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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PKD1L3
polycystin 1 like 3, transient receptor potential channel interacting
Chromosome 16 · 16q22.2
NCBI Gene: 342372Ensembl: ENSG00000277481.2HGNC: HGNC:21716UniProt: Q7Z443
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
calcium ion transmembrane transportmonoatomic cation transmembrane transportprotein bindingplasma membraneintelligenceskin sensitivity to sunrisk-taking behaviourAbnormality of skin pigmentation
✦AI Summary

PKD1L3 is a pore-forming subunit of heterotetrameric, non-selective cation channels permeable to Ca²⁺, Na⁺, K⁺, and Mg²⁺ 12. The channel forms a 1:3 stoichiometry with TRPP3, activated by external low pH and Ca²⁺, opening only when extracellular pH rises after acid stimulus removal 12. PKD1L3 interacts with PKD2L1 through transmembrane domains to form candidate sour taste receptors localized to taste pores in circumvallate and foliate papillae 34. This interaction is essential for proper channel trafficking to the cell surface 4. A PKD1L3 splice variant identified in taste buds lacks GPS cleavage sites critical for membrane trafficking 5. Functionally, PKD1L3 may contribute to sour taste perception, though its in vivo role remains unclear and may be indirect 6. Beyond gustatory function, recent genome-wide association studies identified a common PKD1L3 variant significantly associated with IgA nephropathy susceptibility (odds ratio 1.16, P=1.43×10⁻¹¹) and lower haptoglobin protein levels 7, revealing unexpected renal disease relevance. Evolutionary analysis suggests rodents may not be optimal models for PKD1L3 functional studies 8.

Sources cited
1
PKD1L3 forms a cation channel activated by external low pH and Ca²⁺, opening when pH rises after acid stimulus removal
PMID: 19464260
2
PKD1L3 is a pore-forming subunit of heteromeric acid-sensing complexes with TRPP3 in 1:3 stoichiometry, permeable to Ca²⁺, Na⁺, K⁺, and Mg²⁺
PMID: 23212381
3
PKD1L3 and PKD2L1 coexpress in taste cells and form candidate sour taste receptors activated by acids
PMID: 16891422
4
PKD1L3 and PKD2L1 interact through transmembrane domains, essential for PKD2L1 trafficking to taste pores
PMID: 20538909
5
PKD1L3 may act as a sour taste receptor, but its contribution to sour taste perception in vivo is unclear and may be indirect
PMID: 19812697
6
A PKD1L3 splice variant in taste buds lacks GPS cleavage sites critical for membrane trafficking
PMID: 30928102
7
A common PKD1L3 variant is significantly associated with IgA nephropathy susceptibility and lower haptoglobin levels
PMID: 37787447
8
PKD1L3 evolves under purifying selection with positive selection at some sites; rodents may not be appropriate models for PKD1L3 functional research
PMID: 22011139
Disease Associationsⓘ20
intelligenceOpen Targets
0.25Weak
skin sensitivity to sunOpen Targets
0.22Weak
risk-taking behaviourOpen Targets
0.22Weak
Abnormality of skin pigmentationOpen Targets
0.22Weak
osteoarthritis, kneeOpen Targets
0.21Weak
neurodegenerative diseaseOpen Targets
0.20Weak
IGA glomerulonephritisOpen Targets
0.18Weak
type 2 diabetes mellitusOpen Targets
0.17Weak
HypercholesterolemiaOpen Targets
0.16Weak
ArthralgiaOpen Targets
0.14Weak
abscessOpen Targets
0.13Weak
cellulitisOpen Targets
0.13Weak
essential tremorOpen Targets
0.11Weak
Abnormality of the skeletal systemOpen Targets
0.11Weak
metabolic diseaseOpen Targets
0.10Weak
attention deficit hyperactivity disorderOpen Targets
0.09Suggestive
major depressive disorderOpen Targets
0.08Suggestive
autism spectrum disorderOpen Targets
0.08Suggestive
gallbladder diseaseOpen Targets
0.08Suggestive
Ischemic strokeOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TRPM5Protein interaction94%PKD2Protein interaction73%PRKD1Protein interaction73%PKD1L2Protein interaction71%PKD2L1Protein interaction68%PKD2L2Protein interaction60%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
17%
Brain
13%
Lung
10%
Ovary
8%
Heart
6%
Gene Interaction Network
Click a node to explore
PKD1L3TRPM5PKD2PRKD1PKD1L2PKD2L1PKD2L2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q7Z443
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.36LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.22 [1.08–1.36]
RankingsWhere PKD1L3 stands among ~20K protein-coding genes
  • #15,093of 20,598
    Most Researched17
  • #14,243of 17,882
    Most Constrained (LOEUF)1.36
Genes detectedPKD1L3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genome-Wide Association Analysis of Protein-Coding Variants in IgA Nephropathy.
PMID: 37787447
J Am Soc Nephrol · 2023
1.00
2
The response of PKD1L3/PKD2L1 to acid stimuli is inhibited by capsaicin and its pungent analogs.
PMID: 22420714
FEBS J · 2012
0.90
3
Molecular evolution of candidate sour taste receptor gene PKD1L3 in mammals.
PMID: 22011139
Genome · 2011
0.80
4
Transient receptor potential family members PKD1L3 and PKD2L1 form a candidate sour taste receptor.
PMID: 16891422
Proc Natl Acad Sci U S A · 2006
0.70
5
Interaction between PKD1L3 and PKD2L1 through their transmembrane domains is required for localization of PKD2L1 at taste pores in taste cells of circumvallate and foliate papillae.
PMID: 20538909
FASEB J · 2010
0.60