KLHL9 Gene - Kelch Like Family Member 9
A comprehensive resource for KLHL9 gene function, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | KLHL9 |
|---|---|
| Full Name | Kelch Like Family Member 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p22.3 |
| NCBI Gene ID | 55962 ncbi.nlm.nih.gov/gene/55962 |
| Ensembl ID | ENSG00000106992 |
| UniProt ID | Q9P2J3 |
| OMIM ID | 611205 |
| HGNC ID | 18748 |
| Aliases | KIAA1789, MGC138290 |
Description
KLHL9 (Kelch Like Family Member 9) is a protein coding gene. It encodes a member of the kelch-like protein family, which is characterized by a BTB/POZ domain and a kelch repeat domain. The protein is involved in ubiquitination and protein degradation pathways, acting as a substrate-specific adapter for a CUL3-based E3 ubiquitin ligase complex. KLHL9 plays a role in cytoskeletal organization, cell cycle progression, and transcriptional regulation. Mutations in KLHL9 have been associated with certain cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | KLHL9 mutations may disrupt ubiquitin-mediated degradation of target proteins, leading to altered cell proliferation and tumorigenesis. | COSMIC, ClinVar |
| Developmental delay / Intellectual disability | Loss-of-function variants in KLHL9 are implicated in neurodevelopmental phenotypes, possibly due to impaired protein homeostasis. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| K562 | 6.5 | Leukemia cells |
| A549 | 5.9 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Ter) | Nonsense | <0.1% | Loss of function; premature truncation |
| c.1246G>A (p.Gly416Arg) | Missense | <0.1% | Unknown; predicted damaging |
| c.1573_1574del (p.Leu525fs) | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, impairing E3 ubiquitin ligase adapter function.
Gain of Function (GOF)
Not reported in KLHL9.
Dominant Negative (DN)
Not reported in KLHL9.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• CUL3-based E3 ubiquitin ligase complex (Reactome: R-HSA-8951664)
Protein Summary
The KLHL9 protein is a 627-amino acid member of the kelch-like family, containing an N-terminal BTB/POZ domain and a C-terminal kelch repeat domain. It functions as a substrate-specific adapter for CUL3-based E3 ubiquitin ligase complexes, targeting proteins for ubiquitination and subsequent proteasomal degradation. KLHL9 is involved in regulating the actin cytoskeleton, cell cycle, and transcription. Its expression is highest in testis and brain, and mutations are associated with cancer and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLHL9 Knockout HEK293 Cell Line | EDJ-KQ11541 | Human | 55958 | Details Get a Quote |
| KLHL9 Knockout A-549 Cell Line | EDJ-KQ39870 | Human | 55958 | Details Get a Quote |
| KLHL9 Knockout HCT 116 Cell Line | EDJ-KQ39871 | Human | 55958 | Details Get a Quote |
| KLHL9 Knockout HeLa Cell Line | EDJ-KQ39872 | Human | 55958 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
