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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KLHL22
kelch like family member 22
Chromosome 22 · 22q11.21
NCBI Gene: 84861Ensembl: ENSG00000099910.18HGNC: HGNC:25888UniProt: Q53GT1
62PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleuslysosomeprotein binding14-3-3 protein bindingcolorectal carcinomaappendicitisneoplasmdisorder of appendix
✦AI Summary

KLHL22 (kelch like family member 22) functions as a substrate adapter for the CUL3-based E3 ubiquitin ligase complex (BCR(KLHL22)), orchestrating multiple cellular processes through selective protein ubiquitination. Its primary role involves regulating mitotic progression by mediating monoubiquitination of PLK1 at Lys492 within the polo-box domain, causing PLK1 dissociation from kinetochores and enabling spindle assembly checkpoint silencing without triggering PLK1 degradation 1. KLHL22 also activates mTORC1 signaling by promoting K48-linked polyubiquitination and proteasomal degradation of DEPDC5, a key GATOR1 complex component, thereby releasing mTORC1 inhibition in response to amino acid stimulation 2. The BCR(KLHL22) complex achieves its catalytic activity through a conserved CUL3 N-terminal motif that enables dimeric assembly and creates a variable ubiquitination zone for substrate recognition 3. Beyond cell cycle and nutrient sensing, KLHL22 regulates immune homeostasis by maintaining PD-1 protein stability through ubiquitin-mediated degradation prior to surface transport, preventing excessive T cell suppression 4. KLHL22 also mediates degradation of NSP6 viral protein, controlling calcium homeostasis and autophagic cell death in SARS-CoV-2 infection 5. Elevated KLHL22 correlates with breast cancer progression and poor prognosis, making it a potential therapeutic target 2.

Sources cited
1
KLHL22 mediates monoubiquitination of PLK1 at Lys492 in the polo-box domain, causing PLK1 dissociation from kinetochores and SAC silencing without affecting PLK1 stability
PMID: 23455478
2
CUL3-KLHL22 promotes K48-linked polyubiquitination and degradation of DEPDC5, activating mTORC1 signaling in response to amino acids; KLHL22 is elevated in breast cancer tumors
PMID: 29769719
3
KLHL22 contains a conserved CUL3 N-terminal motif that contributes to dimeric assembly and E3 ligase activity, generating a variable ubiquitination zone
PMID: 38710693
4
KLHL22 maintains PD-1 homeostasis by mediating degradation of PD-1 before its surface transport, preventing excessive T cell suppression; KLHL22 is decreased in tumor-infiltrating T cells from colorectal cancer patients
PMID: 33109719
5
KLHL22 mediates K48-linked ubiquitination and degradation of SARS-CoV-2 NSP6, restoring calcium homeostasis and reversing NSP6-induced autophagic cell death
PMID: 40373961
Disease Associationsⓘ20
colorectal carcinomaOpen Targets
0.07Suggestive
appendicitisOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
disorder of appendixOpen Targets
0.05Suggestive
gastric ulcerOpen Targets
0.05Suggestive
triple-negative breast cancerOpen Targets
0.05Suggestive
early-onset non-syndromic cataractOpen Targets
0.05Suggestive
Cataract-microcornea syndromeOpen Targets
0.05Suggestive
Cataract with Y-shaped suture opacitiesOpen Targets
0.04Suggestive
Total congenital cataractOpen Targets
0.04Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.04Suggestive
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxiaOpen Targets
0.04Suggestive
spinocerebellar ataxia, autosomal recessive 24Open Targets
0.04Suggestive
Cerebellum agenesis - hydrocephalyOpen Targets
0.04Suggestive
hydrocephaly-cerebellar agenesis syndromeOpen Targets
0.04Suggestive
isolated ectopia lentisOpen Targets
0.04Suggestive
granular corneal dystrophy type IOpen Targets
0.04Suggestive
Posterior polar cataractOpen Targets
0.04Suggestive
exfoliation syndromeOpen Targets
0.04Suggestive
mathematical abilityOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RBX1Protein interaction99%TNFAIP1Protein interaction93%GANProtein interaction93%LZTR1Protein interaction93%SPOPProtein interaction93%ENC1Protein interaction93%
Tissue Expression6 tissues
Ovary
100%
Heart
74%
Brain
61%
Liver
55%
Lung
47%
Bone Marrow
40%
Gene Interaction Network
Click a node to explore
KLHL22RBX1TNFAIP1GANLZTR1SPOPENC1
PROTEIN STRUCTURE
Preparing viewer…
PDB8W4J · 3.06 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.47Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.31 [0.21–0.47]
RankingsWhere KLHL22 stands among ~20K protein-coding genes
  • #7,474of 20,598
    Most Researched62
  • #2,704of 17,882
    Most Constrained (LOEUF)0.47 · top quartile
Genes detectedKLHL22
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
COLEC10 inhibits the stemness of hepatocellular carcinoma by suppressing the activity of β-catenin signaling.
PMID: 39080215
Cell Oncol (Dordr) · 2024
1.00
2
KLHL22 activates amino-acid-dependent mTORC1 signalling to promote tumorigenesis and ageing.
PMID: 29769719
Nature · 2018
0.90
3
A conserved N-terminal motif of CUL3 contributes to assembly and E3 ligase activity of CRL3
PMID: 38710693
Nat Commun · 2024
0.80
4
NSP6 regulates calcium overload-induced autophagic cell death and is regulated by KLHL22-mediated ubiquitination.
PMID: 40373961
J Adv Res · 2025
0.70
5
Ubiquitylation-dependent localization of PLK1 in mitosis.
PMID: 23455478
Nat Cell Biol · 2013
0.60