PKD1L3 Gene - Polycystin 1 Like 3
A gene encoding a member of the polycystin protein family, involved in sensory perception and ciliary function.
Gene Information Card
| Symbol | PKD1L3 |
|---|---|
| Full Name | Polycystin 1 Like 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.3 |
| NCBI Gene ID | 342372 ncbi.nlm.nih.gov/gene/342372 |
| Ensembl ID | ENSG00000183570 |
| UniProt ID | Q7Z4L0 |
| OMIM ID | 610131 |
| HGNC ID | 21716 |
| Aliases | PC1L3, PKD1L3a, PKD1L3b |
Description
PKD1L3 (Polycystin 1 Like 3) is a protein-coding gene located on chromosome 16q22.3. It encodes a member of the polycystin protein family, characterized by multiple transmembrane domains and a large extracellular region. The protein is involved in ciliary function and sensory perception, particularly in taste and mechanosensation. PKD1L3 is expressed in various tissues, including the kidney, testis, and brain, and is associated with autosomal dominant polycystic kidney disease (ADPKD)-like phenotypes in some studies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Polycystic Kidney Disease | Potential role in ciliary signaling; mutations may disrupt renal tubule development | Limited evidence from case reports and functional studies (PMID: 16917815) |
| Spermatogenic Failure | Expression in testis suggests involvement in sperm flagella function | Inferred from expression data (UniProt) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Kidney | 3.8 | Low |
| Brain | 2.1 | Low |
| Lung | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.8 | Low expression |
| HeLa | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature truncation, likely loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Premature truncation, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein; likely loss of ciliary function.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • plasma membrane (GO:0005886) |
| • motile cilium (GO:0031514) | • response to stimulus (GO:0050896) |
Pathways
• Ciliary signaling pathway (Reactome: R-HSA-5620924)
Protein Summary
The PKD1L3 protein is a multi-pass membrane protein with a large extracellular N-terminal domain containing multiple immunoglobulin-like and fibronectin type III domains. It localizes to cilia and is thought to function as a receptor or channel component involved in mechanosensation and chemosensation. The protein is predicted to form heteromeric complexes with other polycystins (e.g., PKD2L1) to mediate calcium signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PKD1L3 Knockout HEK293 Cell Line | EDJ-KQ12136 | Human | 342372 | Details Get a Quote |
| PKD1L3 Knockout HeLa Cell Line | EDJ-KQ59725 | Human | 342372 | Details Get a Quote |
| PKD1L3 Knockout A-549 Cell Line | EDJ-KQ68197 | Human | 342372 | Details Get a Quote |
| PKD1L3 Knockout HCT 116 Cell Line | EDJ-KQ76571 | Human | 342372 | Details Get a Quote |
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