CUL9 (Cullin 9)
A scaffold protein for ubiquitin ligase complexes involved in cell cycle regulation and tumor suppression
Gene Information Card
| Symbol | CUL9 |
|---|---|
| Full Name | Cullin 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 23113 ncbi.nlm.nih.gov/gene/23113 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q8IWT3 |
| OMIM ID | 609535 |
| HGNC ID | 20582 |
| Aliases | HSPC251, MGC138290, PARC, p53-associated parkin-like cytoplasmic protein |
Description
CUL9 (cullin 9) encodes a scaffold protein that assembles a ubiquitin ligase complex with RBX1 and an E3 ligase. It functions as a cytoplasmic anchor for p53, regulating its subcellular localization and stability. CUL9 is involved in cell cycle control, apoptosis, and tumor suppression. Loss of CUL9 function is associated with increased cancer susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | CUL9 loss leads to p53 cytoplasmic sequestration and impaired tumor suppression | COSMIC; PMID: 16314841 |
| Lung cancer | Reduced CUL9 expression correlates with poor prognosis and p53 dysfunction | COSMIC; PMID: 20010872 |
| Colorectal cancer | CUL9 mutations found in sporadic tumors, affecting p53 regulation | COSMIC; PMID: 21552270 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| MCF7 | 6.5 | Breast cancer cells |
| A549 | 5.2 | Lung cancer cells |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <1% | Loss of function; truncated protein |
| c.567_568del (p.Glu189fs) | Frameshift | <1% | Loss of function; premature stop |
| c.2101G>A (p.Gly701Arg) | Missense | <1% | Unknown; predicted damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, impairing ubiquitin ligase activity and p53 regulation.
Gain of Function (GOF)
No gain-of-function mutations reported in CUL9.
Dominant Negative (DN)
No dominant-negative mutations reported in CUL9.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• p53 signaling pathway (KEGG: hsa04115)
• Protein ubiquitination (Reactome: R-HSA-983168)
Protein Summary
Cullin 9 (CUL9) is a 2518-amino acid scaffold protein that forms a functional ubiquitin ligase complex with RBX1. It contains a cullin domain and a RING finger domain. CUL9 binds to p53 and sequesters it in the cytoplasm, thereby regulating p53-mediated transcription and apoptosis. It also participates in mitotic spindle assembly and chromosome segregation. CUL9 is widely expressed, with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CUL9 Knockout HEK293 Cell Line | EDJ-KQ2434 | Human | 23113 | Details Get a Quote |
| CUL9 Knockout A-549 Cell Line | EDJ-KQ22943 | Human | 23113 | Details Get a Quote |
| CUL9 Knockout HCT 116 Cell Line | EDJ-KQ22944 | Human | 23113 | Details Get a Quote |
| CUL9 Knockout HeLa Cell Line | EDJ-KQ22945 | Human | 23113 | Details Get a Quote |