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.

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 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
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