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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KLHL1
kelch like family member 1
Chromosome 13 · 13q21.33
NCBI Gene: 57626Ensembl: ENSG00000150361.12HGNC: HGNC:6352UniProt: B7Z3I8
34PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmprotein bindingubiquitin-like ligase-substrate adaptor activitydendrite developmentperitonsillar abscessdisorder of pharynxlymphatic system diseasetonsillitis
✦AI Summary

KLHL1 (Kelch-like family member 1) is a brain-specific, neuronal actin-binding protein that functions as a modulator of neuronal excitability through regulation of voltage-gated calcium channels 1. The protein localizes to the soma and dendritic arbors, where it organizes the actin cytoskeleton and participates in neurite outgrowth 2. KLHL1 interacts with P/Q-type (Cav2.1) and T-type (Cav3.2) calcium channel subunits, increasing current density and calcium influx through mechanisms involving both channel number upregulation and alterations in channel kinetics 12. These modulatory effects require the actin-binding kelch domain, highlighting the functional importance of actin interactions 2. In cerebellar Purkinje neurons, KLHL1 is essential for dendritic development; targeted deletion causes dendritic atrophy, abnormal gait, and progressive motor coordination loss 3. KLHL1 also exhibits presynaptic functions, influencing synapsin I levels and synapse number 4. Disease relevance includes spinocerebellar ataxia type 8 (SCA8), where CTG expansions in the overlapping antisense RNA (KLHL1AS) likely suppress KLHL1 expression 5. Additionally, KLHL1 downregulation correlates with dopaminergic neuron dysfunction in Parkinson's disease 6, and genetic variants in KLHL1 are associated with susceptibility to trigger finger 7.

Sources cited
1
KLHL1 is a brain-specific neuronal actin-binding protein that modulates P/Q-type calcium channel current density and activation
PMID: 17289272
2
KLHL1 localizes to soma and dendrites, increases T-type calcium channel number through actin-binding mechanisms, and participates in neurite outgrowth
PMID: 20147652
3
Endogenous KLHL1 downregulation decreases both high and low voltage-activated calcium currents and reduces synaptic parameters in hippocampal neurons
PMID: 24703904
4
KLHL1 deletion in Purkinje neurons causes dendritic deficits, abnormal gait, and progressive motor coordination loss
PMID: 17005861
5
SCA8 CTG expansion in antisense KLHL1AS transcript correlates with downregulation of KLHL1 expression
PMID: 18708037
6
KLHL1 is downregulated in Parkinson's disease and is critical for dopaminergic neuron development and differentiation
PMID: 36820885
7
KLHL1 genetic variants on chromosome 13 are significantly associated with trigger finger risk
PMID: 32740585
Disease Associationsⓘ20
peritonsillar abscessOpen Targets
0.42Moderate
disorder of pharynxOpen Targets
0.31Weak
lymphatic system diseaseOpen Targets
0.31Weak
tonsillitisOpen Targets
0.31Weak
upper respiratory tract disorderOpen Targets
0.29Weak
ulcerative colitisOpen Targets
0.29Weak
amblyopiaOpen Targets
0.29Weak
stenosing tenosynovitisOpen Targets
0.29Weak
ovarian dysfunctionOpen Targets
0.29Weak
intestinal impactionOpen Targets
0.28Weak
COVID-19Open Targets
0.28Weak
placenta praeviaOpen Targets
0.28Weak
severe acute respiratory syndromeOpen Targets
0.27Weak
vision disorderOpen Targets
0.27Weak
vascular diseaseOpen Targets
0.26Weak
hemangiomaOpen Targets
0.24Weak
lymphangiomaOpen Targets
0.24Weak
myeloproliferative disorderOpen Targets
0.24Weak
complicationOpen Targets
0.19Weak
Herpes ZosterOpen Targets
0.19Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SOCS6Protein interaction76%MEA1Protein interaction76%KLHL17Shared pathway67%MKLN1Shared pathway33%KBTBD13Shared pathway33%LRRC75AShared pathway33%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
11%
Ovary
0%
Heart
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
KLHL1SOCS6MEA1KLHL17MKLN1KBTBD13LRRC75A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8TBJ7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.75LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.57 [0.44–0.75]
RankingsWhere KLHL1 stands among ~20K protein-coding genes
  • #11,177of 20,598
    Most Researched34
  • #5,953of 17,882
    Most Constrained (LOEUF)0.75
Genes detectedKLHL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The Kelch-like protein 1 modulates P/Q-type calcium current density.
PMID: 17289272
Neuroscience · 2007
1.00
2
T-type current modulation by the actin-binding protein Kelch-like 1.
PMID: 20147652
Am J Physiol Cell Physiol · 2010
0.90
3
Down-regulation of endogenous KLHL1 decreases voltage-gated calcium current density.
PMID: 24703904
Cell Calcium · 2014
0.80
4
The KLHL1-antisense transcript ( KLHL1AS) is evolutionarily conserved.
PMID: 11919683
Mamm Genome · 2002
0.70
5
SCA8 mRNA expression suggests an antisense regulation of KLHL1 and correlates to SCA8 pathology.
PMID: 18708037
Brain Res · 2008
0.60