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GeneE
27 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CUL3
cullin 3
Chromosome 2 Β· 2q36.2
NCBI Gene: 8452Ensembl: ENSG00000036257.15HGNC: HGNC:2553UniProt: B7Z600
481PubMed Papers
22Diseases
0Drugs
105Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
spindle poleanaphase-promoting complex-dependent catabolic processubiquitin-protein transferase activityNotch bindingpseudohypoaldosteronism type 2Eneurodevelopmental disorder with or without autism or seizuresneurodegenerative diseasegenetic disorder
✦AI Summary

CUL3 (cullin 3) is a scaffold protein that forms the core component of multiple cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes, which mediate ubiquitination and subsequent proteasomal degradation of target proteins 1. The functional specificity of CUL3 complexes depends on BTB domain-containing adaptor proteins that provide substrate recognition. CUL3 regulates diverse cellular processes through substrate-specific complexes: CUL3-KLHL3 controls ion transport by ubiquitinating WNK4 kinases in the kidney 2, CUL3-LZTR1 regulates RAS signaling by promoting RAS ubiquitination at lysine-170 and attenuating membrane association 34, and CUL3-ARMC5 mediates transcriptional quality control by ubiquitinating RNA polymerase II subunits 5. CUL3 also controls autophagy through BECN1 degradation 1, facilitates transcription-replication conflict resolution via KCTD10 6, and can be hijacked by bacterial pathogens to modulate host mitophagy 7. Disease relevance includes familial hyperkalemic hypertension caused by CUL3 mutations that disrupt WNK kinase regulation 2, and Noonan syndrome through LZTR1 mutations affecting RAS regulation 4. CUL3 also shows therapeutic potential as a target in cancer drug resistance 8.

Sources cited
1
CUL3 is an E3 ubiquitin ligase that interacts with BECN1 and promotes K48-linked ubiquitination and degradation
PMID: 33977871
2
CUL3 mutations cause familial hyperkalemic hypertension by disrupting WNK kinase regulation in the kidney
PMID: 39699086
3
LZTR1-CUL3 complex ubiquitinates RAS at lysine-170 and inhibits RAS signaling by attenuating membrane association
PMID: 30442762
4
Dominant Noonan syndrome-causing LZTR1 mutations enhance RAS-MAPK signaling and affect substrate binding
PMID: 30481304
5
CRL3ARMC5 E3 ligase ubiquitylates RNA polymerase II for transcriptional quality control
PMID: 39504960
6
CUL3 complexes with KLHL9/KLHL13 can be hijacked by bacterial pathogens to modulate host mitophagy
PMID: 38834545
7
CUL3-KCTD10 complex senses transcription-replication conflicts and facilitates replisome bypass
PMID: 41062692
8
CUL3 is identified as a candidate gene involved in resistance to vemurafenib in melanoma
PMID: 24336571
Disease Associationsβ“˜22
pseudohypoaldosteronism type 2EOpen Targets
0.76Strong
neurodevelopmental disorder with or without autism or seizuresOpen Targets
0.76Strong
neurodegenerative diseaseOpen Targets
0.57Moderate
genetic disorderOpen Targets
0.54Moderate
pseudohypoaldosteronism type 2AOpen Targets
0.53Moderate
complex neurodevelopmental disorderOpen Targets
0.50Moderate
schizophreniaOpen Targets
0.47Moderate
mathematical abilityOpen Targets
0.44Moderate
smoking initiationOpen Targets
0.42Moderate
autism spectrum disorderOpen Targets
0.42Moderate
papillary renal cell carcinomaOpen Targets
0.41Moderate
developmental disorder of mental healthOpen Targets
0.37Weak
squamous cell lung carcinomaOpen Targets
0.37Weak
risk-taking behaviourOpen Targets
0.36Weak
autosomal dominant pseudohypoaldosteronism type 1Open Targets
0.35Weak
Intellectual disabilityOpen Targets
0.30Weak
attention deficit hyperactivity disorderOpen Targets
0.28Weak
substance abuseOpen Targets
0.28Weak
smoking cessationOpen Targets
0.28Weak
frozen shoulderOpen Targets
0.28Weak
Neurodevelopmental disorder with or without autism or seizuresUniProt
Pseudohypoaldosteronism 2EUniProt
Pathogenic Variants105
NM_003590.5(CUL3):c.382C>T (p.Arg128Cys)Pathogenic
not provided|Neurodevelopmental disorder with or without autism or seizures
