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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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KLHL5
kelch like family member 5
Chromosome 4 · 4p14
NCBI Gene: 51088Ensembl: ENSG00000109790.18HGNC: HGNC:6356UniProt: A0A804C9D6
26PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmicrotubule cytoskeletonproteasome-mediated ubiquitin-dependent protein catabolic processcytoplasmneurodegenerative diseaseesophageal varicescolorectal carcinomaneoplasm
✦AI Summary

KLHL5 (kelch like family member 5) is a BTB and kelch repeat-containing protein that functions as a substrate adaptor for the Cullin3-RING E3 ubiquitin ligase complex 1. It mediates proteasomal degradation of target proteins through lysine ubiquitination, including sphingosine kinase 1 at lysine 183 2. KLHL5 is abundantly expressed in ovary, adrenal gland, and thyroid tissues 1. In cancer pathophysiology, KLHL5 promotes malignant progression across multiple cancer types. In colorectal cancer (CRC), KLHL5 is highly expressed relative to normal mucosa, with expression correlating with advanced stage, depth of invasion, lymphovascular invasion, and lymph node metastasis 3. Mechanistically, KLHL5 enhances CRC cell survival by promoting cell cycle progression through upregulation of CDT1, CDC6, and cyclins A and B, while simultaneously suppressing apoptosis via regulation of anti- and pro-apoptotic factors 4. In gastric cancer, the miR-181-5p/KLHL5 axis promotes proliferation and migration by activating METTL3-mediated m6A RNA modification 5. KLHL5 is also associated with neuropathic pain pathogenesis 6 and appears relevant to Alzheimer's disease neuroinflammation 7. Clinically, KLHL5 serves as a potential prognostic biomarker and therapeutic target for CRC and other cancers due to its role in tumor progression and poor survival outcomes.

Sources cited
1
KLHL5 is a kelch family protein with BTB and kelch repeat domains; tissue expression pattern in ovary, adrenal gland, thyroid, and other tissues
PMID: 11590829
2
KLHL5 functions as a substrate adaptor for Cullin3 ubiquitin ligase complex; mediates proteasomal degradation of sphingosine kinase 1 through lysine 183 ubiquitination
PMID: 31652307
3
KLHL5 is highly expressed in colorectal cancer relative to normal mucosa; expression correlates with CRC stage, depth of invasion, lymphovascular invasion, lymph node metastasis, and poor prognosis
PMID: 40504175
4
KLHL5 depletion suppresses CRC cell growth and migration; KLHL5 promotes cell cycle progression via CDT1, CDC6, cyclins A and B; KLHL5 suppresses apoptosis through Bcl-2 and pro-apoptotic factor regulation
PMID: 40590665
5
miR-181-5p targets KLHL5; KLHL5 promotes gastric cancer proliferation, migration, and invasion by activating METTL3-mediated m6A process
PMID: 37733183
6
KLHL5 identified as differentially expressed gene associated with neuropathic pain; potential therapeutic target for neuropathic pain
PMID: 36816032
7
KLHL5 identified as gene significantly associated with Alzheimer's disease risk in perivascular macrophages
PMID: 40622473
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.52Moderate
esophageal varicesOpen Targets
0.28Weak
colorectal carcinomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.07Suggestive
cancerOpen Targets
0.06Suggestive
Familial LCAT deficiencyOpen Targets
0.04Suggestive
LCAT deficiencyOpen Targets
0.04Suggestive
galactokinase deficiencyOpen Targets
0.04Suggestive
gastric adenocarcinomaOpen Targets
0.04Suggestive
hemolytic anemia due to glutathione reductase deficiencyOpen Targets
0.04Suggestive
DiarrheaOpen Targets
0.04Suggestive
response to darapladibOpen Targets
0.04Suggestive
isolated familial wooly hair disorderOpen Targets
0.04Suggestive
Woolly hairOpen Targets
0.04Suggestive
Norum diseaseOpen Targets
0.04Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.03Suggestive
sitosterolemia 1Open Targets
0.03Suggestive
Tietz syndromeOpen Targets
0.03Suggestive
Tietze syndromeOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KBTBD13Shared pathway100%LRRC75AShared pathway100%KLHL30Shared pathway100%KLHL38Shared pathway100%KLHL10Shared pathway100%KLHL35Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Liver
98%
Heart
66%
Lung
62%
Ovary
46%
Bone Marrow
43%
Gene Interaction Network
Click a node to explore
KLHL5KBTBD13LRRC75AKLHL30KLHL38KLHL10KLHL35
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q59HD9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.71LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.55 [0.43–0.71]
RankingsWhere KLHL5 stands among ~20K protein-coding genes
  • #12,815of 20,598
    Most Researched26
  • #5,460of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedKLHL5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Implication of KLHL Gene Family Member KLHL5 in Colorectal Cancer Progression and Prognosis.
PMID: 40504175
Cancer Sci · 2025
1.00
2
Cloning and characterization of KLHL5, a novel human gene encoding a kelch-related protein with a BTB domain.
PMID: 11590829
Biochem Genet · 2001
0.90
3
KLHL5 Contributes to Colorectal Cancer Cell Survival by Promoting Cell Cycle Progression and Suppressing Apoptotic Cell Death.
PMID: 40590665
Cancer Sci · 2025
0.80
4
miR-181-5p/KLHL5 Promoted Proliferation and Migration of Gastric Cancer Through Activating METTL3-Mediated m6A Process.
PMID: 37733183
Mol Biotechnol · 2024
0.70
5
Molecular Mechanisms of Perivascular Macrophages in Alzheimer's Disease: Insights from Single-Cell Sequencing and Mendelian Randomization.
PMID: 40622473
Cell Mol Neurobiol · 2025
0.60