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GeneE
8 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KLHL17
kelch like family member 17
Chromosome 1 Β· 1p36.33
NCBI Gene: 339451Ensembl: ENSG00000187961.16HGNC: HGNC:24023UniProt: Q6TDP4
17PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GO:0005615protein bindingubiquitin-like ligase-substrate adaptor activityactin cytoskeleton organizationesophageal atresia/tracheoesophageal fistulaTracheoesophageal fistulaanorectal malformationpancreatic carcinoma
✦AI Summary

KLHL17 (Kelch-like family member 17), also known as Actinfilin, is a substrate adaptor protein for Cullin3-based E3 ubiquitin ligase complexes that regulates both neuronal and cancer-relevant cellular processes. As an adaptor component of the BCR(KLHL17) complex, KLHL17 mediates ubiquitination and proteasomal degradation of specific substrates, including the kainate receptor subunit GluR6 1 and, in pancreatic cancer contexts, vimentin and nestin 2. In neurons, KLHL17 functions as an actin-binding protein critical for dendritic spine enlargement through F-actin remodeling 3. KLHL17 regulates glutamate receptor expression via dual mechanisms: it promotes NSF-dependent AMPA receptor surface trafficking while mediating activity-dependent degradation of kainate receptors 4. Functionally, KLHL17 deficiency impairs dendritic spine enlargement, synaptic transmission, and behavioral functions including social interaction 3. Clinically, KLHL17 variants associate with infantile spasms and autism spectrum disorders 35, suggesting roles in synaptic development. In cancer, KLHL17 expression inversely correlates with pancreatic cancer risk 2 and overexpression promotes non-small cell lung cancer proliferation via Ras/MAPK pathway activation 6. KLHL17 has been identified as a tumor antigen candidate for prostate cancer mRNA vaccines 7.

Sources cited
1
KLHL17 is a member of Cullin-E3 ubiquitin ligase complex with vimentin and nestin as candidate substrates; lower KLHL17 levels associate with pro-inflammatory pathways and increased PDAC risk
PMID: 40307206
2
KLHL17 regulates dendritic spine enlargement, F-actin enrichment, and synaptic activity; KLHL17 deficiency causes hyperactivity and reduced social interaction; associated with infantile spasms and autism
PMID: 33256713
3
KLHL17 overexpression in NSCLC promotes proliferation and migration through Ras/MAPK signaling activation; correlates with tumor size, metastasis, and poor survival
PMID: 35978057
4
KLHL17 identified as overexpressed and mutated tumor antigen in prostate adenocarcinoma with poor prognostic value; candidate for mRNA vaccine development
PMID: 34872584
5
KLHL17 deletion in 1p36 associated with infantile spasms and early infantile epileptic encephalopathy; involved in synaptic function pathways
PMID: 21694734
6
KLHL17 controls AMPA and kainate receptor expression; interacts with NSF to regulate AMPAR surface trafficking; mediates GluK2 degradation via CUL3 ubiquitin ligase
PMID: 38898681
7
Actinfilin/KLHL17 acts as Cul3 substrate adaptor; binds GluR6 kainate receptor and targets it for ubiquitin-proteasomal degradation; regulates surface GluR6 expression
PMID: 17062563
8
KLHL17 is differentially methylated across breast cancer subtypes at chromosome 1p36.3
PMID: 28912426
Disease Associationsβ“˜20
esophageal atresia/tracheoesophageal fistulaOpen Targets
0.26Weak
Tracheoesophageal fistulaOpen Targets
0.26Weak
anorectal malformationOpen Targets
0.16Weak
pancreatic carcinomaOpen Targets
0.12Weak
autism spectrum disorderOpen Targets
0.11Weak
atrial fibrillationOpen Targets
0.08Suggestive
attention deficit hyperactivity disorderOpen Targets
0.06Suggestive
non-small cell lung carcinomaOpen Targets
0.05Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
posterior cortical atrophyOpen Targets
0.05Suggestive
schizophrenia 15Open Targets
0.04Suggestive
Phelan-McDermid syndromeOpen Targets
0.04Suggestive
Potocki-Lupski syndromeOpen Targets
0.04Suggestive
X-linked dominant intellectual disability - epilepsy syndromeOpen Targets
0.03Suggestive
X-linked non-syndromic intellectual disabilityOpen Targets
0.03Suggestive
ulcerative colitisOpen Targets
0.02Suggestive
cervical squamous cell carcinomaOpen Targets
0.02Suggestive
infantile spasmsOpen Targets
0.02Suggestive
autismOpen Targets
0.02Suggestive
Pathogenic Variants1
NM_198317.3(KLHL17):c.1682C>A (p.Ala561Glu)Likely pathogenic
Esophageal atresia/tracheoesophageal fistula
β˜†β˜†β˜†β˜†2019β†’ Residue 561
View on ClinVar β†—
Related Genes
KLHL1Shared pathway67%KBTBD13Shared pathway50%LRRC75AShared pathway50%KLHL30Shared pathway50%SMTNL2Shared pathway50%KLHL38Shared pathway50%
Tissue Expression6 tissues
Liver
100%
Lung
85%
Bone Marrow
64%
Heart
21%
Ovary
18%
Brain
16%
Gene Interaction Network
Click a node to explore
KLHL17KLHL1KBTBD13LRRC75AKLHL30SMTNL2KLHL38
PROTEIN STRUCTURE
Preparing viewer…
PDB6HRL Β· 2.60 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.28LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.04 [0.85–1.28]
RankingsWhere KLHL17 stands among ~20K protein-coding genes
  • #15,033of 20,598
    Most Researched17
  • #5,412of 5,498
    Most Pathogenic Variants1
  • #13,500of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedKLHL17
Sources retrieved8 papers
Response timeβ€”
πŸ“„ Sources
8β–Ό
1
Allelic effects on KLHL17 expression underlie a pancreatic cancer genome-wide association signal at chr1p36.33.
PMID: 40307206
Nat Commun Β· 2025
1.00
2
KLHL17/Actinfilin, a brain-specific gene associated with infantile spasms and autism, regulates dendritic spine enlargement.
PMID: 33256713
J Biomed Sci Β· 2020
0.88
3
Upregulation of KLHL17 promotes the proliferation and migration of non-small cell lung cancer by activating the Ras/MAPK signaling pathway.
PMID: 35978057
Lab Invest Β· 2022
0.75
4
Tumor-antigens and immune landscapes identification for prostate adenocarcinoma mRNA vaccine.
PMID: 34872584
Mol Cancer Β· 2021
0.63
5
Deconvolution of DNA methylation identifies differentially methylated gene regions on 1p36 across breast cancer subtypes.
PMID: 28912426
Sci Rep Β· 2017
0.50