NCBI Gene ID | 9903 ncbi.nlm.nih.gov/gene/9903 |
| Ensembl ID | ENSG00000162413 |
| UniProt ID | Q9UJP4 |
| OMIM ID | 617522 |
| HGNC ID | 28964 |
| Aliases | KIAA0469, MGC138290 |
Description
KLHL21 encodes a member of the Kelch-like protein family, characterized by a BTB/POZ domain and a Kelch repeat domain. The protein acts as a substrate-specific adapter for the CUL3-based E3 ubiquitin ligase complex, targeting proteins for ubiquitination and proteasomal degradation. KLHL21 is involved in cell cycle progression, particularly cytokinesis, and may play a role in chromosome segregation and mitotic exit.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | KLHL21 may regulate cell cycle proteins; altered expression linked to tumorigenesis | Limited evidence from expression studies; no direct OMIM disease association |
| Hepatocellular carcinoma | Overexpression of KLHL21 associated with poor prognosis; potential role in cell proliferation | PubMed studies; not yet in ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 9.8 | Medium |
| Spleen | 8.2 | Medium |
| Bone marrow | 7.1 | Low |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| HEK293 | 8.5 | Embryonic kidney cells |
| K562 | 7.9 | Leukemia cell line |
| HepG2 | 6.4 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1132C>T (p.Arg378Cys) | Missense | <0.01% | Unknown; rare variant in population databases |
| c.1543G>A (p.Gly515Ser) | Missense | <0.01% | Unknown; no functional studies |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • ubiquitin protein ligase binding (GO:0031625) |
| • cytosol (GO:0005829) | • cytoplasm (GO:0005737) |
| • spindle (GO:0005819) | • cell division (GO:0051301) |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• CUL3-RING ubiquitin ligase complex (Reactome: R-HSA-8951664)
Protein Summary
KLHL21 is a 627-amino acid protein containing an N-terminal BTB/POZ domain and six C-terminal Kelch repeats. It functions as a substrate adaptor for CUL3-based E3 ubiquitin ligases, facilitating ubiquitination of target proteins involved in cell cycle control, particularly during cytokinesis. The protein localizes to the cytoplasm and spindle apparatus. Structural studies suggest the Kelch repeats form a beta-propeller domain that mediates substrate recognition.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLHL21 Knockout HEK293 Cell Line | EDJ-KQ6155 | Human | 9903 | Details Get a Quote |
| KLHL21 Knockout A-549 Cell Line | EDJ-KQ31317 | Human | 9903 | Details Get a Quote |
| KLHL21 Knockout HCT 116 Cell Line | EDJ-KQ31319 | Human | 9903 | Details Get a Quote |
| KLHL21 Knockout HeLa Cell Line | EDJ-KQ31320 | Human | 9903 | Details Get a Quote |