β˜…β˜…β˜†β˜†2026β†’ Residue 128
NM_003590.5(CUL3):c.493_494del (p.Leu165fs)Pathogenic
not provided|Inborn genetic diseases|Pseudohypoaldosteronism type 2E|Neurodevelopmental disorder with or without autism or seizures
β˜…β˜…β˜†β˜†2026β†’ Residue 165
NM_003590.5(CUL3):c.739C>T (p.Arg247Ter)Pathogenic
not provided|Pseudohypoaldosteronism type 2E;Neurodevelopmental disorder with or without autism or seizures
β˜…β˜…β˜†β˜†2025β†’ Residue 247
NM_003590.5(CUL3):c.1549_1552del (p.Ser517fs)Pathogenic
not provided|Abnormal cardiovascular system morphology|Neurodevelopmental disorder with or without autism or seizures
β˜…β˜…β˜†β˜†2025β†’ Residue 517
NM_003590.5(CUL3):c.433_436del (p.Ile145fs)Pathogenic
not provided|CUL3-related disorder|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 145
NM_003590.5(CUL3):c.1377+1G>APathogenic
not provided|CUL3-related disorder
β˜…β˜…β˜†β˜†2025
NM_003590.5(CUL3):c.1349_1350del (p.Asp449_Ser450insTer)Pathogenic
Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 449
NM_003590.5(CUL3):c.442C>T (p.Arg148Ter)Pathogenic
not provided|Neurodevelopmental disorder with or without autism or seizures
β˜…β˜…β˜†β˜†2024β†’ Residue 148
NM_003590.5(CUL3):c.1358del (p.Asn453fs)Pathogenic
not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024β†’ Residue 453
NM_003590.5(CUL3):c.173A>G (p.Tyr58Cys)Pathogenic
not provided|Autosomal dominant pseudohypoaldosteronism type 1|NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES
β˜…β˜…β˜†β˜†2024β†’ Residue 58
NM_003590.5(CUL3):c.1103_1106del (p.Gln368fs)Pathogenic
CUL3-related disorder|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 368
NM_003590.5(CUL3):c.883+1G>APathogenic
not provided
β˜…β˜…β˜†β˜†2024
NM_003590.5(CUL3):c.1105del (p.Thr369fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 369
NM_003590.5(CUL3):c.1519del (p.Val507fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 507
NM_003590.5(CUL3):c.1610+2T>CPathogenic
Neurodevelopmental disorder with or without autism or seizures
β˜…β˜†β˜†β˜†2025
NM_003590.5(CUL3):c.859dup (p.Met287fs)Likely pathogenic
Neurodevelopmental disorder with or without autism or seizures
β˜…β˜†β˜†β˜†2025β†’ Residue 287
NM_003590.5(CUL3):c.963G>C (p.Leu321Phe)Likely pathogenic
Neurodevelopmental disorder with or without autism or seizures
β˜…β˜†β˜†β˜†2025β†’ Residue 321
NM_003590.5(CUL3):c.409G>T (p.Glu137Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 137
NM_003590.5(CUL3):c.1276del (p.Asp426fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 426
NM_003590.5(CUL3):c.235_236del (p.Glu79fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 79
View on ClinVar β†—
Related Genes
CCNE1Protein interaction100%GPS1Protein interaction100%NEDD8Protein interaction100%NFE2L2Protein interaction100%CUL5Protein interaction100%GANProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
67%
Bone Marrow
58%
Lung
41%
Ovary
40%
Liver
36%
Gene Interaction Network
Click a node to explore
CUL3CCNE1GPS1NEDD8NFE2L2CUL5GAN
PROTEIN STRUCTURE
Preparing viewer…
PDB6I2M Β· 2.30 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.36Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.23 [0.15–0.36]
RankingsWhere CUL3 stands among ~20K protein-coding genes
  • #551of 20,598
    Most Researched481 Β· top 5%
  • #733of 5,498
    Most Pathogenic Variants105 Β· top quartile
  • #1,656of 17,882
    Most Constrained (LOEUF)0.36 Β· top 10%
Genes detectedCUL3
Sources retrieved27 papers
Response timeβ€”
πŸ“„ Sources
27β–Ό
1
Genome-scale CRISPR-Cas9 knockout screening in human cells.
PMID: 24336571
Science Β· 2014
1.00
2
CUL3 (cullin 3)-mediated ubiquitination and degradation of BECN1 (beclin 1) inhibit autophagy and promote tumor progression.
PMID: 33977871
Autophagy Β· 2021
0.90
3
Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.
PMID: 30442762
Science Β· 2018
0.80
4
Familial Hyperkalemic Hypertension.
PMID: 39699086
Compr Physiol Β· 2024
0.70
5
PRDX1 inhibits ferroptosis by binding to Cullin-3 as a molecular chaperone in colorectal cancer.
PMID: 39430237
Int J Biol Sci Β· 2024
0.68